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<meta name="keywords" content="C3552852, disease or syndrome, retinitis pigmentosa 65, rp65, 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="" /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=765766
|
||
ConceptID=C3552852
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Retinitis pigmentosa 65<span class="h1sub">(RP65)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>765766</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:">C3552852</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>RP65</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0800352" target="_blank">MONDO:0800352</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/609502" target="_blank">609502</a>; <a href="https://omim.org/entry/613660" target="_blank">613660</a></td></tr>
|
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</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_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 unavailable round" title="Clinical test">C</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="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="matched_ds"><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">Retinitis pigmentosa 65</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 65</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<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/37510321">A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Areblom M,
|
||
Kjellström S,
|
||
Andréasson S,
|
||
Öhberg A,
|
||
Gränse L,
|
||
Kjellström U</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2023 Jul 8;14(7)
|
||
doi: 10.3390/genes14071413.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37510321" target="_blank">37510321</a><a href="/pmc/articles/PMC10379620" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35791130">Prevalence of primary angle-closure disease in retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pradhan ZS,
|
||
Shroff S,
|
||
Bansod A,
|
||
Poornachandra B,
|
||
Shetty A,
|
||
Devi S,
|
||
Rao DAS,
|
||
Puttaiah NK,
|
||
Rao HL</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2022 Jul;70(7):2449-2451.
|
||
doi: 10.4103/ijo.IJO_3189_21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35791130" target="_blank">35791130</a><a href="/pmc/articles/PMC9426169" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8923955">Response to Drs. Shastry and Trese: phenotype-genotype correlations in X-linked retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaplan J,
|
||
Munnich A</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1996 Nov 11;65(4):367.
|
||
doi: 10.1002/(SICI)1096-8628(19961111)65:4<367::AID-AJMG29>3.0.CO;2-R.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8923955" target="_blank">8923955</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(retinitis%20pigmentosa%2065)%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 (15)</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/34839010">Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schneider N,
|
||
Sundaresan Y,
|
||
Gopalakrishnan P,
|
||
Beryozkin A,
|
||
Hanany M,
|
||
Levanon EY,
|
||
Banin E,
|
||
Ben-Aroya S,
|
||
Sharon D</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2022 Jul;89:101029.
|
||
Epub 2021 Nov 25
|
||
doi: 10.1016/j.preteyeres.2021.101029.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34839010" target="_blank">34839010</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34257060">Mitochondrial Retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
|
||
von Landenberg C,
|
||
Gliem M,
|
||
Gliem C,
|
||
Reimann J,
|
||
Kunz WS,
|
||
Herrmann P,
|
||
Betz C,
|
||
Caswell R,
|
||
Nesbitt V,
|
||
Kornblum C,
|
||
Charbel Issa P</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2022 Jan;6(1):65-79.
|
||
Epub 2021 Jul 10
|
||
doi: 10.1016/j.oret.2021.02.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34257060" target="_blank">34257060</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31054281">Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gao FJ,
|
||
Li JK,
|
||
Chen H,
|
||
Hu FY,
|
||
Zhang SH,
|
||
Qi YH,
|
||
Xu P,
|
||
Wang DD,
|
||
Wang LS,
|
||
Chang Q,
|
||
Zhang YJ,
|
||
Liu W,
|
||
Li W,
|
||
Wang M,
|
||
Chen F,
|
||
Xu GZ,
|
||
Wu JH</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2019 Nov;126(11):1549-1556.
|
||
Epub 2019 May 1
|
||
doi: 10.1016/j.ophtha.2019.04.038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31054281" target="_blank">31054281</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/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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2065%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 (137)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35353227">The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Delmaghani S,
|
||
El-Amraoui A</span><br />
|
||
<span class="medgenPMjournal">Hum Genet</span>
|
||
2022 Apr;141(3-4):709-735.
|
||
Epub 2022 Mar 30
|
||
doi: 10.1007/s00439-022-02448-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35353227" target="_blank">35353227</a><a href="/pmc/articles/PMC9034986" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34257060">Mitochondrial Retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
|
||
von Landenberg C,
|
||
Gliem M,
|
||
Gliem C,
|
||
Reimann J,
|
||
Kunz WS,
|
||
Herrmann P,
|
||
Betz C,
|
||
Caswell R,
|
||
Nesbitt V,
|
||
Kornblum C,
|
||
Charbel Issa P</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2022 Jan;6(1):65-79.
