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<meta name="keywords" content="C1842475, disease or syndrome, leber congenital amaurosis 18, prph2, retinitis pigmentosa 7, retinitis pigmentosa 7, digenic, retinitis pigmentosa type 7, rom1, rp 7, rp7, 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="A retinitis pigmentosain which the cause of the disease is a variation in the RDS gene (PRPH2). A digenic form of retinitis pigmentosa, resulting from a mutation in the RDS gene and a null mutation of the ROM1 gene, has also been reported." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=334168
|
||
ConceptID=C1842475
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Retinitis pigmentosa 7<span class="h1sub">(RP7)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334168</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:">C1842475</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>RP 7; RP7</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">Genes (locations):<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="PRPH2 - ID: 5961 - NCBI Gene" href="/gene/5961" class="medgenPMinfo">PRPH2</a> (6p21.1); <a target="_blank" title="ROM1 - ID: 6094 - NCBI Gene" href="/gene/6094" class="medgenPMinfo">ROM1</a> (11q12.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011974" target="_blank">MONDO:0011974</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/608133" target="_blank">608133</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>
|
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<div class="portlet mgSection" id="ID_100">
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||
<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">A retinitis pigmentosain which the cause of the disease is a variation in the RDS gene (PRPH2). A digenic form of retinitis pigmentosa, resulting from a mutation in the RDS gene and a null mutation of the ROM1 gene, has also been reported. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
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</div>
|
||
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<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_68613"><div><strong>Constriction of peripheral visual field</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68613</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.">C0235095</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68613">Feature record</a> | <a href="/medgen?term=%22Constriction%20of%20peripheral%20visual%20field%22%5BClinical%20Features%5D%20OR%2068613%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_96908"><div><strong>Abnormal electroretinogram</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96908</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.">C0476397</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96908">Feature record</a> | <a href="/medgen?term=%22Abnormal%20electroretinogram%22%5BClinical%20Features%5D%20OR%2096908%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480605"><div><strong>Attenuation of retinal blood vessels</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480605</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.">C3278975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480605">Feature record</a> | <a href="/medgen?term=%22Attenuation%20of%20retinal%20blood%20vessels%22%5BClinical%20Features%5D%20OR%20480605%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870346"><div><strong>Adult-onset night blindness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870346</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.">C4024790</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 with onset in adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870346">Feature record</a> | <a href="/medgen?term=%22Adult-onset%20night%20blindness%22%5BClinical%20Features%5D%20OR%20870346%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_96908" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal electroretinogram</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870346" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Adult-onset night blindness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_480605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attenuation of retinal blood vessels</a></span></li><li class="TLline">
|
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<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">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constriction of peripheral visual field</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></ul></li></ul></div></div>
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</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="matched_ds"><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">Retinitis pigmentosa 7</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="TLclosed"><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"><a href="/medgen/462411" ref="tree=GTR&ncbi_uid=462411&link_uid=462411" title="View MedGen record for 'Retinitis pigmentosa 47'">Retinitis pigmentosa 47</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=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 7</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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/38693265">Structural basis of lipid head group entry to the Kennedy pathway by FLVCR1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Son Y,
|
||
Kenny TC,
|
||
Khan A,
|
||
Birsoy K,
|
||
Hite RK</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
2024 May;629(8012):710-716.
|
||
Epub 2024 May 1
|
||
doi: 10.1038/s41586-024-07374-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38693265" target="_blank">38693265</a><a href="/pmc/articles/PMC11188936" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35181704">Causes of functional low vision in a Brazilian rehabilitation service.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferreira MM,
|
||
Antunes-Foschini R,
|
||
Furtado JM</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Feb 18;12(1):2807.
|
||
doi: 10.1038/s41598-022-06798-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35181704" target="_blank">35181704</a><a href="/pmc/articles/PMC8857251" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35014575">Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiou YR,
|
||
Cheng HC,
|
||
Wang AG</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2022 Jun;43(3):409-412.
|
||
Epub 2022 Jan 11
|
||
doi: 10.1080/13816810.2022.2025604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35014575" target="_blank">35014575</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29781739">Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yahalom C,
|
||
Macarov M,
|
||
Lazer-Derbeko G,
|
||
Altarescu G,
|
||
Imbar T,
|
||
Hyman JH,
|
||
Eldar-Geva T,
|
||
Blumenfeld A</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2018 Aug;39(4):450-456.
|
||
Epub 2018 May 21
|
||
doi: 10.1080/13816810.2018.1474368.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29781739" target="_blank">29781739</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3473348">Genetic study of retinitis pigmentosa in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeng LH,
|
||
Wu DZ,
|
||
Ma QY,
|
||
Wu LH</span><br />
|
||
<span class="medgenPMjournal">Ophthalmologica</span>
|
||
1987;194(1):34-9.
