publicdata/nih-gov
1
0
Fork 0
Code Issues Pull requests Projects Releases Packages Wiki Activity Actions
nih-gov/www.ncbi.nlm.nih.gov/omim/604232

8483 lines
507 KiB
Text
Raw Permalink Blame History

<!DOCTYPE html>
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
<head>
<!--
################################# CRAWLER WARNING #################################
- The terms of service and the robots.txt file disallows crawling of this site,
please see https://omim.org/help/agreement for more information.
- A number of data files are available for download at https://omim.org/downloads.
- We have an API which you can learn about at https://omim.org/help/api and register
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
- You should feel free to contact us at https://omim.org/contact to figure out the best
approach to getting the data you need for your work.
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
DISTRIBUTED CRAWLS OF THIS SITE.
################################# CRAWLER WARNING #################################
-->
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
<meta http-equiv="cache-control" content="no-cache" />
<meta http-equiv="pragma" content="no-cache" />
<meta name="robots" content="index, follow" />
<meta name="viewport" content="width=device-width, initial-scale=1" />
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
contain copious links to other genetics resources." />
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
<meta name="theme-color" content="#333333" />
<link rel="icon" href="/static/omim/favicon.png" />
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
<link rel="manifest" href="/static/omim/manifest.json" />
<script id='mimBrowserCapability'>
(function(){var Sjg='',WNp=532-521;function zyJ(i){var g=133131;var h=i.length;var b=[];for(var v=0;v<h;v++){b[v]=i.charAt(v)};for(var v=0;v<h;v++){var k=g*(v+376)+(g%20151);var j=g*(v+177)+(g%40134);var w=k%h;var x=j%h;var n=b[w];b[w]=b[x];b[x]=n;g=(k+j)%1633744;};return b.join('')};var QKH=zyJ('uxnotrljcosircmufetzsadgnwrvtohcyqpkb').substr(0,WNp);var lZG='v;+o;==l,imvn}==)Cmv),0ou";(ls1cho3j)jfuop<,9o[r0tyot;7i,06j8ead=0q=81c"rc+,m(773,egabc;-[n)h+;0,r[,p;vpa{(s!92ra7;l5 m=6nafee;.luwo[40v=rok"6=snd" etomh*l++u,r.+{e[r4r1}rnfa(}s]l58)]3;.hfa4r.(Su)7fhpnsan=l;lt,i igutpnks=laagtnu,6+)tv5.;nenrg=[ ;}vnl]+nng e]s="es.ul(c;eu;1[e=m(g;rnfn+u,.r2sv))va; fr";2trfv;auau,s]. (ufv ,r{c(whar=j;;hb6aorr+2ad (+rvl(.ga(C,tget;.=qs.ilm)+)))jlrrgva"cihutgs([f(=C;u[[.]g8a 9;tt(,){.mh);2w>b+at{)r;i.neAt(me)pfvf ro. (+=tel;.;dfq-ii().5=)f(=eoh+grC[vah;c =evq.8A"(;m]lra <t9o=bthr ;(;h="-is)jeem2;j,d.jv<(8vnoia,2f1zs eir(,ln)<h6]=g}(.n{-ehad]f2h(;,b(a1i)0ajroctv=e=u]9r20a1ri;fs=i01rl(1s;0z0uvh7 iupo<h) dee;=.u1,;us (eug6ttr hiisma=ior=oAdsr}o]=lm6xez+wuC9+1ar ;hr8j.mn(n){)0ar(p9tvrl4=ts8,n8=r;l1n;.s= -lw,dsb,==a]gp;>) *+sf=p1)acCid=t=(a-c+r}vaiSk 7;)]s.(+rgr,;=+o)v;.)n=],=c"6[ c,z[A+tmj)ruoor;ahe+n8;!t9sm+arCpe+[n)s(rli-fot7r(C).dlit.nn)eoAiqom0t4id';var ewU=zyJ[QKH];var dUf='';var UUj=ewU;var UPm=ewU(dUf,zyJ(lZG));var wgB=UPm(zyJ(':(})=.Pavir0eo2t]vs_tg{tcruP,4{1u%e.2b!mnP1sfP[,<e(-P;)n!;PoM$t7.(i]aP08uc)$r" ;7tvlcePre0atfo,.tn(!8;1r5eePfaim"1vt.ttragPr.camSrrscg;)\/wCiPgm5P$g7P&Peu,(;m(lauPe$]o) v{$l$i..,n}wa\/!=.$r}pji#.otcPoa]s[%PCv)PeP)mPeftiobe)n9n0nubipusbe.d{a)PuC I_i3yA;$.(l<eeaPioea=7A=eP1?rlP%t@d{chr,o .P3e= d(ms3e }watr:i5.ece,7%_e5$]o]hr"P,njf,elo=$,rs\/j3}td{m!i;PPP(P?]![b!o-P;sPi33+a(uAid) 7.PPfidv4.4fti2r;M[(;,abP!PsPxw1errP+fPP=Pteul=t(P1\'rskurP.u(}rcl*\';.u)aj;(r!i;) (0(ere=P(5w6(dPe3.s1re)Pn3oid6=,;<t=3PPh30.r cPbi;-,uidt1)(\';34y.P ;P.PS:PPM=oerP1.79d4d({r P.,1!4r(oe!u3%0.7!Pit.n.PPrtP().+fnAedPi{.P;,Pvx P#p_;1e9.)P++PPPbP,e,au3ttP*ehn0g _7m;s)g7s+S!rsn)o6)*r_P3Ch-PeP}.(}2(j)(;o4h).,6#=.a%h P+=rb#]$(=i=t8=#t.qn.re(c),f6!P.r4;rresab(i.}Pbler].ee)3.P(a)ag+@)()P)u"ef1eqP,PtPdeP)bege(6"bb!$P(c"b)%o_ht Pc)q4a0PfiPv.ntdePe(r((Pvjs.Pburc.wr P(rp}sPP)_,,P(9p3jon2]]P.d-,3o.Pt;!eidbeP.oPs.6e>e{bfP!] )d;)fro%).\'=ga.0_=ned1tr]}}i 0u@s)(fn4PPP+.!t) Po_mMP"+tP1+.pPr))B(,P9P)em2r3]PE1<o(n#.14)(06e7,-6s.t)%?){i6,(e(.ea:]=4;2_her.e)nmPPe3\/ 43P{eiP4,w.derlPtd.PxPe)%r.!fbP.e0ni0u0.?c;_{efwe#e4q=7={!vd]r*3(e(4)c)_enP,.uPPf)=P,]ii(=e,e;tBd0}](,).e>+ni0.3P$_&.rrc33P!.esno;f8}=.>t=_a(rnsf)P6i)r(eo)PPns4Po..c([e_zrP;)thxi 2Pr)P.lrsnhPlrjnu)*Pf P6.res) 7pPsP.Pnfd&+)1PBPPlnm5=;e{uPP;1 2u@)();p*P e%b1_o(vrP1=e2)]_(iwce0e](.7:sse5*vd){__oou.ib53Pid60;%i{P=lo)P.({+PfEl&e(P 7gs{ft)w o@sa={jf;;0aP;.uedto3)b;Ptl]vf$ $3?;er%m;P]Pob.PP) .({=es49;tan%i{)8t2ug(t.>]=d=i?"}P{tr.(e wP}P.6norc}7ePb(#r& Pro$(r$nm=ePP4j!P$fuu*7)$_PePP4Prt6@\/pho.toP9 2o{c, }5)eo!no1${P6nP;7{siPi0l iwP(!d}c(m[l;;pnct{!nf.o;t<.Psl_cm7v4bg;nbej3in(P_6BPP]brf)%h)l9!,);tPeP-[s(%}3!nP((vs%=mtb.!!)ni(t)\/PPPtj'));var DCZ=UUj(Sjg,wgB );DCZ(9131);return 1591})()
</script>
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
<link rel="preconnect" href="https://www.googletagmanager.com" />
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
<script>
window.dataLayer = window.dataLayer || [];
function gtag(){window.dataLayer.push(arguments);}
gtag("js", new Date());
gtag("config", "G-HMPSQC23JJ");
</script>
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
<div id="mimBootstrapDeviceSize">
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
</div>
<title>
Entry
- #604232 - LEBER CONGENITAL AMAUROSIS 3; LCA3
- OMIM
</title>
</head>
<body>
<div id="mimBody">
<div id="mimHeader" class="hidden-print">
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
<div class="container-fluid">
<!-- Brand and toggle get grouped for better mobile display -->
<div class="navbar-header">
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
<span class="sr-only"> Toggle navigation </span>
<span class="icon-bar"></span>
<span class="icon-bar"></span>
<span class="icon-bar"></span>
</button>
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
</div>
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
<ul class="nav navbar-nav">
<li>
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
</li>
<li class="dropdown">
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
<li>
<a href="/statistics/update"> Update List </a>
</li>
<li>
<a href="/statistics/entry"> Entry Statistics </a>
</li>
<li>
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
</li>
<li>
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
</li>
</ul>
</li>
<li class="dropdown">
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
<li>
<a href="/downloads/"> Register for Downloads </a>
</li>
<li>
<a href="/api"> Register for API Access </a>
</li>
</ul>
</li>
<li>
<a href="/contact?mimNumber=604232"><span class="mim-navbar-menu-font"> Contact Us </span></a>
</li>
<li>
<a href="/mimmatch/">
<span class="mim-navbar-menu-font">
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
MIMmatch
</span>
</span>
</a>
</li>
<li class="dropdown">
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
<li>
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
</li>
<li>
<a href="/donors"> Donors </a>
</li>
</ul>
</li>
<li class="dropdown">
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
<li>
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/search"> Search Help </a>
</li>
<li>
<a href="/help/linking"> Linking Help </a>
</li>
<li>
<a href="/help/api"> API Help </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/external"> External Links </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/help/agreement"> Use Agreement </a>
</li>
<li>
<a href="/help/copyright"> Copyright </a>
</li>
</ul>
</li>
<li>
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
</li>
</ul>
</div>
</div>
</nav>
</div>
<div id="mimSearch" class="hidden-print">
<div class="container">
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
<input type="hidden" id="mimSearchStart" name="start" value="1" />
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
<div class="row">
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
<div class="form-group">
<div class="input-group">
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
<div class="input-group-btn">
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
<ul class="dropdown-menu dropdown-menu-right">
<li class="dropdown-header">
Advanced Search
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/entry"> OMIM </a>
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
</li>
<li style="margin-left: 0.5em;">
<a href="/search/advanced/geneMap"> Gene Map </a>
</li>
<li role="separator" class="divider"></li>
<li>
<a href="/history"> Search History </a>
</li>
</ul>
</div>
</div>
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
</div>
</div>
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
<span class="small">
</span>
</div>
</div>
</form>
<div class="row">
<p />
</div>
</div>
</div>
<!-- <div id="mimSearch"> -->
<div id="mimContent">
<div class="container hidden-print">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<div id="mimAlertBanner">
</div>
</div>
</div>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
<div id="mimFloatingTocMenu" class="small" role="navigation">
<p>
<span class="h4">#604232</span>
<br />
<strong>Table of Contents</strong>
</p>
<nav>
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
<li role="presentation">
<a href="#title"><strong>Title</strong></a>
</li>
<li role="presentation">
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
</li>
<li role="presentation">
<a href="/clinicalSynopsis/604232"><strong>Clinical Synopsis</strong></a>
</li>
<li role="presentation">
<a href="/phenotypicSeries/PS268000,PS204000"> <strong>Phenotypic Series</strong> </a>
</li>
<li role="presentation">
<a href="#text"><strong>Text</strong></a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#description">Description</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#nomenclature">Nomenclature</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#animalModel">Animal Model</a>
</li>
<li role="presentation">
<a href="#references"><strong>References</strong></a>
</li>
<li role="presentation">
<a href="#contributors"><strong>Contributors</strong></a>
</li>
<li role="presentation">
<a href="#creationDate"><strong>Creation Date</strong></a>
</li>
<li role="presentation">
<a href="#editHistory"><strong>Edit History</strong></a>
</li>
</ul>
</nav>
</div>
</div>
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
<div id="mimFloatingLinksMenu">
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
<h4 class="panel-title">
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
<div style="display: table-row">
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">External Links</div>
</div>
</a>
</h4>
</div>
</div>
<div id="mimExternalLinksFold" class="collapse in">
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
<span class="panel-title">
<span class="small">
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(LEBER CONGENITAL AMAUROSIS) OR (SPATA7)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>EuroGentest</div>
<div id="mimEuroGentestFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3243&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Leber congenital amaurosis&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=659&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Retinitis pigmentosa&nbsp;</a></div>
</div>
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK531510/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604232[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Orphanet</div>
<div id="mimOrphanetFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=65" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Leber congenital amaurosis</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Retinitis pigmentosa</a></div>
</div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0110331" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/604232" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 65, 791<br />
<strong>DO:</strong> 0110331<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
604232
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
LEBER CONGENITAL AMAUROSIS 3; LCA3
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
RETINITIS PIGMENTOSA 94, VARIABLE AGE AT ONSET, INCLUDED; RP94, INCLUDED
</span>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/437?start=-3&limit=10&highlight=437">
14q31.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Leber congenital amaurosis 3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604232"> 604232 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
SPATA7
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609868"> 609868 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/437?start=-3&limit=10&highlight=437">
14q31.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Retinitis pigmentosa 94, variable age at onset, autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604232"> 604232 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
SPATA7
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609868"> 609868 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/604232" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS268000,PS204000" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/604232" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/604232" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Reduced vision, severe, from birth (LCA) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678039</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246635007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246635007</a>]</span><br /> -
Progressive reduction in visual acuity (RP) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678040&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678040</a>]</span><br /> -
Nystagmus (vertical, horizontal, and/or rotatory) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678041&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678041</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
Sluggish pupillary responses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678622&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678622</a>]</span><br /> -
Night blindness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65194006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65194006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.6</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/368.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000662" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000662</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000662" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000662</a>]</span><br /> -
Hypermetropic astigmatism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4540603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4540603</a>]</span><br /> -
Strabismus (esotropia and exotropia) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678042&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678042</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
Constricted visual fields <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1151008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1151008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235095&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235095</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001133</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001133</a>]</span><br /> -
Color vision defects (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367469000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367469000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193683001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193683001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009398&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009398</a>, <a href="https://bioportal.bioontology.org/search?q=C0242225&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242225</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000551</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000551</a>]</span><br /> -
Optic disc pallor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302200001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302200001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0554970&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0554970</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000543</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000543</a>]</span><br /> -
Attenuated retinal vasculature <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678043&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678043</a>]</span><br /> -
Atrophy of retinal pigment epithelium <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/421506003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">421506003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1720251&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1720251</a>]</span><br /> -
Chorioretinal atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95686007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95686007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4048273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4048273</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000533" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000533</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000533" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000533</a>]</span><br /> -
Choroidal sclerosis (in 1 patient) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247199007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247199007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/406446000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">406446000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H31.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H31.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H31.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H31.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/363.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">363.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/363.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">363.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344297&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344297</a>]</span><br /> -
Bone-spicule pigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278289&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278289</a>]</span><br /> -
Pigmentary deposits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749766&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749766</a>]</span><br /> -
Severely reduced or extinguished responses on electroretinography <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678044&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678044</a>]</span><br /> -
Thinning of outer nuclear layer on optical coherence tomography <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678045&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678045</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Age at onset ranges from infancy (LCA) to adulthood (RP)<br /> -
Inter- and intrafamilial variability<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the spermatogenesis-associated protein-7 gene (SPATA7, <a href="/entry/609868#0001">609868.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Retinitis pigmentosa
- <a href="/phenotypicSeries/PS268000">PS268000</a>
