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<meta name="keywords" content="C3151061, disease or syndrome, retinitis pigmentosa 47, retinitis pigmentosa caused by mutation in sag, retinitis pigmentosa type 47, rp47, sag, sag retinitis pigmentosa, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Retinitis pigmentosa-47 (RP47) is characterized by relatively late-onset visual decline, although most patients experience night blindness in childhood. A characteristic golden sheen, considered to be pathognomonic for Oguchi disease (258100), may be observed in the periphery on ultra-widefield fundus images (Nishiguchi et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=462411
|
||
ConceptID=C3151061
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Retinitis pigmentosa 47<span class="h1sub">(RP47)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462411</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3151061</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>RP47</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="SAG - ID: 6295 - NCBI Gene" href="/gene/6295" class="medgenPMinfo">SAG</a> (2q37.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013407" target="_blank">MONDO:0013407</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613758" target="_blank">613758</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Retinitis pigmentosa-47 (RP47) is characterized by relatively late-onset visual decline, although most patients experience night blindness in childhood. A characteristic golden sheen, considered to be pathognomonic for Oguchi disease (258100), may be observed in the periphery on ultra-widefield fundus images (Nishiguchi et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_10349"><div><strong>Night blindness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10349</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0028077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to see well at night or in poor light.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10349">Feature record</a> | <a href="/medgen?term=%22Night%20blindness%22%5BClinical%20Features%5D%20OR%2010349%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326793"><div><strong>Decreased light- and dark-adapted electroretinogram amplitude</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326793</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839025</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased amplitude of eletrical response upon electroretinography.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326793">Feature record</a> | <a href="/medgen?term=%22Decreased%20light-%20and%20dark-adapted%20electroretinogram%20amplitude%22%5BClinical%20Features%5D%20OR%20326793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_777085"><div><strong>Visual impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777085</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3665347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/777085">Feature record</a> | <a href="/medgen?term=%22Visual%20impairment%22%5BClinical%20Features%5D%20OR%20777085%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_884881"><div><strong>Chorioretinal atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>884881</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4048273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy of the choroid and retinal layers of the fundus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/884881">Feature record</a> | <a href="/medgen?term=%22Chorioretinal%20atrophy%22%5BClinical%20Features%5D%20OR%20884881%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1632921"><div><strong>Rod-cone dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632921</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551714</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632921">Feature record</a> | <a href="/medgen?term=%22Rod-cone%20dystrophy%22%5BClinical%20Features%5D%20OR%201632921%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1643295"><div><strong>Pigmentary retinopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1643295</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551715</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1643295">Feature record</a> | <a href="/medgen?term=%22Pigmentary%20retinopathy%22%5BClinical%20Features%5D%20OR%201643295%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_884881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chorioretinal atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased light- and dark-adapted electroretinogram amplitude</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Night blindness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1643295" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pigmentary retinopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1632921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rod-cone dystrophy</a></span></li><li class="TLline">
|
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_777085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visual impairment</a></span></li></ul></li></ul></div></div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0035334[DISCUI]&test_type=Clinical" ref="ncbi_uid=20551">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0035334[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=20551">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=20551" target="_blank" href="/omim/268000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=20551">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=20551" ref="ncbi_uid=20551">V</a></span></span><span class="TLline"><a href="/medgen/20551" ref="tree=GTR&ncbi_uid=20551&link_uid=20551" title="View MedGen record for 'Retinitis pigmentosa'">Retinitis pigmentosa</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1843816[DISCUI]&test_type=Clinical" ref="ncbi_uid=334499">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334499" target="_blank" href="/omim/180090">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334499" ref="ncbi_uid=334499">V</a></span></span><span class="TLline"><a href="/medgen/334499" ref="tree=GTR&ncbi_uid=334499&link_uid=334499" title="View MedGen record for 'Bothnia retinal dystrophy'">Bothnia retinal