|
||
doi: 10.1159/000309731.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3473348" target="_blank">3473348</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%207%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35014575">Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chiou YR,
|
||
Cheng HC,
|
||
Wang AG</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2022 Jun;43(3):409-412.
|
||
Epub 2022 Jan 11
|
||
doi: 10.1080/13816810.2022.2025604.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35014575" target="_blank">35014575</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29781739">Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yahalom C,
|
||
Macarov M,
|
||
Lazer-Derbeko G,
|
||
Altarescu G,
|
||
Imbar T,
|
||
Hyman JH,
|
||
Eldar-Geva T,
|
||
Blumenfeld A</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2018 Aug;39(4):450-456.
|
||
Epub 2018 May 21
|
||
doi: 10.1080/13816810.2018.1474368.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29781739" target="_blank">29781739</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9987629">Evaluation of the Night Vision Spectacles on patients with impaired night vision.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedburg C,
|
||
Serey L,
|
||
Sharpe LT,
|
||
Trauzettel-Klosinski S,
|
||
Zrenner E</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
1999 Feb;237(2):125-36.
|
||
doi: 10.1007/s004170050207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9987629" target="_blank">9987629</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%207%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 (3)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22595906">Visual impairment in the 40- to 64-year-old population of Shahroud, Iran.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hashemi H,
|
||
Khabazkhoob M,
|
||
Emamian MH,
|
||
Shariati M,
|
||
Fotouhi A</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2012 Aug;26(8):1071-7.
|
||
Epub 2012 May 18
|
||
doi: 10.1038/eye.2012.94.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22595906" target="_blank">22595906</a><a href="/pmc/articles/PMC3420061" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9987629">Evaluation of the Night Vision Spectacles on patients with impaired night vision.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Friedburg C,
|
||
Serey L,
|
||
Sharpe LT,
|
||
Trauzettel-Klosinski S,
|
||
Zrenner E</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
1999 Feb;237(2):125-36.
|
||
doi: 10.1007/s004170050207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9987629" target="_blank">9987629</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%207%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 (2)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33691693">Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma DJ,
|
||
Lee HS,
|
||
Kim K,
|
||
Choi S,
|
||
Jang I,
|
||
Cho SH,
|
||
Yoon CK,
|
||
Lee EK,
|
||
Yu HG</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2021 Mar 10;14(1):74.
|
||
doi: 10.1186/s12920-021-00874-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33691693" target="_blank">33691693</a><a href="/pmc/articles/PMC7945660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16488964">Trends in blind registration in the adult population of the Republic of Ireland 1996-2003.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kelliher C,
|
||
Kenny D,
|
||
O'Brien C</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2006 Mar;90(3):367-71.
|
||
doi: 10.1136/bjo.2005.075861.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16488964" target="_blank">16488964</a><a href="/pmc/articles/PMC1856962" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7600754">Diabetic retinopathy as a cause of blindness in the province of Turin, north-west Italy, in 1967-1991.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Porta M,
|
||
Tomalino MG,
|
||
Santoro F,
|
||
Ghigo LD,
|
||
Cairo M,
|
||
Aimone M,
|
||
Pietragalla GB,
|
||
Passera P,
|
||
Montanaro M,
|
||
Molinatti GM</span><br />
|
||
<span class="medgenPMjournal">Diabet Med</span>
|
||
1995 Apr;12(4):355-61.
|
||
doi: 10.1111/j.1464-5491.1995.tb00492.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7600754" target="_blank">7600754</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%207%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33691693">Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma DJ,
|
||
Lee HS,
|
||
Kim K,
|
||
Choi S,
|
||
Jang I,
|
||
Cho SH,
|
||
Yoon CK,
|
||
Lee EK,
|
||
Yu HG</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2021 Mar 10;14(1):74.
|
||
doi: 10.1186/s12920-021-00874-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33691693" target="_blank">33691693</a><a href="/pmc/articles/PMC7945660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%207%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 (1)</a></div></div>
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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|
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<div class="rightCol mgCol">
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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>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1842475%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (30)</a></li>
|
||
<li><a href="/gtr/tests?term=C1842475%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1842475%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1842475%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1842475%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (38)</a></li>
|
||
<li><a href="/gtr/tests?term=C1842475%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (11)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1842475%5bDISCUI%5d" target="_blank">See all (47)</a></total></li>
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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=608133" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Retinitis%20pigmentosa%207" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=179605%20180721" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5961[geneid]" target="_blank">View PRPH2 variations in ClinVar</a></li><li><a href="/clinvar/?term=6094[geneid]" target="_blank">View ROM1 variations in ClinVar</a></li><li><a href="/nuccore/218563744,224028255" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=608133" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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