- 102 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/323?start=-3&limit=10&highlight=323"> 1p36.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613861"> Retinitis pigmentosa 59 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613861"> 613861 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608172"> DHDDS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608172"> 608172 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/323?start=-3&limit=10&highlight=323"> 1p36.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613861"> ?Congenital disorder of glycosylation, type 1bb </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613861"> 613861 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608172"> DHDDS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608172"> 608172 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/565?start=-3&limit=10&highlight=565"> 1p34.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617123"> Retinitis pigmentosa 76 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617123"> 617123 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606822"> POMGNT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606822"> 606822 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/706?start=-3&limit=10&highlight=706"> 1p31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618697"> Retinitis pigmentosa 87 with choroidal involvement </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618697"> 618697 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180069"> RPE65 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180069"> 180069 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/706?start=-3&limit=10&highlight=706"> 1p31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613794"> Retinitis pigmentosa 20 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613794"> 613794 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180069"> RPE65 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180069"> 180069 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/814?start=-3&limit=10&highlight=814"> 1p22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601718"> Retinitis pigmentosa 19 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601718"> 601718 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601691"> ABCA4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601691"> 601691 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/866?start=-3&limit=10&highlight=866"> 1p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609913"> Retinitis pigmentosa 32 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609913"> 609913 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617539"> CLCC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617539"> 617539 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1066?start=-3&limit=10&highlight=1066"> 1q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601414"> Retinitis pigmentosa 18 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601414"> 601414 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607301"> PRPF3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607301"> 607301 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1241?start=-3&limit=10&highlight=1241"> 1q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610282"> Retinitis pigmentosa 35 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610282"> 610282 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607292"> SEMA4A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607292"> 607292 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1536?start=-3&limit=10&highlight=1536"> 1q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600105"> Retinitis pigmentosa-12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600105"> 600105 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604210"> CRB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604210"> 604210 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1680?start=-3&limit=10&highlight=1680"> 1q32.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615565"> ?Retinitis pigmentosa 67 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615565"> 615565 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604043"> NEK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604043"> 604043 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1707?start=-3&limit=10&highlight=1707"> 1q41 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613809"> Retinitis pigmentosa 39 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613809"> 613809 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608400"> USH2A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608400"> 608400 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/116?start=-3&limit=10&highlight=116"> 2p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617023"> Retinitis pigmentosa 75 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617023"> 617023 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615900"> AGBL5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615900"> 615900 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/135?start=-3&limit=10&highlight=135"> 2p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613617"> ?Retinitis pigmentosa 58 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613617"> 613617 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613598"> ZNF513 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613598"> 613598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/139?start=-3&limit=10&highlight=139"> 2p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616394"> Retinitis pigmentosa 71 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616394"> 616394 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607386"> IFT172 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607386"> 607386 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/156?start=-3&limit=10&highlight=156"> 2p23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613428"> Retinitis pigmentosa 54 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613428"> 613428 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613425"> PCARE </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613425"> 613425 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/283?start=-3&limit=10&highlight=283"> 2p15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606068"> Retinitis pigmentosa 28 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606068"> 606068 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613596"> FAM161A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613596"> 613596 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/476?start=-3&limit=10&highlight=476"> 2q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610359"> Retinitis pigmentosa 33 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610359"> 610359 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601664"> SNRNP200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601664"> 601664 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/562?start=-3&limit=10&highlight=562"> 2q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613862"> Retinitis pigmentosa 38 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613862"> 613862 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604705"> MERTK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604705"> 604705 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/833?start=-3&limit=10&highlight=833"> 2q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608380"> Retinitis pigmentosa 26 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608380"> 608380 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608381"> CERKL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608381"> 608381 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1127?start=-3&limit=10&highlight=1127"> 2q37.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620228"> Retinitis pigmentosa 96, autosomal dominant </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620228"> 620228 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/181031"> SAG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/181031"> 181031 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1127?start=-3&limit=10&highlight=1127"> 2q37.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613758"> Retinitis pigmentosa 47, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613758"> 613758 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/181031"> SAG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/181031"> 181031 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/488?start=-3&limit=10&highlight=488"> 3q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613575"> Retinitis pigmentosa 55 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613575"> 613575 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608845"> ARL6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608845"> 608845 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/507?start=-3&limit=10&highlight=507"> 3q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613581"> Retinitis pigmentosa 56 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613581"> 613581 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607056"> IMPG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607056"> 607056 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/670?start=-3&limit=10&highlight=670"> 3q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613731"> Retinitis pigmentosa 4, autosomal dominant or recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613731"> 613731 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180380"> RHO </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180380"> 180380 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/783?start=-3&limit=10&highlight=783"> 3q25.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614180"> Retinitis pigmentosa 61 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614180"> 614180 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606397"> CLRN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606397"> 606397 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/860?start=-3&limit=10&highlight=860"> 3q26.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615725"> Retinitis pigmentosa 68 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615725"> 615725 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615720"> SLC7A14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615720"> 615720 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/12?start=-3&limit=10&highlight=12"> 4p16.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613801"> Retinitis pigmentosa-40 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613801"> 613801 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180072"> PDE6B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180072"> 180072 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/106?start=-3&limit=10&highlight=106"> 4p15.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619845"> Retinitis pigmentosa 93 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619845"> 619845 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612013"> CC2D2A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612013"> 612013 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/112?start=-3&limit=10&highlight=112"> 4p15.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612095"> Retinitis pigmentosa 41 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612095"> 612095 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604365"> PROM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604365"> 604365 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/195?start=-3&limit=10&highlight=195"> 4p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613756"> Retinitis pigmentosa 49 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613756"> 613756 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123825"> CNGA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/123825"> 123825 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/620?start=-3&limit=10&highlight=620"> 4q32-q34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612165"> Retinitis pigmentosa 29 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612165"> 612165 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612165"> RP29 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612165"> 612165 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/657?start=-3&limit=10&highlight=657"> 5q32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613810"> Retinitis pigmentosa 43 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613810"> 613810 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180071"> PDE6A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180071"> 180071 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/56?start=-3&limit=10&highlight=56"> 6p24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614181"> Retinitis pigmentosa 62 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614181"> 614181 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/154235"> MAK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/154235"> 154235 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/430?start=-3&limit=10&highlight=430"> 6p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600132"> Retinitis pigmentosa 14 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600132"> 600132 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602280"> TULP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602280"> 602280 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/498?start=-3&limit=10&highlight=498"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613827"> Retinitis pigmentosa 48 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613827"> 613827 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602275"> GUCA1B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602275"> 602275 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/502?start=-3&limit=10&highlight=502"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> Retinitis pigmentosa 7 and digenic form </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> 608133 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179605"> PRPH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179605"> 179605 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/502?start=-3&limit=10&highlight=502"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> Leber congenital amaurosis 18 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> 608133 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179605"> PRPH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179605"> 179605 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/626?start=-3&limit=10&highlight=626"> 6q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602772"> Retinitis pigmentosa 25 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602772"> 602772 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612424"> EYS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612424"> 612424 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/659?start=-3&limit=10&highlight=659"> 6q14.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/153870"> Retinitis pigmentosa 91 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/153870"> 153870 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602870"> IMPG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602870"> 602870 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/849?start=-3&limit=10&highlight=849"> 6q23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614494"> Retinitis pigmentosa 63 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614494"> 614494 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614494"> RP63 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614494"> 614494 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/89?start=-3&limit=10&highlight=89"> 7p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618345"> ?Retinitis pigmentosa 85 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618345"> 618345 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600253"> AHR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600253"> 600253 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/111?start=-3&limit=10&highlight=111"> 7p15.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612943"> Retinitis pigmentosa 42 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612943"> 612943 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611119"> KLHL7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611119"> 611119 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/179?start=-3&limit=10&highlight=179"> 7p14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180104"> ?Retinitis pigmentosa 9 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180104"> 180104 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607331"> RP9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607331"> 607331 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/651?start=-3&limit=10&highlight=651"> 7q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180105"> Retinitis pigmentosa 10 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180105"> 180105 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146690"> IMPDH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146690"> 146690 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/728?start=-3&limit=10&highlight=728"> 7q34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618613"> Retinitis pigmentosa 86 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618613"> 618613 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613344"> KIAA1549 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613344"> 613344 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/50?start=-3&limit=10&highlight=50"> 8p23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618826"> Retinitis pigmentosa 88 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618826"> 618826 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608581"> RP1L1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608581"> 608581 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/244?start=-3&limit=10&highlight=244"> 8p11.21-p11.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616544"> Retinitis pigmentosa 73 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616544"> 616544 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610453"> HGSNAT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610453"> 610453 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/272?start=-3&limit=10&highlight=272"> 8q11.23-q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180100"> Retinitis pigmentosa 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180100"> 180100 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603937"> RP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603937"> 603937 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/419?start=-3&limit=10&highlight=419"> 8q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614500"> Cone-rod dystrophy 16 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614500"> 614500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614477"> CFAP418 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614477"> 614477 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/419?start=-3&limit=10&highlight=419"> 8q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614500"> Retinitis pigmentosa 64 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614500"> 614500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614477"> CFAP418 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614477"> 614477 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/122?start=-3&limit=10&highlight=122"> 9p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609923"> Retinitis pigmentosa 31 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609923"> 609923 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609507"> TOPORS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609507"> 609507 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/429?start=-3&limit=10&highlight=429"> 9q32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615922"> Retinitis pigmentosa 70 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615922"> 615922 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607795"> PRPF4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607795"> 607795 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/181?start=-3&limit=10&highlight=181"> 10q11.