|
||
Epub 2021 Jul 10
|
||
doi: 10.1016/j.oret.2021.02.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34257060" target="_blank">34257060</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31213501">Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Koyanagi Y,
|
||
Akiyama M,
|
||
Nishiguchi KM,
|
||
Momozawa Y,
|
||
Kamatani Y,
|
||
Takata S,
|
||
Inai C,
|
||
Iwasaki Y,
|
||
Kumano M,
|
||
Murakami Y,
|
||
Omodaka K,
|
||
Abe T,
|
||
Komori S,
|
||
Gao D,
|
||
Hirakata T,
|
||
Kurata K,
|
||
Hosono K,
|
||
Ueno S,
|
||
Hotta Y,
|
||
Murakami A,
|
||
Terasaki H,
|
||
Wada Y,
|
||
Nakazawa T,
|
||
Ishibashi T,
|
||
Ikeda Y,
|
||
Kubo M,
|
||
Sonoda KH</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
2019 Oct;56(10):662-670.
|
||
Epub 2019 Jun 17
|
||
doi: 10.1136/jmedgenet-2018-105691.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31213501" target="_blank">31213501</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31054281">Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gao FJ,
|
||
Li JK,
|
||
Chen H,
|
||
Hu FY,
|
||
Zhang SH,
|
||
Qi YH,
|
||
Xu P,
|
||
Wang DD,
|
||
Wang LS,
|
||
Chang Q,
|
||
Zhang YJ,
|
||
Liu W,
|
||
Li W,
|
||
Wang M,
|
||
Chen F,
|
||
Xu GZ,
|
||
Wu JH</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2019 Nov;126(11):1549-1556.
|
||
Epub 2019 May 1
|
||
doi: 10.1016/j.ophtha.2019.04.038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31054281" target="_blank">31054281</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3618160">Pericentral retinal dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grøndahl J</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol (Copenh)</span>
|
||
1987 Jun;65(3):344-51.
|
||
doi: 10.1111/j.1755-3768.1987.tb08517.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3618160" target="_blank">3618160</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2065%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 (137)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39710900">Retinitis Pigmentosa and Therapeutic Candidates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Livingston CA,
|
||
Weng CY,
|
||
Chancellor JR</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol Clin</span>
|
||
2025 Jan 1;65(1):17-21.
|
||
Epub 2024 Dec 23
|
||
doi: 10.1097/IIO.0000000000000542.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39710900" target="_blank">39710900</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37030435">Corneal characteristics in patients with retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeki Fikret C,
|
||
Ucgun NI,
|
||
Karaca EE,
|
||
Evren Kemer O</span><br />
|
||
<span class="medgenPMjournal">Photodiagnosis Photodyn Ther</span>
|
||
2023 Jun;42:103554.
|
||
Epub 2023 Apr 6
|
||
doi: 10.1016/j.pdpdt.2023.103554.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37030435" target="_blank">37030435</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2065%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 (31)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37013444">Driving with retinitis pigmentosa.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/3618160">Pericentral retinal dystrophy.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2065%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 (71)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37440066">Environmental Light Has an Essential Effect on the Disease Expression in a Dominant RPE65 Mutation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wu W,
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<div class="nl"><a target="_blank" href="/pubmed/37013444">Driving with retinitis pigmentosa.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Heath Jeffery RC,
|
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Lo J,
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Thompson JA,
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Lamey TM,
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McLaren TL,
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DeRoach JN,
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Kabilio MS,
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Chen FK</span><br />
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<span class="medgenPMjournal">Ophthalmic Genet</span>
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2023 Aug;44(4):352-360.
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Epub 2023 Apr 4
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doi: 10.1080/13816810.2023.2196338.
