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/129600

3112 lines
214 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
- #129600 - ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1
- 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=129600"><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">#129600</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/129600"><strong>Clinical Synopsis</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="#diagnosis">Diagnosis</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</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="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
</li>
<li role="presentation" style="margin-left: 1em">
<a href="#history">History</a>
</li>
<li role="presentation">
<a href="#seeAlso"><strong>See Also</strong></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=(ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT) OR (FBN1)" 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="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=486&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/8293" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=129600[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="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1885" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></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:0111150" 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/129600" 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><a href="https://wormbase.org/resources/disease/DOID:0111150" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></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="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:129600" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</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> 1885<br />
<strong>DO:</strong> 0111150<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>
129600
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1
</span>
</h3>
</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/15/192?start=-3&limit=10&highlight=192">
15q21.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Ectopia lentis, familial
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129600"> 129600 </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">
FBN1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/134797"> 134797 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/129600" 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">
<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/129600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/129600" 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 dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</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">
- Ectopia lentis, isolated (congenital lens dislocation) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3149106&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3149106</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74969002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74969002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q12.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q12.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.37</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001083</a>]</span><br />
</span>
</div>
</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 fibrillin-1 gene (FBN1, <a href="/entry/134797#0015">134797.0015</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" 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 autosomal dominant isolated ectopia lentis-1 (ECTOL1) is caused by heterozygous mutation in the FBN1 gene (<a href="/entry/134797">134797</a>) on chromosome 15q21.</p><p>Mutation in the same gene causes Marfan syndrome (<a href="/entry/154700">154700</a>), of which ectopia lentis is a feature.</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>Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment (<a href="#11" class="mim-tip-reference" title="Greene, V. B., Stoetzel, C., Pelletier, V., Perdomo-Trujillo, Y., Liebermann, L., Marion, V., De Korvin, H., Boileau, C., Dufier, J. L., Dollfus, H. &lt;strong&gt;Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.&lt;/strong&gt; Ophthal. Genet. 31: 47-51, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20141359/&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;20141359&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3109/13816810903567604&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="20141359">Greene et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20141359" 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>Citing the revised Ghent criteria for Marfan syndrome, <a href="#16" class="mim-tip-reference" title="Loeys, B. L., Dietz, H. C., Braverman, A. C., Callewaert, B. L., De Backer, J., Devereux, R. B., Hilhorst-Hofstee, Y., Jondeau, G., Faivre, L., Milewicz, D. M., Pyeritz, R. E., Sponseller, P. D., Wordsworth, P., De Paepe, A. M. &lt;strong&gt;The revised Ghent nosology for the Marfan syndrome.&lt;/strong&gt; J. Med. Genet. 47: 476-485, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20591885/&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;20591885&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2009.072785&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="20591885">Loeys et al. (2010)</a> proposed the designation 'ectopia lentis syndrome' (ELS) for patients with ectopia lentis and a mutation in the FBN1 gene who lack aortic involvement, to highlight the systemic nature of the condition and to emphasize the need for assessment of features outside the ocular system (see DIAGNOSIS). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20591885" 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>Genetic Heterogeneity of Isolated Ectopia Lentis</em></strong></p><p>
An autosomal recessive form of isolated ectopia lentis (ECTOL2; <a href="/entry/225100">225100</a>) is caused by mutation in the ADAMTSL4 gene (<a href="/entry/610113">610113</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="#19" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Heritable Disorders of Connective Tissue. (4th ed.)&lt;/strong&gt; St. Louis: C. V. Mosby (pub.) 1972. Pp. 282-291."None>McKusick (1972)</a> restudied the family reported by <a href="#18" class="mim-tip-reference" title="McGavic, J. S. &lt;strong&gt;Weill-Marchesani syndrome: brachymorphism and ectopia lentis.&lt;/strong&gt; Am. J. Ophthal. 62: 820-823, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5928829/&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;5928829&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0002-9394(66)91904-0&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="5928829">McGavic (1966)</a> as having Weill-Marchesani syndrome (<a href="/entry/608328">608328</a>) and concluded that they probably suffered from an autosomal dominant form of 'simple' ectopia lentis. Eleven members were affected; all members with or without ectopia lentis were short. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5928829" 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="#21" class="mim-tip-reference" title="Stevenson, R. E., Schroer, R. J., Taylor, H. A., Compton, J. D., Livingston, R. E., III. &lt;strong&gt;Dislocated lens, dolichostenomelia, and joint stiffness.&lt;/strong&gt; Proc. Greenwood Genet. Center 1: 16-22, 1982."None>Stevenson et al. (1982)</a> reported 2 families, 1 black and 1 white, in which congenital dislocation of the lenses was associated with joint stiffness and dolichostenomelia but no arachnodactyly or cardiovascular complications typical of Marfan syndrome. In 1 family, 11 persons in 4 generations were affected. By echocardiography, the aortic root measured 3.8 cm in a 55-year-old woman and 4.0 cm in a 52-year-old man, both with ectopia lentis. Molecular genetic studies are necessary in families of this type. Further uncertainty as to whether families with seemingly isolated ectopia lentis represent an entity separate from the Marfan syndrome arose from the findings of <a href="#22" class="mim-tip-reference" title="Tsipouras, P., Del Mastro, R., Sarfarazi, M., Lee, B., Vitale, E., Child, A. H., Godfrey, M., Devereux, R. B., Hewett, D., Steinmann, B., Viljoen, D., Sykes, B. C., Kilpatrick, M., Ramirez, F., the International Marfan Syndrome Collaborative Study. &lt;strong&gt;Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5.&lt;/strong&gt; New Eng. J. Med. 326: 905-909, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1542340/&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;1542340&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJM199204023261401&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="1542340">Tsipouras et al. (1992)</a>: in 2 families, the isolated ectopia lentis was linked to the fibrillin gene (FBN1; <a href="/entry/134797">134797</a>) on chromosome 15, the same gene to which Marfan syndrome is linked. The experience with a variety of phenotypes produced by mutations in different parts of the collagen genes and indeed in many other genes suggests that isolated ectopia lentis could be caused by mutation in the FBN1 gene of a different nature or at a different site than those which cause the full-blown Marfan syndrome. Already a considerable range of phenotypes has been observed with FBN1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1542340" 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="diagnosis" class="mim-anchor"></a>