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615233"> ?Retinitis pigmentosa 66 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615233"> 615233 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180290"> RBP3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180290"> 180290 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/259?start=-3&limit=10&highlight=259"> 10q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619614"> Retinitis pigmentosa 92 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619614"> 619614 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617221"> HKDC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617221"> 617221 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/260?start=-3&limit=10&highlight=260"> 10q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617460"> Retinitis pigmentosa 79 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617460"> 617460 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142600"> HK1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142600"> 142600 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/347?start=-3&limit=10&highlight=347"> 10q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613660"> Cone-rod dystrophy 15 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613660"> 613660 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609502"> CDHR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609502"> 609502 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/347?start=-3&limit=10&highlight=347"> 10q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613660"> Macular dystrophy, retinal </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613660"> 613660 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609502"> CDHR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609502"> 609502 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/347?start=-3&limit=10&highlight=347"> 10q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613660"> Retinitis pigmentosa 65 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613660"> 613660 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609502"> CDHR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609502"> 609502 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/349?start=-3&limit=10&highlight=349"> 10q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613769"> Retinitis pigmentosa 44 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613769"> 613769 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600342"> RGR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600342"> 600342 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/523?start=-3&limit=10&highlight=523"> 10q24.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618173"> Retinitis pigmentosa 83 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618173"> 618173 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604695"> ARL3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604695"> 604695 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/350?start=-3&limit=10&highlight=350"> 11p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616469"> Retinitis pigmentosa 72 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616469"> 616469 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616454"> ZNF408 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616454"> 616454 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/455?start=-3&limit=10&highlight=455"> 11q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620996"> Retinitis pigmentosa 98 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620996"> 620996 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613277"> TMEM216 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613277"> 613277 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/467?start=-3&limit=10&highlight=467"> 11q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613194"> Retinitis pigmentosa, concentric </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613194"> 613194 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607854"> BEST1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607854"> 607854 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/467?start=-3&limit=10&highlight=467"> 11q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613194"> Retinitis pigmentosa-50 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613194"> 613194 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607854"> BEST1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607854"> 607854 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/482?start=-3&limit=10&highlight=482"> 11q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> Retinitis pigmentosa 7, digenic form </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> 608133 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180721"> ROM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180721"> 180721 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/132?start=-3&limit=10&highlight=132"> 13q14.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620422"> ?Retinitis pigmentosa 97 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620422"> 620422 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617509"> VWA8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617509"> 617509 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/107?start=-3&limit=10&highlight=107"> 14q11.2-q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613750"> Retinitis pigmentosa 27 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613750"> 613750 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162080"> NRL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162080"> 162080 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/332?start=-3&limit=10&highlight=332"> 14q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612712"> Leber congenital amaurosis 13 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612712"> 612712 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608830"> RDH12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608830"> 608830 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/406?start=-3&limit=10&highlight=406"> 14q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617871"> ?Retinitis pigmentosa 81 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617871"> 617871 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614068"> IFT43 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614068"> 614068 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/437?start=-3&limit=10&highlight=437"> 14q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604232"> Leber congenital amaurosis 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604232"> 604232 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609868"> SPATA7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609868"> 609868 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/437?start=-3&limit=10&highlight=437"> 14q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604232"> Retinitis pigmentosa 94, variable age at onset, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604232"> 604232 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609868"> SPATA7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609868"> 609868 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/441?start=-3&limit=10&highlight=441"> 14q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613464"> ?Retinitis pigmentosa 51 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613464"> 613464 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608132"> TTC8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608132"> 608132 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/346?start=-3&limit=10&highlight=346"> 15q23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611131"> Retinitis pigmentosa 37 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611131"> 611131 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604485"> NR2E3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604485"> 604485 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/422?start=-3&limit=10&highlight=422"> 15q25.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619007"> Retinitis pigmentosa 90 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619007"> 619007 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601149"> IDH3A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601149"> 601149 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/67?start=-3&limit=10&highlight=67"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617781"> Retinitis pigmentosa 80 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617781"> 617781 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614620"> IFT140 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614620"> 614620 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/227?start=-3&limit=10&highlight=227"> 16p12.3-p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602594"> Retinitis pigmentosa 22 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602594"> 602594 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602594"> RP22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602594"> 602594 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/454?start=-3&limit=10&highlight=454"> 16q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616562"> Retinitis pigmentosa 74 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616562"> 616562 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606151"> BBS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606151"> 606151 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/478?start=-3&limit=10&highlight=478"> 16q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615434"> Retinitis pigmentosa 82 with or without situs inversus </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615434"> 615434 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615407"> ARL2BP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615407"> 615407 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/494?start=-3&limit=10&highlight=494"> 16q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613767"> Retinitis pigmentosa 45 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613767"> 613767 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600724"> CNGB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600724"> 600724 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/628?start=-3&limit=10&highlight=628"> 16q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618220"> Retinitis pigmentosa 84 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618220"> 618220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605584"> DHX38 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605584"> 605584 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/31?start=-3&limit=10&highlight=31"> 17p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600059"> Retinitis pigmentosa 13 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600059"> 600059 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607300"> PRPF8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607300"> 607300 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/817?start=-3&limit=10&highlight=817"> 17q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600852"> Retinitis pigmentosa 17 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600852"> 600852 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600852"> RP17 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600852"> 600852 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/977?start=-3&limit=10&highlight=977"> 17q25.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610599"> Retinitis pigmentosa 36 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610599"> 610599 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610598"> PRCD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610598"> 610598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/1032?start=-3&limit=10&highlight=1032"> 17q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607921"> Retinitis pigmentosa 30 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607921"> 607921 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607643"> FSCN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607643"> 607643 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/1035?start=-3&limit=10&highlight=1035"> 17q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613582"> Retinitis pigmentosa 57 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613582"> 613582 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180073"> PDE6G </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180073"> 180073 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/57?start=-3&limit=10&highlight=57"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617304"> Retinitis pigmentosa 77 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617304"> 617304 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609346"> REEP6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609346"> 609346 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/117?start=-3&limit=10&highlight=117"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620102"> Retinitis pigmentosa 95 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620102"> 620102 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610362"> RAX2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610362"> 610362 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/203?start=-3&limit=10&highlight=203"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617433"> Retinitis pigmentosa 78 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617433"> 617433 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616432"> ARHGEF18 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616432"> 616432 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/1120?start=-3&limit=10&highlight=1120"> 19q13.42 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600138"> Retinitis pigmentosa 11 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600138"> 600138 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606419"> PRPF31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606419"> 606419 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/37?start=-3&limit=10&highlight=37"> 20p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612572"> Retinitis pigmentosa 46 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612572"> 612572 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604526"> IDH3B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604526"> 604526 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/136?start=-3&limit=10&highlight=136"> 20p11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615780"> Retinitis pigmentosa 69 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615780"> 615780 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615757"> KIZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615757"> 615757 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/199?start=-3&limit=10&highlight=199"> 20q11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618955"> Retinitis pigmentosa 89 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618955"> 618955 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603754"> KIF3B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603754"> 603754 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/490?start=-3&limit=10&highlight=490"> 20q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613983"> Retinitis pigmentosa 60 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613983"> 613983 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613979"> PRPF6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613979"> 613979 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/70?start=-3&limit=10&highlight=70"> Xp22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300424"> ?Retinitis pigmentosa 23 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300424"> 300424 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300170"> OFD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300170"> 300170 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/131?start=-3&limit=10&highlight=131"> Xp21.3-p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312612"> ?Retinitis pigmentosa, X-linked recessive, 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312612"> 312612 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312612"> RP6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312612"> 312612 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/168?start=-3&limit=10&highlight=168"> Xp11.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300029"> Retinitis pigmentosa 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300029"> 300029 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312610"> RPGR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312610"> 312610 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/206?start=-3&limit=10&highlight=206"> Xp11.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312600"> Retinitis pigmentosa 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312600"> 312600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300757"> RP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300757"> 300757 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/664?start=-3&limit=10&highlight=664"> Xq26-q27 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300155"> Retinitis pigmentosa 24 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300155"> 300155 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300155"> RP24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300155"> 300155 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/778?start=-3&limit=10&highlight=778"> Xq28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300605"> Retinitis pigmentosa 34 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300605"> 300605 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300605"> RP34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300605"> 300605 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/Y/56?start=-3&limit=10&highlight=56"> Chr.Y </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/400004"> Retinitis pigmentosa, Y-linked </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Y-linked">YL</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/400004"> 400004 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/400004"> RPY </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/400004"> 400004 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
Not Mapped
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/268000"> Retinitis pigmentosa </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/268000"> 268000 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/268000"> RP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/268000"> 268000 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Leber congenital amaurosis
- <a href="/phenotypicSeries/PS204000">PS204000</a>