dystrophy</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751763[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=416624">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=416624" target="_blank" href="/omim/604392">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=416624" ref="ncbi_uid=416624">V</a></span></span><span class="TLline"><a href="/medgen/416624" ref="tree=GTR&ncbi_uid=416624&link_uid=416624" title="View MedGen record for 'Juvenile retinitis pigmentosa, AIPL1-related'">Juvenile retinitis pigmentosa, AIPL1-related</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858677[DISCUI]&test_type=Clinical" ref="ncbi_uid=346964">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346964" target="_blank" href="/omim/604232">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK531510/" ref="ncbi_uid=346964">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=346964" ref="ncbi_uid=346964">V</a></span></span><span class="TLline"><a href="/medgen/346964" ref="tree=GTR&ncbi_uid=346964&link_uid=346964" title="View MedGen record for 'Leber congenital amaurosis 3'">Leber congenital amaurosis 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675186[DISCUI]&test_type=Clinical" ref="ncbi_uid=382544">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382544" target="_blank" href="/omim/608830">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1417%20OR%20NBK531510)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=382544">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382544" ref="ncbi_uid=382544">V</a></span></span><span class="TLline"><a href="/medgen/382544" ref="tree=GTR&ncbi_uid=382544&link_uid=382544" title="View MedGen record for 'Leber congenital amaurosis 13'">Leber congenital amaurosis 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN043634[DISCUI]&test_type=Clinical" ref="ncbi_uid=433159">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1173/" ref="ncbi_uid=433159">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=433159" ref="ncbi_uid=433159">V</a></span></span><span class="TLline"><a href="/medgen/433159" ref="tree=GTR&ncbi_uid=433159&link_uid=433159" title="View MedGen record for 'Mitochondrial DNA-Associated Leigh Syndrome and NARP'">Mitochondrial DNA-Associated Leigh Syndrome and NARP</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0220701[DISCUI]&test_type=Clinical" ref="ncbi_uid=67395">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=67395" target="_blank" href="/omim/180100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=67395">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=67395" ref="ncbi_uid=67395">V</a></span></span><span class="TLline"><a href="/medgen/67395" ref="tree=GTR&ncbi_uid=67395&link_uid=67395" title="View MedGen record for 'Retinitis pigmentosa 1'">Retinitis pigmentosa 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2681923[DISCUI]&test_type=Clinical" ref="ncbi_uid=394544">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=394544" target="_blank" href="/omim/300757">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=394544">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=394544" ref="ncbi_uid=394544">V</a></span></span><span class="TLline"><a href="/medgen/394544" ref="tree=GTR&ncbi_uid=394544&link_uid=394544" title="View MedGen record for 'Retinitis pigmentosa 2'">Retinitis pigmentosa 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1845667[DISCUI]&test_type=Clinical" ref="ncbi_uid=336999">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=336999" target="_blank" href="/omim/300029">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=336999">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=336999" ref="ncbi_uid=336999">V</a></span></span><span class="TLline"><a href="/medgen/336999" ref="tree=GTR&ncbi_uid=336999&link_uid=336999" title="View MedGen record for 'Retinitis pigmentosa 3'">Retinitis pigmentosa 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151001[DISCUI]&test_type=Clinical" ref="ncbi_uid=462351">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462351" target="_blank" href="/omim/180380">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462351">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462351" ref="ncbi_uid=462351">V</a></span></span><span class="TLline"><a href="/medgen/462351" ref="tree=GTR&ncbi_uid=462351&link_uid=462351" title="View MedGen record for 'Retinitis pigmentosa 4'">Retinitis pigmentosa 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842475[DISCUI]&test_type=Clinical" ref="ncbi_uid=334168">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334168" target="_blank" href="/omim/179605">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=334168">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334168" ref="ncbi_uid=334168">V</a></span></span><span class="TLline"><a href="/medgen/334168" ref="tree=GTR&ncbi_uid=334168&link_uid=334168" title="View MedGen record for 'Retinitis pigmentosa 7'">Retinitis pigmentosa 7</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1867300[DISCUI]&test_type=Clinical" ref="ncbi_uid=356743">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=356743" target="_blank" href="/omim/180104">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=356743">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=356743" ref="ncbi_uid=356743">V</a></span></span><span class="TLline"><a href="/medgen/356743" ref="tree=GTR&ncbi_uid=356743&link_uid=356743" title="View MedGen record for 'Retinitis pigmentosa 9'">Retinitis pigmentosa 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1867299[DISCUI]&test_type=Clinical" ref="ncbi_uid=357247">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=357247" target="_blank" href="/omim/146690">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=357247">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=357247" ref="ncbi_uid=357247">V</a></span></span><span class="TLline"><a href="/medgen/357247" ref="tree=GTR&ncbi_uid=357247&link_uid=357247" title="View MedGen record for 'Retinitis pigmentosa 10'">Retinitis pigmentosa 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838601[DISCUI]&test_type=Clinical" ref="ncbi_uid=325055">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325055" target="_blank" href="/omim/600138">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=325055">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325055" ref="ncbi_uid=325055">V</a></span></span><span