<h4 href="#mimDiagnosisFold" id="mimDiagnosisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDiagnosisToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<div id="mimDiagnosisFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#16" class="mim-tip-reference" title="Loeys, B. L., Dietz, H. C., Braverman, A. C., Callewaert, B. L., De Backer, J., Devereux, R. B., Hilhorst-Hofstee, Y., Jondeau, G., Faivre, L., Milewicz, D. M., Pyeritz, R. E., Sponseller, P. D., Wordsworth, P., De Paepe, A. M. &lt;strong&gt;The revised Ghent nosology for the Marfan syndrome.&lt;/strong&gt; J. Med. Genet. 47: 476-485, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20591885/&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;20591885&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2009.072785&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="20591885">Loeys et al. (2010)</a> reported the establishment of a revised Ghent nosology for the diagnosis of Marfan syndrome (MFS), which emphasizes the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are considered cardinal clinical features that together prove sufficient for an unequivocal diagnosis of MFS. Noting that patients with familial ectopia lentis typically have some skeletal features of MFS and an FBN1 mutation, the authors proposed the designation 'ectopia lentis syndrome' (ELS) to better highlight the systemic nature of the condition and the need for assessment of features outside the ocular system. <a href="#16" class="mim-tip-reference" title="Loeys, B. L., Dietz, H. C., Braverman, A. C., Callewaert, B. L., De Backer, J., Devereux, R. B., Hilhorst-Hofstee, Y., Jondeau, G., Faivre, L., Milewicz, D. M., Pyeritz, R. E., Sponseller, P. D., Wordsworth, P., De Paepe, A. M. &lt;strong&gt;The revised Ghent nosology for the Marfan syndrome.&lt;/strong&gt; J. Med. Genet. 47: 476-485, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20591885/&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;20591885&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2009.072785&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="20591885">Loeys et al. (2010)</a> stated that the presence of a personal or family history of aortic aneurysm, or the identification of an FBN1 mutation previously associated with aortic aneurysm, would be sufficient to transition a patient's diagnosis to Marfan syndrome. They also suggested that to ensure vigilance of other organ systems, the diagnosis of ectopia lentis syndrome should not be formally invoked before 20 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20591885" 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="#5" class="mim-tip-reference" title="Chandra, A., Patel, D., Aragon-Martin, J. A., Pinard, A., Collod-Beroud, G., Comeglio, P., Boileau, C., Faivre, L., Charteris, D., Child, A. H., Arno, G. &lt;strong&gt;The revised ghent nosology: reclassifying isolated ectopia lentis.&lt;/strong&gt; Clin. Genet. 87: 284-287, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24635535/&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;24635535&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/cge.12358&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="24635535">Chandra et al. (2015)</a> reviewed all published cases of FBN1-associated isolated ectopia lentis and found that 57 (46.3%) of 123 such probands were subsequently reclassified as MFS, and that 37 (38.5%) of 96 mutations reported to cause isolated ectopia lentis had also been found in patients with aortic dilation/dissection. The authors suggested that ectopia lentis caused by mutation in the FBN1 gene is actually part of a spectrum of fibrillinopathies with MFS, and that the term 'isolated ectopia lentis' should be avoided in such cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24635535" 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="inheritance" class="mim-anchor"></a>
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<div id="mimInheritanceFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#10" class="mim-tip-reference" title="Falls, H. F., Cotterman, C. W. &lt;strong&gt;Genetic studies on ectopia lentis: a pedigree of simple ectopia of the lens.&lt;/strong&gt; Arch. Ophthal. 30: 610-620, 1943."None>Falls and Cotterman (1943)</a> described a family with a large number of affected persons in 5 generations, and <a href="#3" class="mim-tip-reference" title="Chace, R. R. &lt;strong&gt;Congenital bilateral subluxation of the lens.&lt;/strong&gt; Arch. Ophthal. 34: 425-426, 1945.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21012374/&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;21012374&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archopht.1945.00890190429016&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="21012374">Chace (1945)</a> observed affected persons in 3 generations. Autosomal dominant inheritance was suggested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21012374" 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="#14" class="mim-tip-reference" title="Jaureguy, B. M., Hall, J. G. &lt;strong&gt;Isolated congenital ectopia lentis with autosomal dominant inheritance.&lt;/strong&gt; Clin. Genet. 15: 97-109, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/310371/&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;310371&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1979.tb02033.x&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="310371">Jaureguy and Hall (1979)</a> reported isolated congenital ectopia lentis in 6 persons in 3 generations of a family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=310371" 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="#8" class="mim-tip-reference" title="Edwards, M. J., Challinor, C. J., Colley, P. W., Roberts, J., Partington, M. W., Hollway, G. E., Kozman, H. M., Mulley, J. C. &lt;strong&gt;Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1.&lt;/strong&gt; Am. J. Med. Genet. 53: 65-71, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7802039/&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;7802039&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320530114&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="7802039">Edwards et al. (1994)</a> described a kindred in which ectopia lentis appeared to occur in the absence of clear indications of Marfan syndrome in other systems. Linkage studies demonstrated linkage to FBN1 on chromosome 15q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7802039" 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><a href="#1" class="mim-tip-reference" title="Ades, L. C., Holman, K. J., Brett, M. S., Edwards, M. J., Bennetts, B. &lt;strong&gt;Ectopia lentis phenotypes and the FBN1 gene.&lt;/strong&gt; Am. J. Med. Genet. 126A: 284-289, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15054843/&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;15054843&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20605&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="15054843">Ades et al. (2004)</a> used denaturing high performance liquid chromatography (DHPLC) to facilitate the characterization of the previously elusive FBN1 mutation in the large autosomal dominant ectopia lentis kindred described by <a href="#8" class="mim-tip-reference" title="Edwards, M. J., Challinor, C. J., Colley, P. W., Roberts, J., Partington, M. W., Hollway, G. E., Kozman, H. M., Mulley, J. C. &lt;strong&gt;Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1.&lt;/strong&gt; Am. J. Med. Genet. 