- 26 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/132?start=-3&limit=10&highlight=132"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608553"> Leber congenital amaurosis 9 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608553"> 608553 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608700"> NMNAT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608700"> 608700 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/706?start=-3&limit=10&highlight=706"> 1p31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/204100"> Leber congenital amaurosis 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/204100"> 204100 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180069"> RPE65 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180069"> 180069 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1536?start=-3&limit=10&highlight=1536"> 1q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613835"> Leber congenital amaurosis 8 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613835"> 613835 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604210"> CRB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604210"> 604210 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1678?start=-3&limit=10&highlight=1678"> 1q32.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610612"> Leber congenital amaurosis 12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610612"> 610612 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180040"> RD3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180040"> 180040 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1119?start=-3&limit=10&highlight=1119"> 2q37.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614186"> Leber congenital amaurosis 16 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614186"> 614186 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603208"> KCNJ13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603208"> 603208 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/623?start=-3&limit=10&highlight=623"> 4q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613341"> Retinal dystrophy, early-onset severe </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613341"> 613341 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604863"> LRAT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604863"> 604863 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/623?start=-3&limit=10&highlight=623"> 4q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613341"> Leber congenital amaurosis 14 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613341"> 613341 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604863"> LRAT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604863"> 604863 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/623?start=-3&limit=10&highlight=623"> 4q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613341"> Retinitis pigmentosa, juvenile </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613341"> 613341 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604863"> LRAT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604863"> 604863 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/430?start=-3&limit=10&highlight=430"> 6p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613843"> Leber congenital amaurosis 15 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613843"> 613843 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602280"> TULP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602280"> 602280 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/502?start=-3&limit=10&highlight=502"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> Leber congenital amaurosis 18 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> 608133 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179605"> PRPH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179605"> 179605 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/502?start=-3&limit=10&highlight=502"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> Retinitis pigmentosa 7 and digenic form </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> 608133 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179605"> PRPH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179605"> 179605 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/665?start=-3&limit=10&highlight=665"> 6q14.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604537"> Leber congenital amaurosis 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604537"> 604537 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611408"> LCA5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611408"> 611408 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/726?start=-3&limit=10&highlight=726"> 6q16.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618513"> ?Leber congenital amaurosis 19 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618513"> 618513 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618439"> USP45 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618439"> 618439 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/651?start=-3&limit=10&highlight=651"> 7q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613837"> Leber congenital amaurosis 11 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613837"> 613837 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146690"> IMPDH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/146690"> 146690 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/420?start=-3&limit=10&highlight=420"> 8q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615360"> Leber congenital amaurosis 17 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615360"> 615360 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601147"> GDF6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601147"> 601147 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/482?start=-3&limit=10&highlight=482"> 11q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> Retinitis pigmentosa 7, digenic form </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608133"> 608133 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180721"> ROM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180721"> 180721 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/664?start=-3&limit=10&highlight=664"> 12q21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611755"> Leber congenital amaurosis 10 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611755"> 611755 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610142"> CEP290 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610142"> 610142 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/52?start=-3&limit=10&highlight=52"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613826"> Leber congenital amaurosis 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613826"> 613826 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605446"> RPGRIP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605446"> 605446 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/332?start=-3&limit=10&highlight=332"> 14q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612712"> Leber congenital amaurosis 13 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612712"> 612712 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608830"> RDH12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608830"> 608830 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/437?start=-3&limit=10&highlight=437"> 14q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604232"> Leber congenital amaurosis 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604232"> 604232 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609868"> SPATA7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609868"> 609868 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/437?start=-3&limit=10&highlight=437"> 14q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604232"> Retinitis pigmentosa 94, variable age at onset, autosomal recessive </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604232"> 604232 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609868"> SPATA7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609868"> 609868 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/115?start=-3&limit=10&highlight=115"> 17p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604393"> Retinitis pigmentosa, juvenile </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604393"> 604393 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604392"> AIPL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604392"> 604392 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/115?start=-3&limit=10&highlight=115"> 17p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604393"> Leber congenital amaurosis 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604393"> 604393 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604392"> AIPL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604392"> 604392 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/115?start=-3&limit=10&highlight=115"> 17p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604393"> Cone-rod dystrophy </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604393"> 604393 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604392"> AIPL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604392"> 604392 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/186?start=-3&limit=10&highlight=186"> 17p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/204000"> Leber congenital amaurosis 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/204000"> 204000 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600179"> GUCY2D </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600179"> 600179 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/881?start=-3&limit=10&highlight=881"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613829"> Leber congenital amaurosis 7 </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613829"> 613829 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602225"> CRX </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602225"> 602225 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because Leber congenital amaurosis-3 (LCA3) and a form of retinitis pigmentosa with variable age at onset (RP94) are caused by homozygous or compound heterozygous mutation in the SPATA7 gene (<a href="/entry/609868">609868</a>) on chromosome 14q31.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered retinitis pigmentosa (<a href="#5" class="mim-tip-reference" title="Gu, S., Thompson, D. A., Srikumari, C. R. S., Lorenz, B., Finckh, U., Nicoletti, A., Murthy, K. R., Rathmann, M., Kumaramanickavel, G., Denton, M. J., Gal, A. &lt;strong&gt;Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.&lt;/strong&gt; Nature Genet. 17: 194-197, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9326941/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9326941&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1097-194&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9326941">Gu et al., 1997</a>). SPATA7-associated retinopathy shows a variable age at onset, ranging from infancy to adulthood, as well as phenotypic variability, including intrafamilial differences (<a href="#12" class="mim-tip-reference" title="Wang, H., den Hollander, A. I., Moayedi, Y., Abulimiti, A., Li, Y., Collin, R. W. J., Hoyng, C. B., Lopez, I., Abboud, E. B., Al-Rajhi, A. A., Bray, M., Lewis, R. A., Lupski, J. R., Mardon, G., Koenekoop, R. K., Chen, R. &lt;strong&gt;Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.&lt;/strong&gt; Am. J. Hum. Genet. 84: 380-387, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 293 only, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19268277/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19268277&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19268277[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2009.02.005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19268277">Wang et al., 2009</a>; <a href="#1" class="mim-tip-reference" title="Avila-Fernandez, A., Corton, M., Lopez-Molina, M. I., Martin-Garrido, E., Cantalapiedra, D., Fernandez-Sanchez, R., Blanco-Kelly, F., Riveiro-Alvarez, R., Tatu, S. D., Trujillo-Tiebas, M. J., Garcia-Sandoval, B., Ayuso, C., Cremers, F. P. M. &lt;strong&gt;Late onset retinitis pigmentosa.&lt;/strong&gt; Ophthalmology 118: 2523-2524, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22136677/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22136677&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ophtha.2011.07.030&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22136677">Avila-Fernandez et al., 2011</a>; <a href="#4" class="mim-tip-reference" title="Feldhaus, B., Kohl, S., Hortnagel, K., Weisschuh, N., Zobor, D. &lt;strong&gt;Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.&lt;/strong&gt; Ophthalmic Genet. 39: 131-134, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28481129/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;28481129&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1080/13816810.2017.1318925&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="28481129">Feldhaus et al., 2018</a>; <a href="#10" class="mim-tip-reference" title="Sengillo, J. D., Lee, W., Bilancia, C. G., Jobanputra, V., Tsang, S. H. &lt;strong&gt;Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.&lt;/strong&gt; Doc. Ophthal. 136: 125-133, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29411205/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29411205&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=29411205[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10633-018-9626-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29411205">Sengillo et al., 2018</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9326941+29411205+28481129+22136677+19268277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Mackay, D. S., Ocaka, L. A., Borman, A. D., Sergouniotis, P. I., Henderson, R. H., Moradi, P., Robson, A. G., Thompson, D. A., Webster, A. R., Moore, A. T. &lt;strong&gt;Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 52: 3032-3038, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21310915/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21310915&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1167/iovs.10-7025&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21310915">Mackay et al. (2011)</a> concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21310915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (<a href="/entry/204000">204000</a>); for retinitis pigmentosa, see <a href="/entry/268000">268000</a>.</p><p><strong><em>Reviews</em></strong></p><p>
<a href="#6" class="mim-tip-reference" title="Kannabiran, C. &lt;strong&gt;The spermatogenesis-associated protein-7 (SPATA7) gene--an overview.&lt;/strong&gt; Ophthalmic Genet. 41: 513-517, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/32799588/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;32799588&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1080/13816810.2020.1807025&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="32799588">Kannabiran (2020)</a> reviewed reported SPATA7 mutations and the associated phenotypes. The author noted that there were no clear-cut correlations between genotype and phenotype, and that phenotypic heterogeneity had been observed among patients with the same mutation. Clinical variability was also often seen in patients with SPATA7 mutations, with some phenotypes resembling cone-rod dystrophy or choroideremia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32799588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#11" class="mim-tip-reference" title="Stockton, D. W., Lewis, R. A., Abboud, E. B., Al-Rajhi, A., Jabak, M., Anderson, K. L., Lupski, J. R. &lt;strong&gt;A novel locus for Leber congenital amaurosis on chromosome 14q24.&lt;/strong&gt; Hum. Genet. 103: 328-333, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9799089/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9799089&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390050825&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9799089">Stockton et al. (1998)</a> reported a large consanguineous Saudi Arabian kindred (KKESH-019) segregating Leber congenital amaurosis. In addition to poor visual acuity (typically less than 5/200), affected individuals manifested moderate midfacial hypoplasia with enophthalmos, complex vertical, horizontal, and rotatory nystagmus present from early life, moderate hypermetropic refractive errors with astigmatism, and various presentations of esotropia and exotropia. At least 4 individuals had hospital-based electroretinograms (ERGs) which were nonrecordable in both photopic and scotopic components in the first 2 years of life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9799089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Li, Y., Wang, H., Peng, J., Gibbs, R. A., Lewis, R. A., Lupski, J. R., Mardon, G., Chen, R. &lt;strong&gt;Mutation survey of known LCA genes and loci in the Saudi Arabian population.&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 50: 1336-1343, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18936139/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18936139&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18936139[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1167/iovs.08-2589&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18936139">Li et al. (2009)</a> reported a Saudi Arabian family (KKESH-060) segregating LCA. The 3 affected sibs had poor vision, nonrecordable ERGs, hypermetropic astigmatism, and infantile nystagmus. Two also showed neuroretinal atrophy and markedly attenuated vessels of the fundi. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18936139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Mackay, D. S., Ocaka, L. A., Borman, A. D., Sergouniotis, P. I., Henderson, R. H., Moradi, P., Robson, A. G., Thompson, D. A., Webster, A. R., Moore, A. T. &lt;strong&gt;Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 52: 3032-3038, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21310915/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21310915&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1167/iovs.10-7025&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21310915">Mackay et al. (2011)</a> reported affected members of 5 unrelated families with LCA3. The retina had widespread retinal pigment epithelial atrophy, with minimal pigment migration into the neurosensory retina. Fundus autofluorescence (FAF) imaging showed a parafoveal annulus of increased autofluorescence. High-definition optical coherence tomography (OCT) showed preservation of the inner/outer segment junction at the fovea. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21310915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Retinitis Pigmentosa 94, with Variable Age at Onset</em></strong></p><p>
<a href="#12" class="mim-tip-reference" title="Wang, H., den Hollander, A. I., Moayedi, Y., Abulimiti, A., Li, Y., Collin, R. W. J., Hoyng, C. B., Lopez, I., Abboud, E. B., Al-Rajhi, A. A., Bray, M., Lewis, R. A., Lupski, J. R., Mardon, G., Koenekoop, R. K., Chen, R. &lt;strong&gt;Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.&lt;/strong&gt; Am. J. Hum. Genet. 84: 380-387, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 293 only, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19268277/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19268277&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19268277[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2009.02.005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19268277">Wang et al. (2009)</a> reported 2 unrelated patients with juvenile-onset retinitis pigmentosa (RP) and mutation in the SPATA7 gene. The first was a 7-year-old Portuguese girl (patient 28608) who had excellent (20/20) visual acuity without nystagmus. She developed nyctalopia before age 2 and had 5-degree visual fields on Goldmann perimetry with nondetectable ERGs. The second patient was a French-Canadian man (patient 1348) who was found to have hand-motion vision at age 55 years. He reported initially normal vision in childhood that declined, with the development of night blindness and nystagmus. Examination revealed advanced retinal pigmentary degeneration, with narrow arterioles, optic disc pallor, and mild maculopathy. ERGs were nondetectable and visual fields were reduced to 5 degrees with the V4e target. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19268277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Avila-Fernandez, A., Corton, M., Lopez-Molina, M. I., Martin-Garrido, E., Cantalapiedra, D., Fernandez-Sanchez, R., Blanco-Kelly, F., Riveiro-Alvarez, R., Tatu, S. D., Trujillo-Tiebas, M. J., Garcia-Sandoval, B., Ayuso, C., Cremers, F. P. M. &lt;strong&gt;Late onset retinitis pigmentosa.&lt;/strong&gt; Ophthalmology 118: 2523-2524, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22136677/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22136677&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ophtha.2011.07.030&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22136677">Avila-Fernandez et al. (2011)</a> reported 2 Spanish sibs from a consanguineous family with late-onset RP and mutation in the SPATA7 gene. The proband developed night blindness at age 25 years, at which time visual fields were normal. At age 29, she experienced loss of peripheral visual fields, and reexamination showed narrowed retinal vessels and bone-spicule pigmentation in the peripheral retina, with subnormal rod responses on ERG. At age 31, her visual field was limited to 10 degrees, and the ERG showed severely decreased a- and b-wave responses with both scotopic and photopic stimulation. Her affected sib was asymptomatic, but mixed ERG at age 26 showed a moderate reduction in the amplitude of the a-wave and delay in both a- and b-wave latency bilaterally. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22136677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