class="TLline"><a href="/medgen/325055" ref="tree=GTR&ncbi_uid=325055&link_uid=325055" title="View MedGen record for 'Retinitis pigmentosa 11'">Retinitis pigmentosa 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838647[DISCUI]&test_type=Clinical" ref="ncbi_uid=374019">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=374019" target="_blank" href="/omim/600105">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=374019">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=374019" ref="ncbi_uid=374019">V</a></span></span><span class="TLline"><a href="/medgen/374019" ref="tree=GTR&ncbi_uid=374019&link_uid=374019" title="View MedGen record for 'Retinitis pigmentosa 12'">Retinitis pigmentosa 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838702[DISCUI]&test_type=Clinical" ref="ncbi_uid=325486">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325486" target="_blank" href="/omim/600059">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=325486">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325486" ref="ncbi_uid=325486">V</a></span></span><span class="TLline"><a href="/medgen/325486" ref="tree=GTR&ncbi_uid=325486&link_uid=325486" title="View MedGen record for 'Retinitis pigmentosa 13'">Retinitis pigmentosa 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1838603[DISCUI]&test_type=Clinical" ref="ncbi_uid=325056">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=325056" target="_blank" href="/omim/600132">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=325056">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=325056" ref="ncbi_uid=325056">V</a></span></span><span class="TLline"><a href="/medgen/325056" ref="tree=GTR&ncbi_uid=325056&link_uid=325056" title="View MedGen record for 'Retinitis pigmentosa 14'">Retinitis pigmentosa 14</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1833245[DISCUI]&test_type=Clinical" ref="ncbi_uid=322153">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322153" target="_blank" href="/omim/600852">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=322153">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=322153" ref="ncbi_uid=322153">V</a></span></span><span class="TLline"><a href="/medgen/322153" ref="tree=GTR&ncbi_uid=322153&link_uid=322153" title="View MedGen record for 'Retinitis pigmentosa 17'">Retinitis pigmentosa 17</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1832378[DISCUI]&test_type=Clinical" ref="ncbi_uid=371314">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=371314" target="_blank" href="/omim/601414">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=371314">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=371314" ref="ncbi_uid=371314">V</a></span></span><span class="TLline"><a href="/medgen/371314" ref="tree=GTR&ncbi_uid=371314&link_uid=371314" title="View MedGen record for 'Retinitis pigmentosa 18'">Retinitis pigmentosa 18</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866422[DISCUI]&test_type=Clinical" ref="ncbi_uid=400996">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400996" target="_blank" href="/omim/601691">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=400996">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=400996" ref="ncbi_uid=400996">V</a></span></span><span class="TLline"><a href="/medgen/400996" ref="tree=GTR&ncbi_uid=400996&link_uid=400996" title="View MedGen record for 'Retinitis pigmentosa 19'">Retinitis pigmentosa 19</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151086[DISCUI]&test_type=Clinical" ref="ncbi_uid=462436">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462436" target="_blank" href="/omim/180069">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462436">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462436" ref="ncbi_uid=462436">V</a></span></span><span class="TLline"><a href="/medgen/462436" ref="tree=GTR&ncbi_uid=462436&link_uid=462436" title="View MedGen record for 'Retinitis pigmentosa 20'">Retinitis pigmentosa 20</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864446[DISCUI]&test_type=Clinical" ref="ncbi_uid=350427">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=350427" target="_blank" href="/omim/602772">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=350427">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=350427" ref="ncbi_uid=350427">V</a></span></span><span class="TLline"><a href="/medgen/350427" ref="tree=GTR&ncbi_uid=350427&link_uid=350427" title="View MedGen record for 'Retinitis pigmentosa 25'">Retinitis pigmentosa 25</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842127[DISCUI]&test_type=Clinical" ref="ncbi_uid=333996">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=333996" target="_blank" href="/omim/608380">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=333996">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=333996" ref="ncbi_uid=333996">V</a></span></span><span class="TLline"><a href="/medgen/333996" ref="tree=GTR&ncbi_uid=333996&link_uid=333996" title="View MedGen record for 'Retinitis pigmentosa 26'">Retinitis pigmentosa 26</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1834329[DISCUI]&test_type=Clinical" ref="ncbi_uid=320323">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=320323" target="_blank" href="/omim/162080">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=320323">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=320323" ref="ncbi_uid=320323">V</a></span></span><span class="TLline"><a href="/medgen/320323" ref="tree=GTR&ncbi_uid=320323&link_uid=320323" title="View MedGen record for 'Retinitis pigmentosa 27'">Retinitis pigmentosa 27</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1419614[DISCUI]&test_type=Clinical" ref="ncbi_uid=244030">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=244030" target="_blank" href="/omim/606068">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=244030">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=244030" ref="ncbi_uid=244030">V</a></span></span><span class="TLline"><a href="/medgen/244030" ref="tree=GTR&ncbi_uid=244030&link_uid=244030" title="View MedGen record for 'Retinitis pigmentosa 28'">Retinitis pigmentosa 