53: 65-71, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7802039/&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;7802039&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320530114&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="7802039">Edwards et al. (1994)</a>. They presented a 9-year update of the clinical status of the family. They found an arg240-to-cys (R240C) mutation in the FBN1 gene (<a href="/entry/134797#0042">134797.0042</a>), which had been reported 3 times before: once in a family with classic Marfan syndrome (<a href="#17" class="mim-tip-reference" title="Loeys, B., Nuytinck, L., Delvaux, I., De Bie, S., De Paepe, A. &lt;strong&gt;Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.&lt;/strong&gt; Arch. Intern. Med. 161: 2447-2454, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11700157/&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;11700157&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archinte.161.20.2447&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="11700157">Loeys et al., 2001</a>), once in 1 member of a multigeneration ectopia lentis kindred (<a href="#15" class="mim-tip-reference" title="Korkko, J., Kaitila, I., Lonnqvist, L., Peltonen, L., Ala-Kokko, L. &lt;strong&gt;Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.&lt;/strong&gt; J. Med. Genet. 39: 34-41, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11826022/&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;11826022&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.39.1.34&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="11826022">Korkko et al., 2002</a>), and once in an adult from a familial ectopia lentis kindred who had ectopia lentis and involvement of the skin, without cardiovascular involvement (<a href="#6" class="mim-tip-reference" title="Comeglio, P., Evans, A. L., Brice, G., Cooling, R. J., Child, A. H. &lt;strong&gt;Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.&lt;/strong&gt; Brit. J. Ophthal. 86: 1359-1362, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12446365/&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;12446365&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.86.12.1359&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="12446365">Comeglio et al., 2002</a>). The report of <a href="#1" class="mim-tip-reference" title="Ades, L. C., Holman, K. J., Brett, M. S., Edwards, M. J., Bennetts, B. &lt;strong&gt;Ectopia lentis phenotypes and the FBN1 gene.&lt;/strong&gt; Am. J. Med. Genet. 126A: 284-289, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15054843/&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;15054843&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20605&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="15054843">Ades et al. (2004)</a> was the second finding of the R240C mutation in association with isolated ectopia lentis, and supported the previous evidence that the R240C mutation can result in 2 quite distinct, yet related, phenotypes. Presumably modification by the genetic background is involved in the phenotypic differences. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11826022+7802039+15054843+11700157+12446365" 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="Comeglio, P., Johnson, P., Arno, G., Brice, G., Evans, A., Aragon-Martin, J., da Silva, F. P., Kiotsekoglou, A., Child, A. &lt;strong&gt;The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. (Abstract)&lt;/strong&gt; Hum. Mutat. 28: 928 only, 2007. Note: Full Article Online.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17657824/&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;17657824&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.9505&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="17657824">Comeglio et al. (2007)</a> analyzed the FBN1 gene in 38 patients with isolated ectopia lentis and identified mutations in 19 (50%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17657824" 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="#9" class="mim-tip-reference" title="Faivre, L., Collod-Beroud, G., Callewaert, B., Child, A., Loeys, B. L., Binquet, C., Gautier, E., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Kiotsekoglou, A., Comeglio, P., and 15 others. &lt;strong&gt;Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.&lt;/strong&gt; Am. J. Med. Genet. 149A: 854-860, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19353630/&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;19353630&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32809&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="19353630">Faivre et al. (2009)</a> analyzed the clinical and molecular characteristics of 146 adult probands with known FBN1 mutations who did not fulfill the Ghent criteria for Marfan syndrome. The authors noted that in the 12 patients with isolated ectopia lentis, missense mutations involving a cysteine were predominant, mutations in exons 24-32 were underrepresented, and no mutations leading to a premature termination were found. They stated that analysis of recurrent mutations and of affected family members of probands with only 1 major clinical criterion argued for a clinical continuum between such phenotypes and classic Marfan syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19353630" 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="Aragon-Martin, J. A., Ahnood, D., Charteris, D. G., Saggar, A., Nischal, K. K., Comeglio, P., Chandra, A., Child, A. H., Amo, G. &lt;strong&gt;Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.&lt;/strong&gt; Hum. Mutat. 31: E1622, 2010. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20564469/&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;20564469&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.21305&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="20564469">Aragon-Martin et al. (2010)</a> analyzed the FBN1 gene in 36 UK patients with ectopia lentis who did not fulfill the Ghent criteria for Marfan syndrome and identified causative mutations in 23 (64%). The authors noted that this represented an improved mutation detection rate over their previous study (<a href="#7" class="mim-tip-reference" title="Comeglio, P., Johnson, P., Arno, G., Brice, G., Evans, A., Aragon-Martin, J., da Silva, F. P., Kiotsekoglou, A., Child, A. &lt;strong&gt;The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. (Abstract)&lt;/strong&gt; Hum. Mutat. 28: 928 only, 2007. Note: Full Article Online.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17657824/&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;17657824&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.9505&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="17657824">Comeglio et al., 2007</a>), due to rescreening of patients who were negative for mutation by SSCA with the more sensitive dHPLC detection method. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20564469+17657824" 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="#24" class="mim-tip-reference" title="Yang, G., Chu, M., Zhai, X., Zhao, J. &lt;strong&gt;A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.&lt;/strong&gt; Molec. Vis. 18: 945-950, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22539873/&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;22539873&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22539873[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;]" pmid="22539873">Yang et al. (2012)</a> studied a 5-generation Chinese family in which 16 members were affected with isolated ectopia lentis and identified a heterozygous missense mutation in the FBN1 gene (R974C; <a href="/entry/134797#0063">134797.0063</a>) that segregated with the disease. <a href="#24" class="mim-tip-reference" title="Yang, G., Chu, M., Zhai, X., Zhao, J. &lt;strong&gt;A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.&lt;/strong&gt; Molec. Vis. 18: 945-950, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22539873/&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;22539873&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22539873[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;]" pmid="22539873">Yang et al. (2012)</a> reviewed published reports and stated that 18 FBN1 mutations associated with isolated ectopia lentis had been found, 3 of which had also been found in association with Marfan syndrome in different families; they also noted that 15 of the mutations were cysteine substitutions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22539873" 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="genotypePhenotypeCorrelations" class="mim-anchor"></a>