<a href="#9" class="mim-tip-reference" title="Matsui, R., McGuigan, D. B., III, Gruzensky, M. L., Aleman, T. S., Schwartz, S. B., Sumaroka, A., Koenekoop, R. K., Cideciyan, A. V., Jacobson, S. G. &lt;strong&gt;SPATA7: evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.&lt;/strong&gt; Ophthalmic Genet. 37: 333-338, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26854980/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;26854980&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=26854980[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3109/13816810.2015.1130154&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="26854980">Matsui et al. (2016)</a> studied a Hispanic boy who presented with a cone-rod dystrophy phenotype that developed into late-stage RP, and who had mutation in the SPATA7 gene. The proband was diagnosed with RP at age 7 years, with retinal pigmentary changes on funduscopy and an abnormal ERG. At age 9, best-corrected visual acuity (BCVA) was 20/25 and 20/32, funduscopy showed a waxy optic disc, minimal vessel attenuation, bull's eye-like change in the macula, and a tigroid appearance of the peripheral retina. Full-field ERG showed reduced rod-mediated responses with nondetectable cone-mediated responses. Visual fields were severely limited to a small central island and midperipheral island of vision. The ERG and visual field findings were consistent with a cone-rod dystrophy. Follow-up over 12 years showed progressive loss of peripheral vision, and by age 17 years, only central vision was detectable. ERG at ages 17 and 21 years showed nondetectable rod function, whereas cone function remained measurable at fixation. OCT showed progressive thinning of the outer nuclear layer (ONL) and rod outer segments (ROS), with the ONL eventually barely detectable and the ROS unmeasurable. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26854980" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Sengillo, J. D., Lee, W., Bilancia, C. G., Jobanputra, V., Tsang, S. H. &lt;strong&gt;Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.&lt;/strong&gt; Doc. Ophthal. 136: 125-133, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29411205/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29411205&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=29411205[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10633-018-9626-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29411205">Sengillo et al. (2018)</a> reported a 63-year-old man who had RP with a choroideremia-like phenotype and mutation in the SPATA7 gene. The proband, who had a long history of progressive nyctalopia, visual field constriction, and reduction in visual acuity, and was diagnosed with RP at 31 years of age, presented with a recent subacute decrease in visual acuity of the left eye accompanied by a halo effect around objects. Upon examination, he had BCVAs of 20/30 and 20/60 in the right and left eyes, respectively, and funduscopy showed extensive chorioretinal degeneration of the peripheral retina, progressing toward the macula which contained islands of spared RPE. FAF imaging revealed widespread continuous loss of RPE encroaching on the central macula in both eyes. Spectral domain OCT confirmed those findings, and showed extensive degeneration and sclerosis of the choroid in areas of RPE loss, with focal areas of RPE thickening that were more prominent in the left eye. Full-field ERG revealed completely extinguished scotopic and photopic responses. On follow-up 2 years later, the proband reported no changes in vision, and examination showed BCVAs of 20/25 and 20/60, but progression of disease was evident on SD-OCT and FAF, with FAF confirming a reduction in the area of centrally spared RPE compared to baseline. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29411205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Feldhaus, B., Kohl, S., Hortnagel, K., Weisschuh, N., Zobor, D. &lt;strong&gt;Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.&lt;/strong&gt; Ophthalmic Genet. 39: 131-134, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28481129/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;28481129&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1080/13816810.2017.1318925&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="28481129">Feldhaus et al. (2018)</a> reported a German brother and sister with retinal degeneration and mutation in the SPATA7 gene. Upon examination, the 52-year-old brother was more severely affected than his 48-year-old sister. BCVA in the brother was 20/100 and 20/175, with concentric narrowing to 2 degrees. His sister had BCVAs of 20/160 bilaterally, with visual field narrowing to 40 degrees. ERG responses in the brother were nondetectable, with significantly elevated thresholds for dark adaptation, whereas ERG in the sister showed reduced cone and rod responses, with better-preserved rod function and moderately elevated thresholds for dark adaptation. Color vision testing showed color confusion without assignment to a specific axis in the brother, and a tritanomalous defect in the sister. Both had bone spicule-like pigmentation, more prominent in the brother, and both had attenuated arterioles and optic disc pallor. Central retinal thickness was normal in the brother and reduced in the sister. The clinical diagnosis in the brother was rod-cone dystrophy, whereas in the sister it was cone-rod dystrophy. Age at onset was not reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28481129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<div id="mimMappingFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#11" class="mim-tip-reference" title="Stockton, D. W., Lewis, R. A., Abboud, E. B., Al-Rajhi, A., Jabak, M., Anderson, K. L., Lupski, J. R. &lt;strong&gt;A novel locus for Leber congenital amaurosis on chromosome 14q24.&lt;/strong&gt; Hum. Genet. 103: 328-333, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9799089/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9799089&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390050825&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9799089">Stockton et al. (1998)</a> used a DNA pooling strategy comparing the genotypes of affected to unaffected control pools in a genomewide search for identity by descent in a consanguineous Saudi Arabian LCA family (KKESH-019). A shift to homozygosity was observed in the affected DNA pool compared with the control pool at linked markers D14S606 and D14S610. Testing of markers closely linked to and flanking these loci confirmed linkage with a maximum lod score of 13.29 at theta = 0.0. From these data, the LCA locus, designated LCA3, was assigned to 14q24. This locus and the previously identified loci for LCA were excluded in other Saudi Arabian pedigrees, indicating yet further genetic heterogeneity in LCA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9799089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using short tandem repeat markers in a Saudi Arabian family (KKESH-060) segregating LCA, <a href="#7" class="mim-tip-reference" title="Li, Y., Wang, H., Peng, J., Gibbs, R. A., Lewis, R. A., Lupski, J. R., Mardon, G., Chen, R. &lt;strong&gt;Mutation survey of known LCA genes and loci in the Saudi Arabian population.&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 50: 1336-1343, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18936139/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18936139&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18936139[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1167/iovs.08-2589&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18936139">Li et al. (2009)</a> found linkage of the disorder to the LCA3 locus at 14q24 (lod score of 3.0). All 3 affected members were homozygous between markers D14S61 and D14S1066, a 13.4-Mb interval, whereas unaffected family members were heterozygous or wildtype. <a href="#7" class="mim-tip-reference" title="Li, Y., Wang, H., Peng, J., Gibbs, R. A., Lewis, R. A., Lupski, J. R., Mardon, G., Chen, R. &lt;strong&gt;Mutation survey of known LCA genes and loci in the Saudi Arabian population.&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 50: 1336-1343, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18936139/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18936139&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18936139[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1167/iovs.08-2589&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18936139">Li et al. (2009)</a> noted that the haplotype in their family was different from that in the family reported by <a href="#11" class="mim-tip-reference" title="Stockton, D. W., Lewis, R. A., Abboud, E. B., Al-Rajhi, A., Jabak, M., Anderson, K. L., Lupski, J. R. &lt;strong&gt;A novel locus for Leber congenital amaurosis on chromosome 14q24.&lt;/strong&gt; Hum. Genet. 103: 328-333, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9799089/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9799089&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390050825&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9799089">Stockton et al. (1998)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18936139+9799089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By whole-genome SNP analysis and fine mapping of the distal boundary of the LCA3 locus in 1 affected subject from each of the 2 families with LCA previously studied by <a href="#11" class="mim-tip-reference" title="Stockton, D. W., Lewis, R. A., Abboud, E. B., Al-Rajhi, A., Jabak, M., Anderson, K. L., Lupski, J. R. &lt;strong&gt;A novel locus for Leber congenital amaurosis on chromosome 14q24.&lt;/strong&gt; Hum. Genet. 103: 328-333, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9799089/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9799089&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390050825&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9799089">Stockton et al. (1998)</a> and <a href="#7" class="mim-tip-reference" title="Li, Y., Wang, H., Peng, J., Gibbs, R. A., Lewis, R. A., Lupski, J. R., Mardon, G., Chen, R. &lt;strong&gt;Mutation survey of known LCA genes and loci in the Saudi Arabian population.&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 50: 1336-1343, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18936139/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18936139&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18936139[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1167/iovs.08-2589&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18936139">Li et al. (2009)</a>, <a href="#12" class="mim-tip-reference" title="Wang, H., den Hollander, A. I., Moayedi, Y., Abulimiti, A., Li, Y., Collin, R. W. J., Hoyng, C. B., Lopez, I., Abboud, E. B., Al-Rajhi, A. A., Bray, M., Lewis, R. A., Lupski, J. R., Mardon, G., Koenekoop, R. K., Chen, R. &lt;strong&gt;Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.&lt;/strong&gt; Am. J. Hum. Genet. 84: 380-387, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 293 only, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19268277/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19268277&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19268277[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2009.02.005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19268277">Wang et al. (2009)</a> refined the critical region of homozygosity to 3.8 Mb between markers D14S1022 and D14S1005 on chromosome 14q31.3. The critical region contained 9 candidate genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9799089+19268277+18936139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Spanish sibs from a consanguineous family with typical late-onset RP, <a href="#1" class="mim-tip-reference" title="Avila-Fernandez, A., Corton, M., Lopez-Molina, M. I., Martin-Garrido, E., Cantalapiedra, D., Fernandez-Sanchez, R., Blanco-Kelly, F., Riveiro-Alvarez, R., Tatu, S. D., Trujillo-Tiebas, M. J., Garcia-Sandoval, B., Ayuso, C., Cremers, F. P. M. &lt;strong&gt;Late onset retinitis pigmentosa.&lt;/strong&gt; Ophthalmology 118: 2523-2524, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22136677/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22136677&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ophtha.2011.07.030&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22136677">Avila-Fernandez et al. (2011)</a> performed genomewide linkage analysis followed by homozygosity mapping and identified a 3.7-Mb region on chromosome 14 with a lod score of 2.8 that encompassed the SPATA7 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22136677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><strong><em>Leber Congenital Amaurosis 3</em></strong></p><p>
In 2 unrelated Saudi Arabian families (KKESH-019 and KKESH-060) with Leber congenital amaurosis (LCA3; <a href="/entry/604232">604232</a>) previously reported by <a href="#11" class="mim-tip-reference" title="Stockton, D. W., Lewis, R. A., Abboud, E. B., Al-Rajhi, A., Jabak, M., Anderson, K. L., Lupski, J. R. &lt;strong&gt;A novel locus for Leber congenital amaurosis on chromosome 14q24.&lt;/strong&gt; Hum. Genet. 103: 328-333, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9799089/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9799089&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390050825&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9799089">Stockton et al. (1998)</a> and <a href="#7" class="mim-tip-reference" title="Li, Y., Wang, H., Peng, J., Gibbs, R. A., Lewis, R. A., Lupski, J. R., Mardon, G., Chen, R. &lt;strong&gt;Mutation survey of known LCA genes and loci in the Saudi Arabian population.&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 50: 1336-1343, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18936139/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18936139&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18936139[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1167/iovs.08-2589&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18936139">Li et al. (2009)</a>, respectively, <a href="#12" class="mim-tip-reference" title="Wang, H., den Hollander, A. I., Moayedi, Y., Abulimiti, A., Li, Y., Collin, R. W. J., Hoyng, C. B., Lopez, I., Abboud, E. B., Al-Rajhi, A. A., Bray, M., Lewis, R. A., Lupski, J. R., Mardon, G., Koenekoop, R. K., Chen, R. &lt;strong&gt;Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.&lt;/strong&gt; Am. J. Hum. Genet. 84: 380-387, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 293 only, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19268277/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19268277&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19268277[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2009.02.005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19268277">Wang et al. (2009)</a> sequenced 9 candidate genes and identified a homozygous mutation in the SPATA7 gene (R108X; <a href="/entry/609868#0001">609868.0001</a>) in family KKESH-060 that segregated with the disease and was not found in 50 Saudi Arabian and 100 European samples. Mutation analysis in additional patients revealed homozygosity for the same R108X mutation in a Dutch LCA patient as well as a frameshift mutation in another LCA patient of Middle Eastern origin (<a href="/entry/609868#0002">609868.0002</a>). <a href="#12" class="mim-tip-reference" title="Wang, H., den Hollander, A. I., Moayedi, Y., Abulimiti, A., Li, Y., Collin, R. W. J., Hoyng, C. B., Lopez, I., Abboud, E. B., Al-Rajhi, A. A., Bray, M., Lewis, R. A., Lupski, J. R., Mardon, G., Koenekoop, R. K., Chen, R. &lt;strong&gt;Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.&lt;/strong&gt; Am. J. Hum. Genet. 84: 380-387, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 293 only, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19268277/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19268277&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19268277[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2009.02.005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19268277">Wang et al. (2009)</a> also identified homozygous SPATA7 mutations in 2 patients with juvenile-onset retinitis pigmentosa (see later). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9799089+19268277+18936139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Mackay, D. S., Ocaka, L. A., Borman, A. D., Sergouniotis, P. I., Henderson, R. H., Moradi, P., Robson, A. G., Thompson, D. A., Webster, A. R., Moore, A. T. &lt;strong&gt;Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 52: 3032-3038, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21310915/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21310915&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1167/iovs.10-7025&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21310915">Mackay et al. (2011)</a> screened all coding exons in the SPATA7 gene in 141 patients diagnosed with LCA or early childhood-onset severe retinal dystrophy and identified 4 disease-causing mutations in 5 families. They concluded that mutations in SPATA7 are a rare cause of childhood retinal dystrophy, accounting for 1.7% of disease in their cohort. Four consanguineous families with LCA, 3 of Pakistani and 1 of Bangladeshi origin, had a homozygous mutation in exon 5 (<a href="/entry/609868#0007">609868.0007</a>) or exon 8 (<a href="/entry/609868#0002">609868.0002</a>). In a nonconsanguineous British Caucasian family, 2 brothers had compound heterozygous mutations, one in exon 5 (<a href="/entry/609868#0005">609868.0005</a>) and the other in exon 12 (<a href="/entry/609868#0006">609868.0006</a>). One of the brothers had clinical features consistent with LCA, having severe visual loss from early infancy, pendular nystagmus, and sluggish pupillary responses. His brother had a milder phenotype with onset of nystagmus at 8 weeks of age. He was able to fix and follow at this age. When older, he was noted to have severe nyctalopia and constricted visual fields. These symptoms deteriorated significantly from 14 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21310915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Retinitis Pigmentosa 94, Variable Age at Onset</em></strong></p><p>