28</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842816[DISCUI]&test_type=Clinical" ref="ncbi_uid=334614">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334614" target="_blank" href="/omim/607643">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=334614">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=334614" ref="ncbi_uid=334614">V</a></span></span><span class="TLline"><a href="/medgen/334614" ref="tree=GTR&ncbi_uid=334614&link_uid=334614" title="View MedGen record for 'Retinitis pigmentosa 30'">Retinitis pigmentosa 30</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835923[DISCUI]&test_type=Clinical" ref="ncbi_uid=372159">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=372159" target="_blank" href="/omim/609507">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=372159">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=372159" ref="ncbi_uid=372159">V</a></span></span><span class="TLline"><a href="/medgen/372159" ref="tree=GTR&ncbi_uid=372159&link_uid=372159" title="View MedGen record for 'Retinitis pigmentosa 31'">Retinitis pigmentosa 31</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1835895[DISCUI]&test_type=Clinical" ref="ncbi_uid=332080">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332080" target="_blank" href="/omim/601664">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=332080">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=332080" ref="ncbi_uid=332080">V</a></span></span><span class="TLline"><a href="/medgen/332080" ref="tree=GTR&ncbi_uid=332080&link_uid=332080" title="View MedGen record for 'Retinitis pigmentosa 33'">Retinitis pigmentosa 33</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853214[DISCUI]&test_type=Clinical" ref="ncbi_uid=339931">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=339931" target="_blank" href="/omim/607292">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=339931">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=339931" ref="ncbi_uid=339931">V</a></span></span><span class="TLline"><a href="/medgen/339931" ref="tree=GTR&ncbi_uid=339931&link_uid=339931" title="View MedGen record for 'Retinitis pigmentosa 35'">Retinitis pigmentosa 35</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864621[DISCUI]&test_type=Clinical" ref="ncbi_uid=351175">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=351175" target="_blank" href="/omim/610598">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=351175">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=351175" ref="ncbi_uid=351175">V</a></span></span><span class="TLline"><a href="/medgen/351175" ref="tree=GTR&ncbi_uid=351175&link_uid=351175" title="View MedGen record for 'Retinitis pigmentosa 36'">Retinitis pigmentosa 36</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1970163[DISCUI]&test_type=Clinical" ref="ncbi_uid=410004">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=410004" target="_blank" href="/omim/604485">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=410004">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=410004" ref="ncbi_uid=410004">V</a></span></span><span class="TLline"><a href="/medgen/410004" ref="tree=GTR&ncbi_uid=410004&link_uid=410004" title="View MedGen record for 'Retinitis pigmentosa 37'">Retinitis pigmentosa 37</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151228[DISCUI]&test_type=Clinical" ref="ncbi_uid=462578">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462578" target="_blank" href="/omim/604705">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462578">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462578" ref="ncbi_uid=462578">V</a></span></span><span class="TLline"><a href="/medgen/462578" ref="tree=GTR&ncbi_uid=462578&link_uid=462578" title="View MedGen record for 'Retinitis pigmentosa 38'">Retinitis pigmentosa 38</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151138[DISCUI]&test_type=Clinical" ref="ncbi_uid=462488">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462488" target="_blank" href="/omim/608400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462488">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462488" ref="ncbi_uid=462488">V</a></span></span><span class="TLline"><a href="/medgen/462488" ref="tree=GTR&ncbi_uid=462488&link_uid=462488" title="View MedGen record for 'Retinitis pigmentosa 39'">Retinitis pigmentosa 39</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151107[DISCUI]&test_type=Clinical" ref="ncbi_uid=462457">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462457" target="_blank" href="/omim/180072">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462457">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462457" ref="ncbi_uid=462457">V</a></span></span><span class="TLline"><a href="/medgen/462457" ref="tree=GTR&ncbi_uid=462457&link_uid=462457" title="View MedGen record for 'Retinitis pigmentosa 40'">Retinitis pigmentosa 40</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2677516[DISCUI]&test_type=Clinical" ref="ncbi_uid=383126">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=383126" target="_blank" href="/omim/604365">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=383126">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=383126" ref="ncbi_uid=383126">V</a></span></span><span class="TLline"><a href="/medgen/383126" ref="tree=GTR&ncbi_uid=383126&link_uid=383126" title="View MedGen record for 'Retinitis pigmentosa 41'">Retinitis pigmentosa 41</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751986[DISCUI]&test_type=Clinical" ref="ncbi_uid=442864">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442864" target="_blank" href="/omim/611119">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=442864">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=442864" ref="ncbi_uid=442864">V</a></span></span><span class="TLline"><a href="/medgen/442864" ref="tree=GTR&ncbi_uid=442864&link_uid=442864" title="View MedGen record for 'Retinitis pigmentosa 42'">Retinitis pigmentosa 42</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151139[DISCUI]&test_type=Clinical" ref="ncbi_uid=462489">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462489" target="_blank" href="/omim/180071">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462489">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462489" ref="ncbi_uid=462489">V</a></span></span><span