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<span class="bold">PMID: </span><a href="/pubmed/37013444" target="_blank">37013444</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35726567">Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Poli G,
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Barravecchia I,
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Demontis GC,
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Sodi A,
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Saba A,
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Rizzo S,
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Macchia M,
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Tuccinardi T</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/35726567" target="_blank">35726567</a><a href="/pmc/articles/PMC9225791" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35503220">Artificial Intelligence for Screening of Multiple Retinal and Optic Nerve Diseases.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dong L,
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He W,
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Zhang R,
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Ge Z,
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Wang YX,
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Zhou J,
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Xu J,
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Shao L,
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Wang Q,
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Yan Y,
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Xie Y,
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Fang L,
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Wang H,
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Wang Y,
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Zhu X,
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Wang J,
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Zhang C,
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Wang H,
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Wang Y,
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Chen R,
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Wan Q,
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Yang J,
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Zhou W,
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Li H,
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Yao X,
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Yang Z,
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Xiong J,
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Wang X,
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Huang Y,
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Chen Y,
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Wang Z,
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Rong C,
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Gao J,
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Zhang H,
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Wu S,
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Jonas JB,
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doi: 10.1001/jamanetworkopen.2022.9960.
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<span class="bold">PMID: </span><a href="/pubmed/35503220" target="_blank">35503220</a><a href="/pmc/articles/PMC9066285" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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|
||
<div class="nl"><a target="_blank" href="/pubmed/34839010">Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Schneider N,
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Sundaresan Y,
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Gopalakrishnan P,
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Beryozkin A,
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Hanany M,
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Levanon EY,
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Banin E,
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<span class="bold">PMID: </span><a href="/pubmed/34839010" target="_blank">34839010</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2065%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 (88)</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_104">
|
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<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>
|
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/38459147">Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Junior JHMF,
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Junior SP,
|
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Pustilnik HN,
|
||
de Almeida Leão L,
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da Paz MGDS,
|
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Araujo TB,
|
||
de Deus FOG,
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||
Alcântara T,
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Dourado JC,
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de Avellar LM</span><br />
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<span class="medgenPMjournal">Childs Nerv Syst</span>
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2024 Jul;40(7):2161-2168.
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||
Epub 2024 Mar 9
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||
doi: 10.1007/s00381-024-06346-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38459147" target="_blank">38459147</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36633669">The use of augmented reality and virtual reality for visual field expansion and visual acuity improvement in low vision rehabilitation: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Pur DR,
|
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Lee-Wing N,
|
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Bona MD</span><br />
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<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
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2023 Jun;261(6):1743-1755.
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||
Epub 2023 Jan 12
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||
doi: 10.1007/s00417-022-05972-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36633669" target="_blank">36633669</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35098484">Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sallum JMF,
|
||
Kaur VP,
|
||
Shaikh J,
|
||
Banhazi J,
|
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Spera C,
|
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Aouadj C,
|
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Viriato D,
|
||
Fischer MD</span><br />
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<span class="medgenPMjournal">Adv Ther</span>
|
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2022 Mar;39(3):1179-1198.
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||
Epub 2022 Jan 30
|
||
doi: 10.1007/s12325-021-02036-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35098484" target="_blank">35098484</a><a href="/pmc/articles/PMC8918161" target="_blank" class="PubMedFree">Free PMC Article</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 class="nl"><a target="_blank" href="/pubmed/31409325">Systematic review and meta-synthesis of coping with retinitis pigmentosa: implications for improving quality of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garip G,
|
||
Kamal A</span><br />
|
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<span class="medgenPMjournal">BMC Ophthalmol</span>
|
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2019 Aug 13;19(1):181.
|
||
doi: 10.1186/s12886-019-1169-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31409325" target="_blank">31409325</a><a href="/pmc/articles/PMC6693213" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2065%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 (6)</a></div></div>
|
||
</div>
|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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_content ln"><ul><li><a href="/gtr/tests?term=C3552852%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3552852%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3552852%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Retinitis%20pigmentosa%2065" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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