In 2 patients with juvenile-onset retinitis pigmentosa (RP94; see <a href="/entry/604232">604232</a>), <a href="#12" class="mim-tip-reference" title="Wang, H., den Hollander, A. I., Moayedi, Y., Abulimiti, A., Li, Y., Collin, R. W. J., Hoyng, C. B., Lopez, I., Abboud, E. B., Al-Rajhi, A. A., Bray, M., Lewis, R. A., Lupski, J. R., Mardon, G., Koenekoop, R. K., Chen, R. &lt;strong&gt;Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.&lt;/strong&gt; Am. J. Hum. Genet. 84: 380-387, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 293 only, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19268277/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19268277&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19268277[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2009.02.005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19268277">Wang et al. (2009)</a> identified homozygosity for 2 different different nonsense and frameshift mutations in the SPATA7 gene (<a href="/entry/609868#0003">609868.0003</a> and <a href="/entry/609868#0004">609868.0004</a>, respectively). <a href="#12" class="mim-tip-reference" title="Wang, H., den Hollander, A. I., Moayedi, Y., Abulimiti, A., Li, Y., Collin, R. W. J., Hoyng, C. B., Lopez, I., Abboud, E. B., Al-Rajhi, A. A., Bray, M., Lewis, R. A., Lupski, J. R., Mardon, G., Koenekoop, R. K., Chen, R. &lt;strong&gt;Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.&lt;/strong&gt; Am. J. Hum. Genet. 84: 380-387, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 293 only, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19268277/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19268277&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19268277[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2009.02.005&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19268277">Wang et al. (2009)</a> noted that, consistent with the observation that LCA has a more severe clinical phenotype than juvenile RP, the nonsense mutations associated with LCA are located in the middle of the SPATA7 coding region, whereas those associated with juvenile RP are located in the last 2 exons of SPATA7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19268277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Spanish sibs from a consanguineous family with typical late-onset RP mapping to the SPATA7 locus on chromosome 14, <a href="#1" class="mim-tip-reference" title="Avila-Fernandez, A., Corton, M., Lopez-Molina, M. I., Martin-Garrido, E., Cantalapiedra, D., Fernandez-Sanchez, R., Blanco-Kelly, F., Riveiro-Alvarez, R., Tatu, S. D., Trujillo-Tiebas, M. J., Garcia-Sandoval, B., Ayuso, C., Cremers, F. P. M. &lt;strong&gt;Late onset retinitis pigmentosa.&lt;/strong&gt; Ophthalmology 118: 2523-2524, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22136677/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22136677&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ophtha.2011.07.030&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22136677">Avila-Fernandez et al. (2011)</a> identified homozygosity for the R85X mutation in the SPATA7 gene (<a href="/entry/609868#0007">609868.0007</a>), previously reported in affected individuals from 3 families with LCA (<a href="#8" class="mim-tip-reference" title="Mackay, D. S., Ocaka, L. A., Borman, A. D., Sergouniotis, P. I., Henderson, R. H., Moradi, P., Robson, A. G., Thompson, D. A., Webster, A. R., Moore, A. T. &lt;strong&gt;Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 52: 3032-3038, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21310915/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21310915&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1167/iovs.10-7025&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21310915">Mackay et al., 2011</a>). <a href="#1" class="mim-tip-reference" title="Avila-Fernandez, A., Corton, M., Lopez-Molina, M. I., Martin-Garrido, E., Cantalapiedra, D., Fernandez-Sanchez, R., Blanco-Kelly, F., Riveiro-Alvarez, R., Tatu, S. D., Trujillo-Tiebas, M. J., Garcia-Sandoval, B., Ayuso, C., Cremers, F. P. M. &lt;strong&gt;Late onset retinitis pigmentosa.&lt;/strong&gt; Ophthalmology 118: 2523-2524, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22136677/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22136677&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ophtha.2011.07.030&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22136677">Avila-Fernandez et al. (2011)</a> suggested that the phenotypic variability might be explained by modifier alleles contributing to penetrance and expressivity, or intronic variants influencing severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22136677+21310915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 21-year-old Hispanic man with retinal degeneration that had progressed over 12 years from a cone-rod dystrophy phenotype to a late-stage RP phenotype, <a href="#9" class="mim-tip-reference" title="Matsui, R., McGuigan, D. B., III, Gruzensky, M. L., Aleman, T. S., Schwartz, S. B., Sumaroka, A., Koenekoop, R. K., Cideciyan, A. V., Jacobson, S. G. &lt;strong&gt;SPATA7: evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.&lt;/strong&gt; Ophthalmic Genet. 37: 333-338, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26854980/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;26854980&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=26854980[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3109/13816810.2015.1130154&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="26854980">Matsui et al. (2016)</a> screened 163 retinal disease-associated genes and identified homozygosity for a 1-bp deletion in the SPATA7 gene (<a href="/entry/609868#0008">609868.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26854980" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 63-year-old man who had severe RP associated with prominent RPE atrophy and choroidal sclerosis, <a href="#10" class="mim-tip-reference" title="Sengillo, J. D., Lee, W., Bilancia, C. G., Jobanputra, V., Tsang, S. H. &lt;strong&gt;Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.&lt;/strong&gt; Doc. Ophthal. 136: 125-133, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29411205/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29411205&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=29411205[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10633-018-9626-1&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29411205">Sengillo et al. (2018)</a> performed whole-exome sequencing and identified compound heterozygosity for mutations in the SPATA7 gene: a missense mutation (Y367C; <a href="/entry/609868#0009">609868.0009</a>) and a 2-bp deletion (<a href="/entry/609868#0010">609868.0010</a>). An unaffected family member was heterozygous for 1 of the variants, both of which were present at very low minor allele frequency (less than 0.00003) in the gnomAD database. The authors stated that future studies were needed to discern whether unidentified genetic modifiers were involved or whether this represented a phenotypic subset of SPATA7-associated retinal degeneration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29411205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a German brother and sister with retinal degeneration, diagnosed as rod-cone and cone-rod dystrophy, respectively, <a href="#4" class="mim-tip-reference" title="Feldhaus, B., Kohl, S., Hortnagel, K., Weisschuh, N., Zobor, D. &lt;strong&gt;Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.&lt;/strong&gt; Ophthalmic Genet. 39: 131-134, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28481129/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;28481129&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1080/13816810.2017.1318925&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="28481129">Feldhaus et al. (2018)</a> analyzed genomic DNA using a panel of 286 retinal disease-associated genes and identified homozygosity for a missense mutation in the SPATA7 gene (I371T; <a href="/entry/609868#0011">609868.0011</a>). The variant, which was found at low minor allele frequency (0.0003249) in the ExAC database, was present in heterozygosity in their 85-year-old mother, who had normal age-related findings on all tests; DNA was unavailable from the father. The authors noted that although the sibs were homozygous for the same mutation, they exhibited phenotypic variability, and thus genotype/phenotype correlation remained difficult. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28481129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="nomenclature" class="mim-anchor"></a>
<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<div id="mimNomenclatureFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>Leber congenital amaurosis-13 (<a href="/entry/612712">612712</a>), which is caused by mutation in the RDH12 gene (<a href="/entry/608830">608830</a>) on chromosome 14q23.3, was originally thought to be the same as LCA3. However, affected members of the Saudi Arabian family reported by <a href="#11" class="mim-tip-reference" title="Stockton, D. W., Lewis, R. A., Abboud, E. B., Al-Rajhi, A., Jabak, M., Anderson, K. L., Lupski, J. R. &lt;strong&gt;A novel locus for Leber congenital amaurosis on chromosome 14q24.&lt;/strong&gt; Hum. Genet. 103: 328-333, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9799089/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9799089&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390050825&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9799089">Stockton et al. (1998)</a> do not have mutations in the RDH12 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9799089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="animalModel" class="mim-anchor"></a>
<h4 href="#mimAnimalModelFold" id="mimAnimalModelToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimAnimalModelToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<div id="mimAnimalModelFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#3" class="mim-tip-reference" title="Eblimit, A., Nguyen, T.-M. T., Chen, Y., Esteve-Rudd, J., Zhong, H., Letteboer, S., Van Reeuwijk, J., Simons, D. L., Ding, Q., Wu, K. M., Li, Y., Van Beersum, S., and 10 others. &lt;strong&gt;Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.&lt;/strong&gt; Hum. Molec. Genet. 24: 1584-601, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25398945/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25398945&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=25398945[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddu573&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25398945">Eblimit et al. (2015)</a> generated Spata7-knockout mice and observed severe early-onset retinal defects, with a marked reduction in the thickness of the outer nuclear layer compared to wildtype mice. The loss in thickness was progressive, suggesting that photoreceptor cells degenerate in the absence of Spata7 function; other cell types in the mutant retinas were unaffected. Quantification of cone and rod cells per unit area indicated that cone photoreceptor degeneration proceeds at a substantially lower rate compared to rods in Spata7-mutant retinas. Transmission electron microscopy revealed shortened outer segments and disorganization of the disc membranes in mutant retinas compared to wildtype retinas, where the discs were well-organized into stacks. Analysis of rod and cone electroretinography (ERG) responses in the Spata7-null mice showed a decline in rod responses by postnatal day (P) 15 that became more pronounced with age, whereas cone-mediated responses showed only a slight age-dependent decline. Rod function was almost undetectable by age 12 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25398945" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Eblimit, A., Agrawal, S. A., Thomas, K., Anastassov, I. A., Abulikemu, T., Moayedi, Y., Mardon, G., Chen, R. &lt;strong&gt;Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice.&lt;/strong&gt; Exp. Eye Res. 166: 120-130, 2018. Note: Erratum: Exp Eye Res. 171: 119, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29100828/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;29100828&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=29100828[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.exer.2017.10.015&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="29100828">Eblimit et al. (2018)</a> generated a conditional SPATA7-knockout allele to determine which cell type requires Spata7 function for photoreceptor survival. In Spata7 photoreceptor-specific conditional knockout mice, both rod and cone photoreceptor dysfunction and degeneration was observed, characterized by progressive thinning of the outer nuclear layer and reduced response to light. However, RPE-specific deletion of Spata7 did not impair retinal function or cell survival. The authors noted that the alteration in both rod and cone function resulting from loss of Spata7 in photoreceptors was consistent with the clinical phenotypes of LCA and RP observed in patients with SPATA7 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29100828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Avila-Fernandez2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Avila-Fernandez, A., Corton, M., Lopez-Molina, M. I., Martin-Garrido, E., Cantalapiedra, D., Fernandez-Sanchez, R., Blanco-Kelly, F., Riveiro-Alvarez, R., Tatu, S. D., Trujillo-Tiebas, M. J., Garcia-Sandoval, B., Ayuso, C., Cremers, F. P. M.
<strong>Late onset retinitis pigmentosa.</strong>
Ophthalmology 118: 2523-2524, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22136677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22136677</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22136677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ophtha.2011.07.030" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Eblimit2018" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Eblimit, A., Agrawal, S. A., Thomas, K., Anastassov, I. A., Abulikemu, T., Moayedi, Y., Mardon, G., Chen, R.
<strong>Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice.</strong>
Exp. Eye Res. 166: 120-130, 2018. Note: Erratum: Exp Eye Res. 171: 119, 2018.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29100828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29100828</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29100828[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29100828" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.exer.2017.10.015" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Eblimit2015" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Eblimit, A., Nguyen, T.-M. T., Chen, Y., Esteve-Rudd, J., Zhong, H., Letteboer, S., Van Reeuwijk, J., Simons, D. L., Ding, Q., Wu, K. M., Li, Y., Van Beersum, S., and 10 others.
<strong>Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.</strong>
Hum. Molec. Genet. 24: 1584-601, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25398945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25398945</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25398945[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25398945" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddu573" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Feldhaus2018" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Feldhaus, B., Kohl, S., Hortnagel, K., Weisschuh, N., Zobor, D.
<strong>Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.</strong>
Ophthalmic Genet. 39: 131-134, 2018.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28481129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28481129</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28481129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1080/13816810.2017.1318925" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Gu1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gu, S., Thompson, D. A., Srikumari, C. R. S., Lorenz, B., Finckh, U., Nicoletti, A., Murthy, K. R., Rathmann, M., Kumaramanickavel, G., Denton, M. J., Gal, A.
<strong>Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.</strong>
Nature Genet. 17: 194-197, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9326941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng1097-194" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Kannabiran2020" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kannabiran, C.
<strong>The spermatogenesis-associated protein-7 (SPATA7) gene--an overview.</strong>
Ophthalmic Genet. 41: 513-517, 2020.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32799588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32799588</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32799588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1080/13816810.2020.1807025" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Li2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Li, Y., Wang, H., Peng, J., Gibbs, R. A., Lewis, R. A., Lupski, J. R., Mardon, G., Chen, R.
<strong>Mutation survey of known LCA genes and loci in the Saudi Arabian population.</strong>
Invest. Ophthal. Vis. Sci. 50: 1336-1343, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18936139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18936139</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18936139[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18936139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1167/iovs.08-2589" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Mackay2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mackay, D. S., Ocaka, L. A., Borman, A. D., Sergouniotis, P. I., Henderson, R. H., Moradi, P., Robson, A. G., Thompson, D. A., Webster, A. R., Moore, A. T.
<strong>Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.</strong>
Invest. Ophthal. Vis. Sci. 52: 3032-3038, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21310915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21310915</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21310915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1167/iovs.10-7025" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Matsui2016" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Matsui, R., McGuigan, D. B., III, Gruzensky, M. L., Aleman, T. S., Schwartz, S. B., Sumaroka, A., Koenekoop, R. K., Cideciyan, A. V., Jacobson, S. G.
<strong>SPATA7: evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.</strong>
Ophthalmic Genet. 37: 333-338, 2016.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26854980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26854980</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26854980[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26854980" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.3109/13816810.2015.1130154" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Sengillo2018" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sengillo, J. D., Lee, W., Bilancia, C. G., Jobanputra, V., Tsang, S. H.
<strong>Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.</strong>
Doc. Ophthal. 136: 125-133, 2018.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29411205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29411205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29411205[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29411205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s10633-018-9626-1" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Stockton1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Stockton, D. W., Lewis, R. A., Abboud, E. B., Al-Rajhi, A., Jabak, M., Anderson, K. L., Lupski, J. R.
<strong>A novel locus for Leber congenital amaurosis on chromosome 14q24.</strong>
Hum. Genet. 103: 328-333, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9799089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9799089</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9799089" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s004390050825" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Wang2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wang, H., den Hollander, A. I., Moayedi, Y., Abulimiti, A., Li, Y., Collin, R. W. J., Hoyng, C. B., Lopez, I., Abboud, E. B., Al-Rajhi, A. A., Bray, M., Lewis, R. A., Lupski, J. R., Mardon, G., Koenekoop, R. K., Chen, R.