class="TLline"><a href="/medgen/462489" ref="tree=GTR&ncbi_uid=462489&link_uid=462489" title="View MedGen record for 'Retinitis pigmentosa 43'">Retinitis pigmentosa 43</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151068[DISCUI]&test_type=Clinical" ref="ncbi_uid=462418">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462418" target="_blank" href="/omim/600342">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462418">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462418" ref="ncbi_uid=462418">V</a></span></span><span class="TLline"><a href="/medgen/462418" ref="tree=GTR&ncbi_uid=462418&link_uid=462418" title="View MedGen record for 'Retinitis pigmentosa 44'">Retinitis pigmentosa 44</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151066[DISCUI]&test_type=Clinical" ref="ncbi_uid=462416">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462416" target="_blank" href="/omim/600724">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462416">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462416" ref="ncbi_uid=462416">V</a></span></span><span class="TLline"><a href="/medgen/462416" ref="tree=GTR&ncbi_uid=462416&link_uid=462416" title="View MedGen record for 'Retinitis pigmentosa 45'">Retinitis pigmentosa 45</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675496[DISCUI]&test_type=Clinical" ref="ncbi_uid=382614">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382614" target="_blank" href="/omim/604526">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=382614">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=382614" ref="ncbi_uid=382614">V</a></span></span><span class="TLline"><a href="/medgen/382614" ref="tree=GTR&ncbi_uid=382614&link_uid=382614" title="View MedGen record for 'Retinitis pigmentosa 46'">Retinitis pigmentosa 46</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151061[DISCUI]&test_type=Clinical" ref="ncbi_uid=462411">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462411" target="_blank" href="/omim/181031">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462411">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462411" ref="ncbi_uid=462411">V</a></span></span><span class="TLline">Retinitis pigmentosa 47</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151190[DISCUI]&test_type=Clinical" ref="ncbi_uid=462540">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462540" target="_blank" href="/omim/602275">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462540">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462540" ref="ncbi_uid=462540">V</a></span></span><span class="TLline"><a href="/medgen/462540" ref="tree=GTR&ncbi_uid=462540&link_uid=462540" title="View MedGen record for 'Retinitis pigmentosa 48'">Retinitis pigmentosa 48</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2750789[DISCUI]&test_type=Clinical" ref="ncbi_uid=442563">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442563" target="_blank" href="/omim/607854">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=442563">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=442563" ref="ncbi_uid=442563">V</a></span></span><span class="TLline"><a href="/medgen/442563" ref="tree=GTR&ncbi_uid=442563&link_uid=442563" title="View MedGen record for 'Retinitis pigmentosa 50'">Retinitis pigmentosa 50</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150715[DISCUI]&test_type=Clinical" ref="ncbi_uid=462065">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462065" target="_blank" href="/omim/608132">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462065">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462065" ref="ncbi_uid=462065">V</a></span></span><span class="TLline"><a href="/medgen/462065" ref="tree=GTR&ncbi_uid=462065&link_uid=462065" title="View MedGen record for 'Retinitis pigmentosa 51'">Retinitis pigmentosa 51</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150691[DISCUI]&test_type=Clinical" ref="ncbi_uid=462041">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462041" target="_blank" href="/omim/613425">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462041">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462041" ref="ncbi_uid=462041">V</a></span></span><span class="TLline"><a href="/medgen/462041" ref="tree=GTR&ncbi_uid=462041&link_uid=462041" title="View MedGen record for 'Retinitis pigmentosa 54'">Retinitis pigmentosa 54</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150819[DISCUI]&test_type=Clinical" ref="ncbi_uid=462169">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462169" target="_blank" href="/omim/607056">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462169">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462169" ref="ncbi_uid=462169">V</a></span></span><span class="TLline"><a href="/medgen/462169" ref="tree=GTR&ncbi_uid=462169&link_uid=462169" title="View MedGen record for 'Retinitis pigmentosa 56'">Retinitis pigmentosa 56</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150879[DISCUI]&test_type=Clinical" ref="ncbi_uid=462229">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462229" target="_blank" href="/omim/613598">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462229">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462229" ref="ncbi_uid=462229">V</a></span></span><span class="TLline"><a href="/medgen/462229" ref="tree=GTR&ncbi_uid=462229&link_uid=462229" title="View MedGen record for 'Retinitis pigmentosa 58'">Retinitis pigmentosa 58</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151227[DISCUI]&test_type=Clinical" ref="ncbi_uid=462577">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462577" target="_blank" href="/omim/608172">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462577">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462577" ref="ncbi_uid=462577">V</a></span></span><span class="TLline"><a href="/medgen/462577" ref="tree=GTR&ncbi_uid=462577&link_uid=462577" title="View MedGen record for 'Retinitis pigmentosa 59'">Retinitis pigmentosa 