<h4 href="#mimGenotypePhenotypeCorrelationsFold" id="mimGenotypePhenotypeCorrelationsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimGenotypePhenotypeCorrelationsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<div id="mimGenotypePhenotypeCorrelationsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#4" class="mim-tip-reference" title="Chandra, A., Aragon-Martin, J. A., Hughes, K., Gati, S., Reddy, M. A., Deshpande, C., Cormack, G., Child, A. H., Charteris, D. G., Arno, G. &lt;strong&gt;A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 53: 4889-4896, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22736615/&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;22736615&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1167/iovs.12-9874&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="22736615">Chandra et al. (2012)</a> studied 16 patients with isolated ectopia lentis and identified homozygous or compound heterozygous mutations in the ADAMTSL4 gene (<a href="/entry/610113">610113</a>) in 8 patients (see, e.g., <a href="/entry/610113#0003">610113.0003</a>) and heterozygous mutations in the FBN1 gene in 4 patients. No mutations were identified in the remaining 4 patients. The median age of diagnosis of ectopia lentis was 35 years in patients with FBN1 mutations versus 2 years in patients with ADAMTSL4 mutations (p less than 0.01). Mean axial length was 22.74 mm in FBN1 patients compared to 27.54 mm in ADAMTSL4 patients (p less than 0.01). Other ophthalmic features, including corneal thickness and power, foveal thickness, visual acuity, and direction of lens displacement, were similar for both groups. <a href="#4" class="mim-tip-reference" title="Chandra, A., Aragon-Martin, J. A., Hughes, K., Gati, S., Reddy, M. A., Deshpande, C., Cormack, G., Child, A. H., Charteris, D. G., Arno, G. &lt;strong&gt;A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.&lt;/strong&gt; Invest. Ophthal. Vis. Sci. 53: 4889-4896, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22736615/&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;22736615&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1167/iovs.12-9874&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="22736615">Chandra et al. (2012)</a> concluded that ADAMTSL4 mutations appear to cause earlier manifestation of ectopia lentis and are associated with increased axial length compared to mutations in FBN1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22736615" 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="history" class="mim-anchor"></a>
<h4 href="#mimHistoryFold" id="mimHistoryToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimHistoryToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<div id="mimHistoryFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#13" class="mim-tip-reference" title="Horner, J. F. &lt;strong&gt;Die Erblichkeit des Daltonismus. In, Amtlicher Bericht ueber die Verwaltung des Medizinalwesens des Kantons Zurich vom Jahr 1876.&lt;/strong&gt; Zurich: Druck der Genossenschaftsbuchdruckerei 1876. Pp. 208-211."None>Horner (1876)</a> reported persons with ectopia lentis in 3 generations, and <a href="#23" class="mim-tip-reference" title="Usher, C. H. &lt;strong&gt;A pedigree of congenital dislocation of lenses.&lt;/strong&gt; Biometrika 16: 273-282, 1924."None>Usher (1924)</a> reported 7 affected persons in 3 successive generations. In these early reports one cannot be certain that Marfan syndrome was not present.</p>
</span>
<div>
<br />
</div>
</div>
</div>
<div>
<a id="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>See Also:</strong>
</span>
</h4>
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<a href="#Harshman1948" class="mim-tip-reference" title="Harshman, J. P. &lt;strong&gt;Glaucoma associated with subluxation of the lens in several members of family.&lt;/strong&gt; Am. J. Ophthal. 31: 833-836, 1948.">Harshman (1948)</a>; <a href="#Meyer1954" class="mim-tip-reference" title="Meyer, E. T. &lt;strong&gt;Familial ectopia lentis and its complications.&lt;/strong&gt; Brit. J. Ophthal. 38: 163-172, 1954.">Meyer (1954)</a>
</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="Ades2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ades, L. C., Holman, K. J., Brett, M. S., Edwards, M. J., Bennetts, B.
<strong>Ectopia lentis phenotypes and the FBN1 gene.</strong>
Am. J. Med. Genet. 126A: 284-289, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054843/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054843</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15054843" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.20605" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Aragon-Martin2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Aragon-Martin, J. A., Ahnood, D., Charteris, D. G., Saggar, A., Nischal, K. K., Comeglio, P., Chandra, A., Child, A. H., Amo, G.
<strong>Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.</strong>
Hum. Mutat. 31: E1622, 2010. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20564469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20564469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20564469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.21305" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Chace1945" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chace, R. R.
<strong>Congenital bilateral subluxation of the lens.</strong>
Arch. Ophthal. 34: 425-426, 1945.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21012374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21012374</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21012374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archopht.1945.00890190429016" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Chandra2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chandra, A., Aragon-Martin, J. A., Hughes, K., Gati, S., Reddy, M. A., Deshpande, C., Cormack, G., Child, A. H., Charteris, D. G., Arno, G.
<strong>A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.</strong>
Invest. Ophthal. Vis. Sci. 53: 4889-4896, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22736615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22736615</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22736615" 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.12-9874" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Chandra2015" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chandra, A., Patel, D., Aragon-Martin, J. A., Pinard, A., Collod-Beroud, G., Comeglio, P., Boileau, C., Faivre, L., Charteris, D., Child, A. H., Arno, G.
<strong>The revised ghent nosology: reclassifying isolated ectopia lentis.</strong>
Clin. Genet. 87: 284-287, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24635535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24635535</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24635535" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/cge.12358" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Comeglio2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Comeglio, P., Evans, A. L., Brice, G., Cooling, R. J., Child, A. H.
<strong>Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.</strong>
Brit. J. Ophthal. 86: 1359-1362, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12446365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12446365</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12446365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/bjo.86.12.1359" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Comeglio2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Comeglio, P., Johnson, P., Arno, G., Brice, G., Evans, A., Aragon-Martin, J., da Silva, F. P., Kiotsekoglou, A., Child, A.
<strong>The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. (Abstract)</strong>
Hum. Mutat. 28: 928 only, 2007. Note: Full Article Online.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17657824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17657824</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17657824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.9505" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Edwards1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Edwards, M. J., Challinor, C. J., Colley, P. W., Roberts, J., Partington, M. W., Hollway, G. E., Kozman, H. M., Mulley, J. C.
<strong>Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1.</strong>
Am. J. Med. Genet. 53: 65-71, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7802039/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7802039</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7802039" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320530114" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Faivre2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Faivre, L., Collod-Beroud, G., Callewaert, B., Child, A., Loeys, B. L., Binquet, C., Gautier, E., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Kiotsekoglou, A., Comeglio, P., and 15 others.