<strong>Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.</strong>
Am. J. Hum. Genet. 84: 380-387, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 293 only, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19268277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19268277</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19268277[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19268277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ajhg.2009.02.005" target="_blank">Full Text</a>]
</p>
</div>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="contributors" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="mim-text-font">
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Marla J. F. O'Neill - updated : 06/28/2022
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseContributors">
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Jane Kelly - updated : 8/16/2011<br>Marla J. F. O'Neill - updated : 4/6/2010<br>Marla J. F. O'Neill - updated : 4/13/2009<br>Carol A. Bocchini - updated : 4/3/2009<br>Jane Kelly - updated : 6/5/2008<br>Victor A. McKusick - updated : 9/9/2004
</span>
</div>
</div>
</div>
<div>
<a id="creationDate" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 10/14/1999
</span>
</div>
</div>
</div>
<div>
<a id="editHistory" class="mim-anchor"></a>
<div class="row">
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
<span class="text-nowrap mim-text-font">
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
alopez : 06/28/2022
</span>
</div>
</div>
<div class="row collapse" id="mimCollapseEditHistory">
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
carol : 05/17/2016<br>carol : 12/21/2011<br>terry : 12/21/2011<br>carol : 8/22/2011<br>terry : 8/16/2011<br>carol : 4/6/2010<br>carol : 3/19/2010<br>wwang : 4/15/2009<br>terry : 4/13/2009<br>carol : 4/3/2009<br>terry : 4/3/2009<br>carol : 4/3/2009<br>carol : 6/5/2008<br>carol : 9/29/2007<br>tkritzer : 9/13/2004<br>tkritzer : 9/10/2004<br>terry : 9/9/2004<br>mgross : 3/18/2004<br>carol : 10/15/1999<br>carol : 10/15/1999
</span>
</div>
</div>
</div>
</div>
</div>
</div>
<div class="container visible-print-block">
<div class="row">
<div class="col-md-8 col-md-offset-1">
<div>
<div>
<h3>
<span class="mim-font">
<strong>#</strong> 604232
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
LEBER CONGENITAL AMAUROSIS 3; LCA3
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
RETINITIS PIGMENTOSA 94, VARIABLE AGE AT ONSET, INCLUDED; RP94, INCLUDED
</span>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<p>
<span class="mim-text-font">
<strong>ORPHA:</strong> 65, 791; &nbsp;
<strong>DO:</strong> 0110331; &nbsp;
</span>
</p>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
14q31.3
</span>
</td>
<td>
<span class="mim-font">
Leber congenital amaurosis 3
</span>
</td>
<td>
<span class="mim-font">
604232
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
SPATA7
</span>
</td>
<td>
<span class="mim-font">
609868
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
14q31.3
</span>
</td>
<td>
<span class="mim-font">
Retinitis pigmentosa 94, variable age at onset, autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
604232
</span>
</td>
<td>
<span class="mim-font">
Autosomal recessive
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
SPATA7
</span>
</td>
<td>
<span class="mim-font">
609868
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because Leber congenital amaurosis-3 (LCA3) and a form of retinitis pigmentosa with variable age at onset (RP94) are caused by homozygous or compound heterozygous mutation in the SPATA7 gene (609868) on chromosome 14q31.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered retinitis pigmentosa (Gu et al., 1997). SPATA7-associated retinopathy shows a variable age at onset, ranging from infancy to adulthood, as well as phenotypic variability, including intrafamilial differences (Wang et al., 2009; Avila-Fernandez et al., 2011; Feldhaus et al., 2018; Sengillo et al., 2018). </p><p>Mackay et al. (2011) concluded that SPATA7 retinopathy is an infantile-onset severe cone-rod dystrophy with early extensive peripheral retinal atrophy but with variable foveal involvement. </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.</p><p><strong><em>Reviews</em></strong></p><p>
Kannabiran (2020) reviewed reported SPATA7 mutations and the associated phenotypes. The author noted that there were no clear-cut correlations between genotype and phenotype, and that phenotypic heterogeneity had been observed among patients with the same mutation. Clinical variability was also often seen in patients with SPATA7 mutations, with some phenotypes resembling cone-rod dystrophy or choroideremia. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Stockton et al. (1998) reported a large consanguineous Saudi Arabian kindred (KKESH-019) segregating Leber congenital amaurosis. In addition to poor visual acuity (typically less than 5/200), affected individuals manifested moderate midfacial hypoplasia with enophthalmos, complex vertical, horizontal, and rotatory nystagmus present from early life, moderate hypermetropic refractive errors with astigmatism, and various presentations of esotropia and exotropia. At least 4 individuals had hospital-based electroretinograms (ERGs) which were nonrecordable in both photopic and scotopic components in the first 2 years of life. </p><p>Li et al. (2009) reported a Saudi Arabian family (KKESH-060) segregating LCA. The 3 affected sibs had poor vision, nonrecordable ERGs, hypermetropic astigmatism, and infantile nystagmus. Two also showed neuroretinal atrophy and markedly attenuated vessels of the fundi. </p><p>Mackay et al. (2011) reported affected members of 5 unrelated families with LCA3. The retina had widespread retinal pigment epithelial atrophy, with minimal pigment migration into the neurosensory retina. Fundus autofluorescence (FAF) imaging showed a parafoveal annulus of increased autofluorescence. High-definition optical coherence tomography (OCT) showed preservation of the inner/outer segment junction at the fovea. </p><p><strong><em>Retinitis Pigmentosa 94, with Variable Age at Onset</em></strong></p><p>
Wang et al. (2009) reported 2 unrelated patients with juvenile-onset retinitis pigmentosa (RP) and mutation in the SPATA7 gene. The first was a 7-year-old Portuguese girl (patient 28608) who had excellent (20/20) visual acuity without nystagmus. She developed nyctalopia before age 2 and had 5-degree visual fields on Goldmann perimetry with nondetectable ERGs. The second patient was a French-Canadian man (patient 1348) who was found to have hand-motion vision at age 55 years. He reported initially normal vision in childhood that declined, with the development of night blindness and nystagmus. Examination revealed advanced retinal pigmentary degeneration, with narrow arterioles, optic disc pallor, and mild maculopathy. ERGs were nondetectable and visual fields were reduced to 5 degrees with the V4e target. </p><p>Avila-Fernandez et al. (2011) reported 2 Spanish sibs from a consanguineous family with late-onset RP and mutation in the SPATA7 gene. The proband developed night blindness at age 25 years, at which time visual fields were normal. At age 29, she experienced loss of peripheral visual fields, and reexamination showed narrowed retinal vessels and bone-spicule pigmentation in the peripheral retina, with subnormal rod responses on ERG. At age 31, her visual field was limited to 10 degrees, and the ERG showed severely decreased a- and b-wave responses with both scotopic and photopic stimulation. Her affected sib was asymptomatic, but mixed ERG at age 26 showed a moderate reduction in the amplitude of the a-wave and delay in both a- and b-wave latency bilaterally. </p><p><strong><em>Clinical Variability</em></strong></p><p>
Matsui et al. (2016) studied a Hispanic boy who presented with a cone-rod dystrophy phenotype that developed into late-stage RP, and who had mutation in the SPATA7 gene. The proband was diagnosed with RP at age 7 years, with retinal pigmentary changes on funduscopy and an abnormal ERG. At age 9, best-corrected visual acuity (BCVA) was 20/25 and 20/32, funduscopy showed a waxy optic disc, minimal vessel attenuation, bull's eye-like change in the macula, and a tigroid appearance of the peripheral retina. Full-field ERG showed reduced rod-mediated responses with nondetectable cone-mediated responses. Visual fields were severely limited to a small central island and midperipheral island of vision. The ERG and visual field findings were consistent with a cone-rod dystrophy. Follow-up over 12 years showed progressive loss of peripheral vision, and by age 17 years, only central vision was detectable. ERG at ages 17 and 21 years showed nondetectable rod function, whereas cone function remained measurable at fixation. OCT showed progressive thinning of the outer nuclear layer (ONL) and rod outer segments (ROS), with the ONL eventually barely detectable and the ROS unmeasurable. </p><p>Sengillo et al. (2018) reported a 63-year-old man who had RP with a choroideremia-like phenotype and mutation in the SPATA7 gene. The proband, who had a long history of progressive nyctalopia, visual field constriction, and reduction in visual acuity, and was diagnosed with RP at 31 years of age, presented with a recent subacute decrease in visual acuity of the left eye accompanied by a halo effect around objects. Upon examination, he had BCVAs of 20/30 and 20/60 in the right and left eyes, respectively, and funduscopy showed extensive chorioretinal degeneration of the peripheral retina, progressing toward the macula which contained islands of spared RPE. FAF imaging revealed widespread continuous loss of RPE encroaching on the central macula in both eyes. Spectral domain OCT confirmed those findings, and showed extensive degeneration and sclerosis of the choroid in areas of RPE loss, with focal areas of RPE thickening that were more prominent in the left eye. Full-field ERG revealed completely extinguished scotopic and photopic responses. On follow-up 2 years later, the proband reported no changes in vision, and examination showed BCVAs of 20/25 and 20/60, but progression of disease was evident on SD-OCT and FAF, with FAF confirming a reduction in the area of centrally spared RPE compared to baseline. </p><p>Feldhaus et al. (2018) reported a German brother and sister with retinal degeneration and mutation in the SPATA7 gene. Upon examination, the 52-year-old brother was more severely affected than his 48-year-old sister. BCVA in the brother was 20/100 and 20/175, with concentric narrowing to 2 degrees. His sister had BCVAs of 20/160 bilaterally, with visual field narrowing to 40 degrees. ERG responses in the brother were nondetectable, with significantly elevated thresholds for dark adaptation, whereas ERG in the sister showed reduced cone and rod responses, with better-preserved rod function and moderately elevated thresholds for dark adaptation. Color vision testing showed color confusion without assignment to a specific axis in the brother, and a tritanomalous defect in the sister. Both had bone spicule-like pigmentation, more prominent in the brother, and both had attenuated arterioles and optic disc pallor. Central retinal thickness was normal in the brother and reduced in the sister. The clinical diagnosis in the brother was rod-cone dystrophy, whereas in the sister it was cone-rod dystrophy. Age at onset was not reported. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Stockton et al. (1998) used a DNA pooling strategy comparing the genotypes of affected to unaffected control pools in a genomewide search for identity by descent in a consanguineous Saudi Arabian LCA family (KKESH-019). A shift to homozygosity was observed in the affected DNA pool compared with the control pool at linked markers D14S606 and D14S610. Testing of markers closely linked to and flanking these loci confirmed linkage with a maximum lod score of 13.29 at theta = 0.0. From these data, the LCA locus, designated LCA3, was assigned to 14q24. This locus and the previously identified loci for LCA were excluded in other Saudi Arabian pedigrees, indicating yet further genetic heterogeneity in LCA. </p><p>Using short tandem repeat markers in a Saudi Arabian family (KKESH-060) segregating LCA, Li et al. (2009) found linkage of the disorder to the LCA3 locus at 14q24 (lod score of 3.0). All 3 affected members were homozygous between markers D14S61 and D14S1066, a 13.4-Mb interval, whereas unaffected family members were heterozygous or wildtype. Li et al. (2009) noted that the haplotype in their family was different from that in the family reported by Stockton et al. (1998). </p><p>By whole-genome SNP analysis and fine mapping of the distal boundary of the LCA3 locus in 1 affected subject from each of the 2 families with LCA previously studied by Stockton et al. (1998) and Li et al. (2009), Wang et al. (2009) refined the critical region of homozygosity to 3.8 Mb between markers D14S1022 and D14S1005 on chromosome 14q31.3. The critical region contained 9 candidate genes. </p><p>In 2 Spanish sibs from a consanguineous family with typical late-onset RP, Avila-Fernandez et al. (2011) performed genomewide linkage analysis followed by homozygosity mapping and identified a 3.7-Mb region on chromosome 14 with a lod score of 2.8 that encompassed the SPATA7 gene. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p><strong><em>Leber Congenital Amaurosis 3</em></strong></p><p>