59</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151434[DISCUI]&test_type=Clinical" ref="ncbi_uid=462784">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462784" target="_blank" href="/omim/613979">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=462784">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462784" ref="ncbi_uid=462784">V</a></span></span><span class="TLline"><a href="/medgen/462784" ref="tree=GTR&ncbi_uid=462784&link_uid=462784" title="View MedGen record for 'Retinitis pigmentosa 60'">Retinitis pigmentosa 60</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280042[DISCUI]&test_type=Clinical" ref="ncbi_uid=481672">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481672" target="_blank" href="/omim/154235">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1417/" ref="ncbi_uid=481672">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=481672" ref="ncbi_uid=481672">V</a></span></span><span class="TLline"><a href="/medgen/481672" ref="tree=GTR&ncbi_uid=481672&link_uid=481672" title="View MedGen record for 'Retinitis pigmentosa 62'">Retinitis pigmentosa 62</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3281046[DISCUI]&test_type=Clinical" ref="ncbi_uid=482676">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482676" target="_blank" href="/omim/614477">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=482676" ref="ncbi_uid=482676">V</a></span></span><span class="TLline"><a href="/medgen/482676" ref="tree=GTR&ncbi_uid=482676&link_uid=482676" title="View MedGen record for 'Retinitis pigmentosa 64'">Retinitis pigmentosa 64</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3552852[DISCUI]&test_type=Clinical" ref="ncbi_uid=765766">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=765766" target="_blank" href="/omim/609502">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=765766" ref="ncbi_uid=765766">V</a></span></span><span class="TLline"><a href="/medgen/765766" ref="tree=GTR&ncbi_uid=765766&link_uid=765766" title="View MedGen record for 'Retinitis pigmentosa 65'">Retinitis pigmentosa 65</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3715216[DISCUI]&test_type=Clinical" ref="ncbi_uid=811638">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=811638" target="_blank" href="/omim/180290">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=811638" ref="ncbi_uid=811638">V</a></span></span><span class="TLline"><a href="/medgen/811638" ref="tree=GTR&ncbi_uid=811638&link_uid=811638" title="View MedGen record for 'Retinitis pigmentosa 66'">Retinitis pigmentosa 66</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3809954[DISCUI]&test_type=Clinical" ref="ncbi_uid=816284">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816284" target="_blank" href="/omim/604043">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816284" ref="ncbi_uid=816284">V</a></span></span><span class="TLline"><a href="/medgen/816284" ref="tree=GTR&ncbi_uid=816284&link_uid=816284" title="View MedGen record for 'Retinitis pigmentosa 67'">Retinitis pigmentosa 67</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3810380[DISCUI]&test_type=Clinical" ref="ncbi_uid=816710">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=816710" target="_blank" href="/omim/615720">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=816710" ref="ncbi_uid=816710">V</a></span></span><span class="TLline"><a href="/medgen/816710" ref="tree=GTR&ncbi_uid=816710&link_uid=816710" title="View MedGen record for 'Retinitis pigmentosa 68'">Retinitis pigmentosa 68</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4014312[DISCUI]&test_type=Clinical" ref="ncbi_uid=862749">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=862749" target="_blank" href="/omim/615757">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=862749" ref="ncbi_uid=862749">V</a></span></span><span class="TLline"><a href="/medgen/862749" ref="tree=GTR&ncbi_uid=862749&link_uid=862749" title="View MedGen record for 'Retinitis pigmentosa 69'">Retinitis pigmentosa 69</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4014681[DISCUI]&test_type=Clinical" ref="ncbi_uid=863118">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863118" target="_blank" href="/omim/607795">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=863118" ref="ncbi_uid=863118">V</a></span></span><span class="TLline"><a href="/medgen/863118" ref="tree=GTR&ncbi_uid=863118&link_uid=863118" title="View MedGen record for 'Retinitis pigmentosa 70'">Retinitis pigmentosa 70</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/18325" ref="tree=MeSH" title="MedGen record for Pathological process">Pathological process</a></span><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/5092" ref="tree=MeSH" title="MedGen record for Disorder of eye">Disorder of eye</a></span><ul><li><span class="TLline"><a href="/medgen/41933" ref="tree=MeSH" title="MedGen record for Hereditary eye diseases">Hereditary eye diseases</a></span><ul><li><span class="TLline"><a href="/medgen/20551" ref="tree=MeSH" title="MedGen record for Retinitis pigmentosa">Retinitis pigmentosa</a></span><ul><li><span class="matched_ds">Retinitis pigmentosa 47</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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|
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37466950">Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stephenson KAJ,
|
||
Whelan L,
|
||
Zhu J,
|
||
Dockery A,
|
||
Wynne NC,
|
||
Cairns RM,
|
||
Kirk C,
|
||
Turner J,
|
||
Duignan ES,
|
||
O'Byrne JJ,
|
||
Silvestri G,
|
||
Kenna PF,
|
||
Farrar GJ,
|
||
Keegan DJ</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2023 Jul 3;64(10):23.
|
||
doi: 10.1167/iovs.64.10.23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37466950" target="_blank">37466950</a><a href="/pmc/articles/PMC10362925" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35266249">Tissue-specific genotype-phenotype correlations among USH2A-related disorders in the RUSH2A study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hufnagel RB,
|
||
Liang W,
|
||
Duncan JL,
|
||
Brewer CC,
|
||
Audo I,
|
||
Ayala AR,
|
||
Branham K,
|
||
Cheetham JK,
|
||
Daiger SP,
|
||
Durham TA,
|
||
Guan B,
|
||
Heon E,
|
||
Hoyng CB,
|
||
Iannaccone A,
|
||
Kay CN,
|
||
Michaelides M,
|
||
Pennesi ME,
|
||
Singh MS,
|
||
Ullah E;
|
||
Foundation Fighting Blindness Consortium Investigator Group</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2022 May;43(5):613-624.