<strong>Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.</strong>
Am. J. Med. Genet. 149A: 854-860, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19353630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19353630</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19353630" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.32809" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Falls1943" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Falls, H. F., Cotterman, C. W.
<strong>Genetic studies on ectopia lentis: a pedigree of simple ectopia of the lens.</strong>
Arch. Ophthal. 30: 610-620, 1943.
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Greene2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Greene, V. B., Stoetzel, C., Pelletier, V., Perdomo-Trujillo, Y., Liebermann, L., Marion, V., De Korvin, H., Boileau, C., Dufier, J. L., Dollfus, H.
<strong>Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.</strong>
Ophthal. Genet. 31: 47-51, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20141359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20141359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20141359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.3109/13816810903567604" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Harshman1948" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Harshman, J. P.
<strong>Glaucoma associated with subluxation of the lens in several members of family.</strong>
Am. J. Ophthal. 31: 833-836, 1948.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18872477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18872477</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18872477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9394(48)91543-8" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Horner1876" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Horner, J. F.
<strong>Die Erblichkeit des Daltonismus. In, Amtlicher Bericht ueber die Verwaltung des Medizinalwesens des Kantons Zurich vom Jahr 1876.</strong>
Zurich: Druck der Genossenschaftsbuchdruckerei 1876. Pp. 208-211.
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Jaureguy1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jaureguy, B. M., Hall, J. G.
<strong>Isolated congenital ectopia lentis with autosomal dominant inheritance.</strong>
Clin. Genet. 15: 97-109, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/310371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">310371</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=310371" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1979.tb02033.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Korkko2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Korkko, J., Kaitila, I., Lonnqvist, L., Peltonen, L., Ala-Kokko, L.
<strong>Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.</strong>
J. Med. Genet. 39: 34-41, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11826022/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11826022</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11826022" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.39.1.34" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Loeys2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Loeys, B. L., Dietz, H. C., Braverman, A. C., Callewaert, B. L., De Backer, J., Devereux, R. B., Hilhorst-Hofstee, Y., Jondeau, G., Faivre, L., Milewicz, D. M., Pyeritz, R. E., Sponseller, P. D., Wordsworth, P., De Paepe, A. M.
<strong>The revised Ghent nosology for the Marfan syndrome.</strong>
J. Med. Genet. 47: 476-485, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20591885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20591885</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20591885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.2009.072785" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Loeys2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Loeys, B., Nuytinck, L., Delvaux, I., De Bie, S., De Paepe, A.
<strong>Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.</strong>
Arch. Intern. Med. 161: 2447-2454, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11700157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11700157</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11700157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archinte.161.20.2447" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="McGavic1966" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McGavic, J. S.
<strong>Weill-Marchesani syndrome: brachymorphism and ectopia lentis.</strong>
Am. J. Ophthal. 62: 820-823, 1966.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5928829/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5928829</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5928829" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9394(66)91904-0" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="McKusick1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McKusick, V. A.
<strong>Heritable Disorders of Connective Tissue. (4th ed.)</strong>
St. Louis: C. V. Mosby (pub.) 1972. Pp. 282-291.
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Meyer1954" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Meyer, E. T.
<strong>Familial ectopia lentis and its complications.</strong>
Brit. J. Ophthal. 38: 163-172, 1954.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13149756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13149756</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13149756" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/bjo.38.3.163" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Stevenson1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Stevenson, R. E., Schroer, R. J., Taylor, H. A., Compton, J. D., Livingston, R. E., III.
<strong>Dislocated lens, dolichostenomelia, and joint stiffness.</strong>
Proc. Greenwood Genet. Center 1: 16-22, 1982.
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Tsipouras1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tsipouras, P., Del Mastro, R., Sarfarazi, M., Lee, B., Vitale, E., Child, A. H., Godfrey, M., Devereux, R. B., Hewett, D., Steinmann, B., Viljoen, D., Sykes, B. C., Kilpatrick, M., Ramirez, F., the International Marfan Syndrome Collaborative Study.
<strong>Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5.</strong>
New Eng. J. Med. 326: 905-909, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1542340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1542340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1542340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJM199204023261401" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Usher1924" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Usher, C. H.
<strong>A pedigree of congenital dislocation of lenses.</strong>
Biometrika 16: 273-282, 1924.
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Yang2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yang, G., Chu, M., Zhai, X., Zhao, J.