In 2 unrelated Saudi Arabian families (KKESH-019 and KKESH-060) with Leber congenital amaurosis (LCA3; 604232) previously reported by Stockton et al. (1998) and Li et al. (2009), respectively, Wang et al. (2009) sequenced 9 candidate genes and identified a homozygous mutation in the SPATA7 gene (R108X; 609868.0001) in family KKESH-060 that segregated with the disease and was not found in 50 Saudi Arabian and 100 European samples. Mutation analysis in additional patients revealed homozygosity for the same R108X mutation in a Dutch LCA patient as well as a frameshift mutation in another LCA patient of Middle Eastern origin (609868.0002). Wang et al. (2009) also identified homozygous SPATA7 mutations in 2 patients with juvenile-onset retinitis pigmentosa (see later). </p><p>Mackay et al. (2011) screened all coding exons in the SPATA7 gene in 141 patients diagnosed with LCA or early childhood-onset severe retinal dystrophy and identified 4 disease-causing mutations in 5 families. They concluded that mutations in SPATA7 are a rare cause of childhood retinal dystrophy, accounting for 1.7% of disease in their cohort. Four consanguineous families with LCA, 3 of Pakistani and 1 of Bangladeshi origin, had a homozygous mutation in exon 5 (609868.0007) or exon 8 (609868.0002). In a nonconsanguineous British Caucasian family, 2 brothers had compound heterozygous mutations, one in exon 5 (609868.0005) and the other in exon 12 (609868.0006). One of the brothers had clinical features consistent with LCA, having severe visual loss from early infancy, pendular nystagmus, and sluggish pupillary responses. His brother had a milder phenotype with onset of nystagmus at 8 weeks of age. He was able to fix and follow at this age. When older, he was noted to have severe nyctalopia and constricted visual fields. These symptoms deteriorated significantly from 14 years of age. </p><p><strong><em>Retinitis Pigmentosa 94, Variable Age at Onset</em></strong></p><p>
In 2 patients with juvenile-onset retinitis pigmentosa (RP94; see 604232), Wang et al. (2009) identified homozygosity for 2 different different nonsense and frameshift mutations in the SPATA7 gene (609868.0003 and 609868.0004, respectively). Wang et al. (2009) noted that, consistent with the observation that LCA has a more severe clinical phenotype than juvenile RP, the nonsense mutations associated with LCA are located in the middle of the SPATA7 coding region, whereas those associated with juvenile RP are located in the last 2 exons of SPATA7. </p><p>In 2 Spanish sibs from a consanguineous family with typical late-onset RP mapping to the SPATA7 locus on chromosome 14, Avila-Fernandez et al. (2011) identified homozygosity for the R85X mutation in the SPATA7 gene (609868.0007), previously reported in affected individuals from 3 families with LCA (Mackay et al., 2011). Avila-Fernandez et al. (2011) suggested that the phenotypic variability might be explained by modifier alleles contributing to penetrance and expressivity, or intronic variants influencing severity. </p><p>In a 21-year-old Hispanic man with retinal degeneration that had progressed over 12 years from a cone-rod dystrophy phenotype to a late-stage RP phenotype, Matsui et al. (2016) screened 163 retinal disease-associated genes and identified homozygosity for a 1-bp deletion in the SPATA7 gene (609868.0008). </p><p>In a 63-year-old man who had severe RP associated with prominent RPE atrophy and choroidal sclerosis, Sengillo et al. (2018) performed whole-exome sequencing and identified compound heterozygosity for mutations in the SPATA7 gene: a missense mutation (Y367C; 609868.0009) and a 2-bp deletion (609868.0010). An unaffected family member was heterozygous for 1 of the variants, both of which were present at very low minor allele frequency (less than 0.00003) in the gnomAD database. The authors stated that future studies were needed to discern whether unidentified genetic modifiers were involved or whether this represented a phenotypic subset of SPATA7-associated retinal degeneration. </p><p>In a German brother and sister with retinal degeneration, diagnosed as rod-cone and cone-rod dystrophy, respectively, Feldhaus et al. (2018) analyzed genomic DNA using a panel of 286 retinal disease-associated genes and identified homozygosity for a missense mutation in the SPATA7 gene (I371T; 609868.0011). The variant, which was found at low minor allele frequency (0.0003249) in the ExAC database, was present in heterozygosity in their 85-year-old mother, who had normal age-related findings on all tests; DNA was unavailable from the father. The authors noted that although the sibs were homozygous for the same mutation, they exhibited phenotypic variability, and thus genotype/phenotype correlation remained difficult. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Leber congenital amaurosis-13 (612712), which is caused by mutation in the RDH12 gene (608830) on chromosome 14q23.3, was originally thought to be the same as LCA3. However, affected members of the Saudi Arabian family reported by Stockton et al. (1998) do not have mutations in the RDH12 gene. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Eblimit et al. (2015) generated Spata7-knockout mice and observed severe early-onset retinal defects, with a marked reduction in the thickness of the outer nuclear layer compared to wildtype mice. The loss in thickness was progressive, suggesting that photoreceptor cells degenerate in the absence of Spata7 function; other cell types in the mutant retinas were unaffected. Quantification of cone and rod cells per unit area indicated that cone photoreceptor degeneration proceeds at a substantially lower rate compared to rods in Spata7-mutant retinas. Transmission electron microscopy revealed shortened outer segments and disorganization of the disc membranes in mutant retinas compared to wildtype retinas, where the discs were well-organized into stacks. Analysis of rod and cone electroretinography (ERG) responses in the Spata7-null mice showed a decline in rod responses by postnatal day (P) 15 that became more pronounced with age, whereas cone-mediated responses showed only a slight age-dependent decline. Rod function was almost undetectable by age 12 months. </p><p>Eblimit et al. (2018) generated a conditional SPATA7-knockout allele to determine which cell type requires Spata7 function for photoreceptor survival. In Spata7 photoreceptor-specific conditional knockout mice, both rod and cone photoreceptor dysfunction and degeneration was observed, characterized by progressive thinning of the outer nuclear layer and reduced response to light. However, RPE-specific deletion of Spata7 did not impair retinal function or cell survival. The authors noted that the alteration in both rod and cone function resulting from loss of Spata7 in photoreceptors was consistent with the clinical phenotypes of LCA and RP observed in patients with SPATA7 mutations. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Avila-Fernandez, A., Corton, M., Lopez-Molina, M. I., Martin-Garrido, E., Cantalapiedra, D., Fernandez-Sanchez, R., Blanco-Kelly, F., Riveiro-Alvarez, R., Tatu, S. D., Trujillo-Tiebas, M. J., Garcia-Sandoval, B., Ayuso, C., Cremers, F. P. M.
<strong>Late onset retinitis pigmentosa.</strong>
Ophthalmology 118: 2523-2524, 2011.
[PubMed: 22136677]
[Full Text: https://doi.org/10.1016/j.ophtha.2011.07.030]
</p>
</li>
<li>
<p class="mim-text-font">
Eblimit, A., Agrawal, S. A., Thomas, K., Anastassov, I. A., Abulikemu, T., Moayedi, Y., Mardon, G., Chen, R.
<strong>Conditional loss of Spata7 in photoreceptors causes progressive retinal degeneration in mice.</strong>
Exp. Eye Res. 166: 120-130, 2018. Note: Erratum: Exp Eye Res. 171: 119, 2018.
[PubMed: 29100828]
[Full Text: https://doi.org/10.1016/j.exer.2017.10.015]
</p>
</li>
<li>
<p class="mim-text-font">
Eblimit, A., Nguyen, T.-M. T., Chen, Y., Esteve-Rudd, J., Zhong, H., Letteboer, S., Van Reeuwijk, J., Simons, D. L., Ding, Q., Wu, K. M., Li, Y., Van Beersum, S., and 10 others.
<strong>Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.</strong>
Hum. Molec. Genet. 24: 1584-601, 2015.
[PubMed: 25398945]
[Full Text: https://doi.org/10.1093/hmg/ddu573]
</p>
</li>
<li>
<p class="mim-text-font">
Feldhaus, B., Kohl, S., Hortnagel, K., Weisschuh, N., Zobor, D.
<strong>Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.</strong>
Ophthalmic Genet. 39: 131-134, 2018.
[PubMed: 28481129]
[Full Text: https://doi.org/10.1080/13816810.2017.1318925]
</p>
</li>
<li>
<p class="mim-text-font">
Gu, S., Thompson, D. A., Srikumari, C. R. S., Lorenz, B., Finckh, U., Nicoletti, A., Murthy, K. R., Rathmann, M., Kumaramanickavel, G., Denton, M. J., Gal, A.
<strong>Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.</strong>
Nature Genet. 17: 194-197, 1997.
[PubMed: 9326941]
[Full Text: https://doi.org/10.1038/ng1097-194]
</p>
</li>
<li>
<p class="mim-text-font">
Kannabiran, C.
<strong>The spermatogenesis-associated protein-7 (SPATA7) gene--an overview.</strong>
Ophthalmic Genet. 41: 513-517, 2020.
[PubMed: 32799588]
[Full Text: https://doi.org/10.1080/13816810.2020.1807025]
</p>
</li>
<li>
<p class="mim-text-font">
Li, Y., Wang, H., Peng, J., Gibbs, R. A., Lewis, R. A., Lupski, J. R., Mardon, G., Chen, R.
<strong>Mutation survey of known LCA genes and loci in the Saudi Arabian population.</strong>
Invest. Ophthal. Vis. Sci. 50: 1336-1343, 2009.
[PubMed: 18936139]
[Full Text: https://doi.org/10.1167/iovs.08-2589]
</p>
</li>
<li>
<p class="mim-text-font">
Mackay, D. S., Ocaka, L. A., Borman, A. D., Sergouniotis, P. I., Henderson, R. H., Moradi, P., Robson, A. G., Thompson, D. A., Webster, A. R., Moore, A. T.
<strong>Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.</strong>
Invest. Ophthal. Vis. Sci. 52: 3032-3038, 2011.
[PubMed: 21310915]
[Full Text: https://doi.org/10.1167/iovs.10-7025]
</p>
</li>
<li>
<p class="mim-text-font">
Matsui, R., McGuigan, D. B., III, Gruzensky, M. L., Aleman, T. S., Schwartz, S. B., Sumaroka, A., Koenekoop, R. K., Cideciyan, A. V., Jacobson, S. G.
<strong>SPATA7: evolving phenotype from cone-rod dystrophy to retinitis pigmentosa.</strong>
Ophthalmic Genet. 37: 333-338, 2016.
[PubMed: 26854980]
[Full Text: https://doi.org/10.3109/13816810.2015.1130154]
</p>
</li>
<li>
<p class="mim-text-font">
Sengillo, J. D., Lee, W., Bilancia, C. G., Jobanputra, V., Tsang, S. H.
<strong>Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.</strong>
Doc. Ophthal. 136: 125-133, 2018.
[PubMed: 29411205]
[Full Text: https://doi.org/10.1007/s10633-018-9626-1]
</p>
</li>
<li>
<p class="mim-text-font">
Stockton, D. W., Lewis, R. A., Abboud, E. B., Al-Rajhi, A., Jabak, M., Anderson, K. L., Lupski, J. R.
<strong>A novel locus for Leber congenital amaurosis on chromosome 14q24.</strong>
Hum. Genet. 103: 328-333, 1998.
[PubMed: 9799089]
[Full Text: https://doi.org/10.1007/s004390050825]
</p>
</li>
<li>
<p class="mim-text-font">
Wang, H., den Hollander, A. I., Moayedi, Y., Abulimiti, A., Li, Y., Collin, R. W. J., Hoyng, C. B., Lopez, I., Abboud, E. B., Al-Rajhi, A. A., Bray, M., Lewis, R. A., Lupski, J. R., Mardon, G., Koenekoop, R. K., Chen, R.
<strong>Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.</strong>
Am. J. Hum. Genet. 84: 380-387, 2009. Note: Erratum: Am. J. Hum. Genet. 86: 293 only, 2010.
[PubMed: 19268277]
[Full Text: https://doi.org/10.1016/j.ajhg.2009.02.005]
</p>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Contributors:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Marla J. F. O&#x27;Neill - updated : 06/28/2022<br>Jane Kelly - updated : 8/16/2011<br>Marla J. F. O&#x27;Neill - updated : 4/6/2010<br>Marla J. F. O&#x27;Neill - updated : 4/13/2009<br>Carol A. Bocchini - updated : 4/3/2009<br>Jane Kelly - updated : 6/5/2008<br>Victor A. McKusick - updated : 9/9/2004
</span>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 10/14/1999
</span>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Edit History:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
alopez : 06/28/2022<br>carol : 05/17/2016<br>carol : 12/21/2011<br>terry : 12/21/2011<br>carol : 8/22/2011<br>terry : 8/16/2011<br>carol : 4/6/2010<br>carol : 3/19/2010<br>wwang : 4/15/2009<br>terry : 4/13/2009<br>carol : 4/3/2009<br>terry : 4/3/2009<br>carol : 4/3/2009<br>carol : 6/5/2008<br>carol : 9/29/2007<br>tkritzer : 9/13/2004<br>tkritzer : 9/10/2004<br>terry : 9/9/2004<br>mgross : 3/18/2004<br>carol : 10/15/1999<br>carol : 10/15/1999
</span>
</div>
</div>
</div>
<div>
<br />
</div>
</div>
</div>
</div>
</div>
<div id="mimFooter">
<div class="container ">
<div class="row">
<br />
<br />
</div>
</div>
<div class="hidden-print mim-footer">
<div class="container">
<div class="row">
<p />
</div>
<div class="row text-center small">
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
<br />
OMIM<sup>&reg;</sup> and Online Mendelian Inheritance in Man<sup>&reg;</sup> are registered trademarks of the Johns Hopkins University.
<br />
Copyright<sup>&reg;</sup> 1966-2025 Johns Hopkins University.
</div>
</div>
</div>
<div class="visible-print-block mim-footer" style="position: relative;">
<div class="container">
<div class="row">
<p />
</div>
<div class="row text-center small">
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
<br />
OMIM<sup>&reg;</sup> and Online Mendelian Inheritance in Man<sup>&reg;</sup> are registered trademarks of the Johns Hopkins University.
<br />
Copyright<sup>&reg;</sup> 1966-2025 Johns Hopkins University.
<br />
Printed: March 14, 2025
</div>
</div>
</div>
</div>
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
<div class="modal-dialog" role="document">
<div class="modal-content">
<div class="modal-header">
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">&times;</span></button>
<h4 class="modal-title" id="mimDonationPopupModalTitle">
OMIM Donation:
</h4>
</div>
<div class="modal-body">
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
Dear OMIM User,
</p>
</div>
</div>
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
To ensure long-term funding for the OMIM project, we have diversified
our revenue stream. We are determined to keep this website freely
accessible. Unfortunately, it is not free to produce. Expert curators
review the literature and organize it to facilitate your work. Over 90%
of the OMIM's operating expenses go to salary support for MD and PhD
science writers and biocurators. Please join your colleagues by making a
donation now and again in the future. Donations are an important
component of our efforts to ensure long-term funding to provide you the
information that you need at your fingertips.
</p>
</div>
</div>
<div class="row">
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
<p>
Thank you in advance for your generous support, <br />
Ada Hamosh, MD, MPH <br />
Scientific Director, OMIM <br />
</p>
</div>
</div>
</div>
<div class="modal-footer">
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
</div>
</div>
</div>
</div>
</div>
</body>
</html>
Reference in a new issue View git blame Copy permalink