|
||
Epub 2022 Mar 21
|
||
doi: 10.1002/humu.24365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35266249" target="_blank">35266249</a><a href="/pmc/articles/PMC9018588" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30977268">Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
|
||
Gliem M,
|
||
Oishi A,
|
||
Müller PL,
|
||
Herrmann P,
|
||
Holz FG,
|
||
Mangold E,
|
||
Knapp M,
|
||
Bolz HJ,
|
||
Charbel Issa P</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Ophthalmol</span>
|
||
2019 Aug;47(6):779-786.
|
||
Epub 2019 May 8
|
||
doi: 10.1111/ceo.13516.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30977268" target="_blank">30977268</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(retinitis%20pigmentosa%2047)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (11)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28358950">Quantifying Fundus Autofluorescence in Patients With Retinitis Pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schuerch K,
|
||
Woods RL,
|
||
Lee W,
|
||
Duncker T,
|
||
Delori FC,
|
||
Allikmets R,
|
||
Tsang SH,
|
||
Sparrow JR</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2017 Mar 1;58(3):1843-1855.
|
||
doi: 10.1167/iovs.16-21302.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28358950" target="_blank">28358950</a><a href="/pmc/articles/PMC5377994" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26780318">Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang F,
|
||
Pan Z,
|
||
Xu K,
|
||
Tian L,
|
||
Xie Y,
|
||
Zhang X,
|
||
Chen J,
|
||
Dong B,
|
||
Li Y</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2016 Jan 1;57(1):145-52.
|
||
doi: 10.1167/iovs.15-18190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26780318" target="_blank">26780318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26314744">Vitreous cysts in patients with retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yoshida N,
|
||
Ikeda Y,
|
||
Murakami Y,
|
||
Nakatake S,
|
||
Tachibana T,
|
||
Notomi S,
|
||
Hisatomi T,
|
||
Ishibashi T</span><br />
|
||
<span class="medgenPMjournal">Jpn J Ophthalmol</span>
|
||
2015 Nov;59(6):373-7.
|
||
Epub 2015 Aug 29
|
||
doi: 10.1007/s10384-015-0405-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26314744" target="_blank">26314744</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20507924">Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McGee TL,
|
||
Seyedahmadi BJ,
|
||
Sweeney MO,
|
||
Dryja TP,
|
||
Berson EL</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2010 Jul;47(7):499-506.
|
||
Epub 2010 May 27
|
||
doi: 10.1136/jmg.2009.075143.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20507924" target="_blank">20507924</a><a href="/pmc/articles/PMC3070405" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19079403">Laurence-Moon-Bardet-Biedl syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sahu JK,
|
||
Jain V</span><br />
|
||
<span class="medgenPMjournal">JNMA J Nepal Med Assoc</span>
|
||
2008 Oct-Dec;47(172):235-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19079403" target="_blank">19079403</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2047%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (125)</a></div><h3 class="subhead">Diagnosis</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/33946315">Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Kim YJ,
|
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Kim YN,
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Yoon YH,
|
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Seo EJ,
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Seo GH,
|
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Keum C,
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Lee BH,
|
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Lee JY</span><br />
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<span class="medgenPMjournal">Genes (Basel)</span>
|
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2021 Apr 30;12(5)
|
||
doi: 10.3390/genes12050675.
|
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<span class="bold">PMID: </span><a href="/pubmed/33946315" target="_blank">33946315</a><a href="/pmc/articles/PMC8146864" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/32012938">RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen XT,
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Talib M,
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van Schooneveld MJ,
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Brinks J,
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Ten Brink J,
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Florijn RJ,
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Wijnholds J,
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Bergen AA,
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Boon CJF</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2020 Jan 28;21(3)
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<span class="bold">PMID: </span><a href="/pubmed/32012938" target="_blank">32012938</a><a href="/pmc/articles/PMC7038140" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28358950">Quantifying Fundus Autofluorescence in Patients With Retinitis Pigmentosa.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Schuerch K,
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Woods RL,
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Lee W,
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Duncker T,
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Delori FC,
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Allikmets R,
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Tsang SH,
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<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
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2017 Mar 1;58(3):1843-1855.
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|
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<span class="bold">PMID: </span><a href="/pubmed/28358950" target="_blank">28358950</a><a href="/pmc/articles/PMC5377994" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/26780318">Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jiang F,
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Pan Z,
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Xu K,
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Tian L,
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Xie Y,
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Zhang X,
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Chen J,
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Dong B,
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2016 Jan 1;57(1):145-52.
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doi: 10.1167/iovs.15-18190.
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<span class="bold">PMID: </span><a href="/pubmed/26780318" target="_blank">26780318</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/18421205">Usher's syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Skeik N,
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<span class="bold">PMID: </span><a href="/pubmed/18421205" target="_blank">18421205</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2047%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (150)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38151648">Dysregulation of histone deacetylases in ocular diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Jun JH,
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2024 Jan;47(1):20-39.
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<span class="bold">PMID: </span><a href="/pubmed/38151648" target="_blank">38151648</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32573764">Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz SG,
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Wang X,
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Kuriyan AE,
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Abariga SA</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/32573764" target="_blank">32573764</a><a href="/pmc/articles/PMC7388842" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Daschner R,
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Greppmaier U,
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|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/20703049">Retinitis pigmentosa and other dystrophies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sahel J,
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Bonnel S,
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<span class="bold">PMID: </span><a href="/pubmed/20703049" target="_blank">20703049</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/9734800">Retinitis pigmentosa inversa.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ferrucci S,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2047%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (23)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32573764">Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz SG,
|
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Wang X,
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Chavis P,
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Kuriyan AE,
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Abariga SA</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2020 Jun 18;6(6):CD008428.