<strong>A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.</strong>
Molec. Vis. 18: 945-950, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22539873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22539873</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22539873[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=22539873" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</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 : 6/5/2015
</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">
Marla J. F. O'Neill - updated : 1/25/2013<br>Marla J. F. O'Neill - updated : 10/30/2009<br>Marla J. F. O'Neill - updated : 3/26/2009<br>Victor A. McKusick - updated : 4/14/2004<br>Beat Steinmann - updated : 8/28/1996
</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 : 6/4/1986
</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">
carol : 02/22/2017
</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 : 07/09/2016<br>alopez : 6/8/2015<br>mcolton : 6/5/2015<br>carol : 9/6/2013<br>carol : 1/25/2013<br>joanna : 8/16/2012<br>carol : 5/5/2010<br>carol : 11/5/2009<br>terry : 10/30/2009<br>wwang : 9/14/2009<br>wwang : 4/28/2009<br>terry : 3/26/2009<br>alopez : 5/25/2004<br>alopez : 4/19/2004<br>alopez : 4/19/2004<br>terry : 4/14/2004<br>carol : 3/18/2004<br>carol : 8/30/1996<br>carol : 8/29/1996<br>carol : 11/28/1994<br>mimadm : 9/24/1994<br>warfield : 4/8/1994<br>carol : 2/15/1993<br>carol : 5/6/1992<br>supermim : 3/16/1992
</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> 129600
</span>
</h3>
</div>
<div>
<h3>
<span class="mim-font">
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1
</span>
</h3>
</div>
<div>
<br />
</div>
</div>
<div>
<p>
<span class="mim-text-font">
<strong>ORPHA:</strong> 1885; &nbsp;
<strong>DO:</strong> 0111150; &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">
15q21.1
</span>
</td>
<td>
<span class="mim-font">
Ectopia lentis, familial
</span>
</td>
<td>
<span class="mim-font">
129600
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
FBN1
</span>
</td>
<td>
<span class="mim-font">
134797
</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 autosomal dominant isolated ectopia lentis-1 (ECTOL1) is caused by heterozygous mutation in the FBN1 gene (134797) on chromosome 15q21.</p><p>Mutation in the same gene causes Marfan syndrome (154700), of which ectopia lentis is a feature.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment (Greene et al., 2010). </p><p>Citing the revised Ghent criteria for Marfan syndrome, Loeys et al. (2010) proposed the designation 'ectopia lentis syndrome' (ELS) for patients with ectopia lentis and a mutation in the FBN1 gene who lack aortic involvement, to highlight the systemic nature of the condition and to emphasize the need for assessment of features outside the ocular system (see DIAGNOSIS). </p><p><strong><em>Genetic Heterogeneity of Isolated Ectopia Lentis</em></strong></p><p>
An autosomal recessive form of isolated ectopia lentis (ECTOL2; 225100) is caused by mutation in the ADAMTSL4 gene (610113).</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>McKusick (1972) restudied the family reported by McGavic (1966) as having Weill-Marchesani syndrome (608328) and concluded that they probably suffered from an autosomal dominant form of 'simple' ectopia lentis. Eleven members were affected; all members with or without ectopia lentis were short. </p><p>Stevenson et al. (1982) reported 2 families, 1 black and 1 white, in which congenital dislocation of the lenses was associated with joint stiffness and dolichostenomelia but no arachnodactyly or cardiovascular complications typical of Marfan syndrome. In 1 family, 11 persons in 4 generations were affected. By echocardiography, the aortic root measured 3.8 cm in a 55-year-old woman and 4.0 cm in a 52-year-old man, both with ectopia lentis. Molecular genetic studies are necessary in families of this type. Further uncertainty as to whether families with seemingly isolated ectopia lentis represent an entity separate from the Marfan syndrome arose from the findings of Tsipouras et al. (1992): in 2 families, the isolated ectopia lentis was linked to the fibrillin gene (FBN1; 134797) on chromosome 15, the same gene to which Marfan syndrome is linked. The experience with a variety of phenotypes produced by mutations in different parts of the collagen genes and indeed in many other genes suggests that isolated ectopia lentis could be caused by mutation in the FBN1 gene of a different nature or at a different site than those which cause the full-blown Marfan syndrome. Already a considerable range of phenotypes has been observed with FBN1 mutations. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Loeys et al. (2010) reported the establishment of a revised Ghent nosology for the diagnosis of Marfan syndrome (MFS), which emphasizes the cardiovascular manifestations and in which aortic root aneurysm and ectopia lentis are considered cardinal clinical features that together prove sufficient for an unequivocal diagnosis of MFS. Noting that patients with familial ectopia lentis typically have some skeletal features of MFS and an FBN1 mutation, the authors proposed the designation 'ectopia lentis syndrome' (ELS) to better highlight the systemic nature of the condition and the need for assessment of features outside the ocular system. Loeys et al. (2010) stated that the presence of a personal or family history of aortic aneurysm, or the identification of an FBN1 mutation previously associated with aortic aneurysm, would be sufficient to transition a patient's diagnosis to Marfan syndrome. They also suggested that to ensure vigilance of other organ systems, the diagnosis of ectopia lentis syndrome should not be formally invoked before 20 years of age. </p><p>Chandra et al. (2015) reviewed all published cases of FBN1-associated isolated ectopia lentis and found that 57 (46.3%) of 123 such probands were subsequently reclassified as MFS, and that 37 (38.5%) of 96 mutations reported to cause isolated ectopia lentis had also been found in patients with aortic dilation/dissection. The authors suggested that ectopia lentis caused by mutation in the FBN1 gene is actually part of a spectrum of fibrillinopathies with MFS, and that the term 'isolated ectopia lentis' should be avoided in such cases. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Falls and Cotterman (1943) described a family with a large number of affected persons in 5 generations, and Chace (1945) observed affected persons in 3 generations. Autosomal dominant inheritance was suggested. </p><p>Jaureguy and Hall (1979) reported isolated congenital ectopia lentis in 6 persons in 3 generations of a family. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Edwards et al. (1994) described a kindred in which ectopia lentis appeared to occur in the absence of clear indications of Marfan syndrome in other systems. Linkage studies demonstrated linkage to FBN1 on chromosome 15q21. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Ades et al. (2004) used denaturing high performance liquid chromatography (DHPLC) to facilitate the characterization of the previously elusive FBN1 mutation in the large autosomal dominant ectopia lentis kindred described by Edwards et al. (1994). They presented a 9-year update of the clinical status of the family. They found an arg240-to-cys (R240C) mutation in the FBN1 gene (134797.0042), which had been reported 3 times before: once in a family with classic Marfan syndrome (Loeys et al., 2001), once in 1 member of a multigeneration ectopia lentis kindred (Korkko et al., 2002), and once in an adult from a familial ectopia lentis kindred who had ectopia lentis and involvement of the skin, without cardiovascular involvement (Comeglio et al., 2002). The report of Ades et al. (2004) was the second finding of the R240C mutation in association with isolated ectopia lentis, and supported the previous evidence that the R240C mutation can result in 2 quite distinct, yet related, phenotypes. Presumably modification by the genetic background is involved in the phenotypic differences. </p><p>Comeglio et al. (2007) analyzed the FBN1 gene in 38 patients with isolated ectopia lentis and identified mutations in 19 (50%). </p><p>Faivre et al. (2009) analyzed the clinical and molecular characteristics of 146 adult probands with known FBN1 mutations who did not fulfill the Ghent criteria for Marfan syndrome. The authors noted that in the 12 patients with isolated ectopia lentis, missense mutations involving a cysteine were predominant, mutations in exons 24-32 were underrepresented, and no mutations leading to a premature termination were found. They stated that analysis of recurrent mutations and of affected family members of probands with only 1 major clinical criterion argued for a clinical continuum between such phenotypes and classic Marfan syndrome. </p><p>Aragon-Martin et al. (2010) analyzed the FBN1 gene in 36 UK patients with ectopia lentis who did not fulfill the Ghent criteria for Marfan syndrome and identified causative mutations in 23 (64%). The authors noted that this represented an improved mutation detection rate over their previous study (Comeglio et al., 2007), due to rescreening of patients who were negative for mutation by SSCA with the more sensitive dHPLC detection method. </p><p>Yang et al. (2012) studied a 5-generation Chinese family in which 16 members were affected with isolated ectopia lentis and identified a heterozygous missense mutation in the FBN1 gene (R974C; 134797.0063) that segregated with the disease. Yang et al. (2012) reviewed published reports and stated that 18 FBN1 mutations associated with isolated ectopia lentis had been found, 3 of which had also been found in association with Marfan syndrome in different families; they also noted that 15 of the mutations were cysteine substitutions. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Chandra et al. (2012) studied 16 patients with isolated ectopia lentis and identified homozygous or compound heterozygous mutations in the ADAMTSL4 gene (610113) in 8 patients (see, e.g., 610113.0003) and heterozygous mutations in the FBN1 gene in 4 patients. No mutations were identified in the remaining 4 patients. The median age of diagnosis of ectopia lentis was 35 years in patients with FBN1 mutations versus 2 years in patients with ADAMTSL4 mutations (p less than 0.01). Mean axial length was 22.74 mm in FBN1 patients compared to 27.54 mm in ADAMTSL4 patients (p less than 0.01). Other ophthalmic features, including corneal thickness and power, foveal thickness, visual acuity, and direction of lens displacement, were similar for both groups. Chandra et al. (2012) concluded that ADAMTSL4 mutations appear to cause earlier manifestation of ectopia lentis and are associated with increased axial length compared to mutations in FBN1. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Horner (1876) reported persons with ectopia lentis in 3 generations, and Usher (1924) reported 7 affected persons in 3 successive generations. In these early reports one cannot be certain that Marfan syndrome was not present.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Harshman (1948); Meyer (1954)
</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">
Ades, L. C., Holman, K. J., Brett, M. S., Edwards, M. J., Bennetts, B.
<strong>Ectopia lentis phenotypes and the FBN1 gene.</strong>
Am. J. Med. Genet. 126A: 284-289, 2004.
[PubMed: 15054843]
[Full Text: https://doi.org/10.1002/ajmg.a.20605]
</p>
</li>
<li>
<p class="mim-text-font">
Aragon-Martin, J. A., Ahnood, D., Charteris, D. G., Saggar, A., Nischal, K. K., Comeglio, P., Chandra, A., Child, A. H., Amo, G.
<strong>Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.</strong>
Hum. Mutat. 31: E1622, 2010. Note: Electronic Article.
[PubMed: 20564469]
[Full Text: https://doi.org/10.1002/humu.21305]
</p>
</li>
<li>
<p class="mim-text-font">
Chace, R. R.
<strong>Congenital bilateral subluxation of the lens.</strong>
Arch. Ophthal. 34: 425-426, 1945.
[PubMed: 21012374]
[Full Text: https://doi.org/10.1001/archopht.1945.00890190429016]
</p>
</li>
<li>
<p class="mim-text-font">
Chandra, A., Aragon-Martin, J. A., Hughes, K., Gati, S., Reddy, M. A., Deshpande, C., Cormack, G., Child, A. H., Charteris, D. G., Arno, G.
<strong>A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.</strong>
Invest. Ophthal. Vis. Sci. 53: 4889-4896, 2012.
[PubMed: 22736615]
[Full Text: https://doi.org/10.1167/iovs.12-9874]
</p>
</li>
<li>
<p class="mim-text-font">
Chandra, A., Patel, D., Aragon-Martin, J. A., Pinard, A., Collod-Beroud, G., Comeglio, P., Boileau, C., Faivre, L., Charteris, D., Child, A. H., Arno, G.
<strong>The revised ghent nosology: reclassifying isolated ectopia lentis.</strong>
Clin. Genet. 87: 284-287, 2015.
[PubMed: 24635535]
[Full Text: https://doi.org/10.1111/cge.12358]
</p>
</li>
<li>
<p class="mim-text-font">
Comeglio, P., Evans, A. L., Brice, G., Cooling, R. J., Child, A. H.
<strong>Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus.</strong>
Brit. J. Ophthal. 86: 1359-1362, 2002.
[PubMed: 12446365]
[Full Text: https://doi.org/10.1136/bjo.86.12.1359]
</p>
</li>
<li>
<p class="mim-text-font">
Comeglio, P., Johnson, P., Arno, G., Brice, G., Evans, A., Aragon-Martin, J., da Silva, F. P., Kiotsekoglou, A., Child, A.
<strong>The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. (Abstract)</strong>
Hum. Mutat. 28: 928 only, 2007. Note: Full Article Online.
[PubMed: 17657824]
[Full Text: https://doi.org/10.1002/humu.9505]
</p>
</li>
<li>
<p class="mim-text-font">
Edwards, M. J., Challinor, C. J., Colley, P. W., Roberts, J., Partington, M. W., Hollway, G. E., Kozman, H. M., Mulley, J. C.
<strong>Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1.</strong>
Am. J. Med. Genet. 53: 65-71, 1994.
[PubMed: 7802039]
[Full Text: https://doi.org/10.1002/ajmg.1320530114]
</p>
</li>
<li>
<p class="mim-text-font">
Faivre, L., Collod-Beroud, G., Callewaert, B., Child, A., Loeys, B. L., Binquet, C., Gautier, E., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Kiotsekoglou, A., Comeglio, P., and 15 others.
<strong>Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion.</strong>
Am. J. Med. Genet. 149A: 854-860, 2009.
[PubMed: 19353630]
[Full Text: https://doi.org/10.1002/ajmg.a.32809]
</p>
</li>
<li>
<p class="mim-text-font">
Falls, H. F., Cotterman, C. W.
<strong>Genetic studies on ectopia lentis: a pedigree of simple ectopia of the lens.</strong>
Arch. Ophthal. 30: 610-620, 1943.
</p>
</li>
<li>
<p class="mim-text-font">
Greene, V. B., Stoetzel, C., Pelletier, V., Perdomo-Trujillo, Y., Liebermann, L., Marion, V., De Korvin, H., Boileau, C., Dufier, J. L., Dollfus, H.