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<span class="bold">PMID: </span><a href="/pubmed/32573764" target="_blank">32573764</a><a href="/pmc/articles/PMC7388842" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28358950">Quantifying Fundus Autofluorescence in Patients With Retinitis Pigmentosa.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Schuerch K,
|
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Woods RL,
|
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Lee W,
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Duncker T,
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Delori FC,
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Allikmets R,
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Tsang SH,
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2017 Mar 1;58(3):1843-1855.
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doi: 10.1167/iovs.16-21302.
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<span class="bold">PMID: </span><a href="/pubmed/28358950" target="_blank">28358950</a><a href="/pmc/articles/PMC5377994" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26780318">Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Jiang F,
|
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Pan Z,
|
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Xu K,
|
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Tian L,
|
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Xie Y,
|
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Zhang X,
|
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Chen J,
|
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Dong B,
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Li Y</span><br />
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<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
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2016 Jan 1;57(1):145-52.
|
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doi: 10.1167/iovs.15-18190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26780318" target="_blank">26780318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21989720">Disease course of patients with unilateral pigmentary retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Potsidis E,
|
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Berson EL,
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Sandberg MA</span><br />
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<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
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2011 Nov 29;52(12):9244-9.
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doi: 10.1167/iovs.11-7892.
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<span class="bold">PMID: </span><a href="/pubmed/21989720" target="_blank">21989720</a><a href="/pmc/articles/PMC3302431" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19079403">Laurence-Moon-Bardet-Biedl syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sahu JK,
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Jain V</span><br />
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<span class="medgenPMjournal">JNMA J Nepal Med Assoc</span>
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2008 Oct-Dec;47(172):235-7.
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2047%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (55)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37762234">Foveal Hypoplasia in CRB1-Related Retinopathies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rodriguez-Martinez AC,
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Higgins BE,
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Malka S,
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Cheloni R,
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<span class="bold">PMID: </span><a href="/pubmed/37762234" target="_blank">37762234</a><a href="/pmc/articles/PMC10531165" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
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||
<div class="nl"><a target="_blank" href="/pubmed/32573764">Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz SG,
|
||
Wang X,
|
||
Chavis P,
|
||
Kuriyan AE,
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Abariga SA</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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doi: 10.1002/14651858.CD008428.pub3.
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||
<span class="bold">PMID: </span><a href="/pubmed/32573764" target="_blank">32573764</a><a href="/pmc/articles/PMC7388842" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26314744">Vitreous cysts in patients with retinitis pigmentosa.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Yoshida N,
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Ikeda Y,
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Murakami Y,
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Nakatake S,
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Tachibana T,
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Notomi S,
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Hisatomi T,
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Ishibashi T</span><br />
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<span class="medgenPMjournal">Jpn J Ophthalmol</span>
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Epub 2015 Aug 29
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doi: 10.1007/s10384-015-0405-1.
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<span class="bold">PMID: </span><a href="/pubmed/26314744" target="_blank">26314744</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21989720">Disease course of patients with unilateral pigmentary retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Potsidis E,
|
||
Berson EL,
|
||
Sandberg MA</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2011 Nov 29;52(12):9244-9.
|
||
doi: 10.1167/iovs.11-7892.
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||
<span class="bold">PMID: </span><a href="/pubmed/21989720" target="_blank">21989720</a><a href="/pmc/articles/PMC3302431" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7606847">Retinitis pigmentosa in India: a genetic and segregation analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kar B,
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John S,
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Kumaramanickavel G</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2047%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (84)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33258268">Natural history and clinical biomarkers of progression in X-linked retinitis pigmentosa: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zada M,
|
||
Cornish EE,
|
||
Fraser CL,
|
||
Jamieson RV,
|
||
Grigg JR</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2021 Aug;99(5):499-510.
|
||
Epub 2020 Nov 30
|
||
doi: 10.1111/aos.14662.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33258268" target="_blank">33258268</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32573764">Vitamin A and fish oils for preventing the progression of retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz SG,
|
||
Wang X,
|
||
Chavis P,
|
||
Kuriyan AE,
|
||
Abariga SA</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2020 Jun 18;6(6):CD008428.
|
||
doi: 10.1002/14651858.CD008428.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32573764" target="_blank">32573764</a><a href="/pmc/articles/PMC7388842" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2047%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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<div>
|
||
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3151061%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151061%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151061%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (22)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151061%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3151061%5bDISCUI%5d" target="_blank">See all (26)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=613758" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Retinitis%20pigmentosa%2047" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(retinitis%20pigmentosa%2047)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc4cb5b15b832ebca467a5">Retinitis pigmentosa 47</a>
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