<strong>Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis.</strong>
Ophthal. Genet. 31: 47-51, 2010.
[PubMed: 20141359]
[Full Text: https://doi.org/10.3109/13816810903567604]
</p>
</li>
<li>
<p class="mim-text-font">
Harshman, J. P.
<strong>Glaucoma associated with subluxation of the lens in several members of family.</strong>
Am. J. Ophthal. 31: 833-836, 1948.
[PubMed: 18872477]
[Full Text: https://doi.org/10.1016/0002-9394(48)91543-8]
</p>
</li>
<li>
<p class="mim-text-font">
Horner, J. F.
<strong>Die Erblichkeit des Daltonismus. In, Amtlicher Bericht ueber die Verwaltung des Medizinalwesens des Kantons Zurich vom Jahr 1876.</strong>
Zurich: Druck der Genossenschaftsbuchdruckerei 1876. Pp. 208-211.
</p>
</li>
<li>
<p class="mim-text-font">
Jaureguy, B. M., Hall, J. G.
<strong>Isolated congenital ectopia lentis with autosomal dominant inheritance.</strong>
Clin. Genet. 15: 97-109, 1979.
[PubMed: 310371]
[Full Text: https://doi.org/10.1111/j.1399-0004.1979.tb02033.x]
</p>
</li>
<li>
<p class="mim-text-font">
Korkko, J., Kaitila, I., Lonnqvist, L., Peltonen, L., Ala-Kokko, L.
<strong>Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.</strong>
J. Med. Genet. 39: 34-41, 2002.
[PubMed: 11826022]
[Full Text: https://doi.org/10.1136/jmg.39.1.34]
</p>
</li>
<li>
<p class="mim-text-font">
Loeys, B. L., Dietz, H. C., Braverman, A. C., Callewaert, B. L., De Backer, J., Devereux, R. B., Hilhorst-Hofstee, Y., Jondeau, G., Faivre, L., Milewicz, D. M., Pyeritz, R. E., Sponseller, P. D., Wordsworth, P., De Paepe, A. M.
<strong>The revised Ghent nosology for the Marfan syndrome.</strong>
J. Med. Genet. 47: 476-485, 2010.
[PubMed: 20591885]
[Full Text: https://doi.org/10.1136/jmg.2009.072785]
</p>
</li>
<li>
<p class="mim-text-font">
Loeys, B., Nuytinck, L., Delvaux, I., De Bie, S., De Paepe, A.
<strong>Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.</strong>
Arch. Intern. Med. 161: 2447-2454, 2001.
[PubMed: 11700157]
[Full Text: https://doi.org/10.1001/archinte.161.20.2447]
</p>
</li>
<li>
<p class="mim-text-font">
McGavic, J. S.
<strong>Weill-Marchesani syndrome: brachymorphism and ectopia lentis.</strong>
Am. J. Ophthal. 62: 820-823, 1966.
[PubMed: 5928829]
[Full Text: https://doi.org/10.1016/0002-9394(66)91904-0]
</p>
</li>
<li>
<p class="mim-text-font">
McKusick, V. A.
<strong>Heritable Disorders of Connective Tissue. (4th ed.)</strong>
St. Louis: C. V. Mosby (pub.) 1972. Pp. 282-291.
</p>
</li>
<li>
<p class="mim-text-font">
Meyer, E. T.
<strong>Familial ectopia lentis and its complications.</strong>
Brit. J. Ophthal. 38: 163-172, 1954.
[PubMed: 13149756]
[Full Text: https://doi.org/10.1136/bjo.38.3.163]
</p>
</li>
<li>
<p class="mim-text-font">
Stevenson, R. E., Schroer, R. J., Taylor, H. A., Compton, J. D., Livingston, R. E., III.
<strong>Dislocated lens, dolichostenomelia, and joint stiffness.</strong>
Proc. Greenwood Genet. Center 1: 16-22, 1982.
</p>
</li>
<li>
<p class="mim-text-font">
Tsipouras, P., Del Mastro, R., Sarfarazi, M., Lee, B., Vitale, E., Child, A. H., Godfrey, M., Devereux, R. B., Hewett, D., Steinmann, B., Viljoen, D., Sykes, B. C., Kilpatrick, M., Ramirez, F., the International Marfan Syndrome Collaborative Study.
<strong>Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5.</strong>
New Eng. J. Med. 326: 905-909, 1992.
[PubMed: 1542340]
[Full Text: https://doi.org/10.1056/NEJM199204023261401]
</p>
</li>
<li>
<p class="mim-text-font">
Usher, C. H.
<strong>A pedigree of congenital dislocation of lenses.</strong>
Biometrika 16: 273-282, 1924.
</p>
</li>
<li>
<p class="mim-text-font">
Yang, G., Chu, M., Zhai, X., Zhao, J.
<strong>A novel FBN1 mutation in a Chinese family with isolated ectopia lentis.</strong>
Molec. Vis. 18: 945-950, 2012.
[PubMed: 22539873]
</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 : 6/5/2015<br>Marla J. F. O&#x27;Neill - updated : 1/25/2013<br>Marla J. F. O&#x27;Neill - updated : 10/30/2009<br>Marla J. F. O&#x27;Neill - updated : 3/26/2009<br>Victor A. McKusick - updated : 4/14/2004<br>Beat Steinmann - updated : 8/28/1996
</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 : 6/4/1986
</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">
carol : 02/22/2017<br>carol : 07/09/2016<br>alopez : 6/8/2015<br>mcolton : 6/5/2015<br>carol : 9/6/2013<br>carol : 1/25/2013<br>joanna : 8/16/2012<br>carol : 5/5/2010<br>carol : 11/5/2009<br>terry : 10/30/2009<br>wwang : 9/14/2009<br>wwang : 4/28/2009<br>terry : 3/26/2009<br>alopez : 5/25/2004<br>alopez : 4/19/2004<br>alopez : 4/19/2004<br>terry : 4/14/2004<br>carol : 3/18/2004<br>carol : 8/30/1996<br>carol : 8/29/1996<br>carol : 11/28/1994<br>mimadm : 9/24/1994<br>warfield : 4/8/1994<br>carol : 2/15/1993<br>carol : 5/6/1992<br>supermim : 3/16/1992
</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