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<meta name="keywords" content="C4225287, disease or syndrome, hgsnat, hgsnat retinitis pigmentosa, retinitis pigmentosa 73, retinitis pigmentosa caused by mutation in hgsnat, retinitis pigmentosa type 73, rp73, 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="Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=907690
|
||
ConceptID=C4225287
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Retinitis pigmentosa 73<span class="h1sub">(RP73)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>907690</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:">C4225287</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>RP73</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="HGSNAT - ID: 138050 - NCBI Gene" href="/gene/138050" class="medgenPMinfo">HGSNAT</a> (8p11.21-11.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014687" target="_blank">MONDO:0014687</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/616544" target="_blank">616544</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">Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</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_43219"><div><strong>Photopsia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43219</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.">C0085635</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Perceived flashes of light.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43219">Feature record</a> | <a href="/medgen?term=%22Photopsia%22%5BClinical%20Features%5D%20OR%2043219%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57750"><div><strong>Central scotoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57750</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.">C0152191</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An area of depressed vision located at the point of fixation and that interferes with central vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57750">Feature record</a> | <a href="/medgen?term=%22Central%20scotoma%22%5BClinical%20Features%5D%20OR%2057750%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115964"><div><strong>Color vision defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115964</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.">C0234629</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An anomaly in the ability to discriminate between or recognize colors.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115964">Feature record</a> | <a href="/medgen?term=%22Color%20vision%20defect%22%5BClinical%20Features%5D%20OR%20115964%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65889"><div><strong>Reduced visual acuity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65889</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.">C0234632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished clarity of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65889">Feature record</a> | <a href="/medgen?term=%22Reduced%20visual%20acuity%22%5BClinical%20Features%5D%20OR%2065889%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_87388"><div><strong>Preretinal fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>87388</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.">C0339543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/87388">Feature record</a> | <a href="/medgen?term=%22Preretinal%20fibrosis%22%5BClinical%20Features%5D%20OR%2087388%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_91020"><div><strong>Blurred vision</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91020</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.">C0344232</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of sharpness of vision resulting in the inability to see fine detail.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91020">Feature record</a> | <a href="/medgen?term=%22Blurred%20vision%22%5BClinical%20Features%5D%20OR%2091020%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140951"><div><strong>Ring scotoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140951</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.">C0438434</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An annular field defect centered on fixation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140951">Feature record</a> | <a href="/medgen?term=%22Ring%20scotoma%22%5BClinical%20Features%5D%20OR%20140951%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_101075"><div><strong>Retinal atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101075</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.">C0521694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/101075">Feature record</a> | <a href="/medgen?term=%22Retinal%20atrophy%22%5BClinical%20Features%5D%20OR%20101075%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108218"><div><strong>Optic disc pallor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108218</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.">C0554970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108218">Feature record</a> | <a href="/medgen?term=%22Optic%20disc%20pallor%22%5BClinical%20Features%5D%20OR%20108218%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323488"><div><strong>Geographic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323488</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.">C1536085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323488">Feature record</a> | <a href="/medgen?term=%22Geographic%20atrophy%22%5BClinical%20Features%5D%20OR%20323488%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_473480"><div><strong>Peripapillary atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>473480</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.">C1719838</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/473480">Feature record</a> | <a href="/medgen?term=%22Peripapillary%20atrophy%22%5BClinical%20Features%5D%20OR%20473480%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_323029"><div><strong>Bone spicule pigmentation of the retina</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>323029</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.">C1836926</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/323029">Feature record</a> | <a href="/medgen?term=%22Bone%20spicule%20pigmentation%20of%20the%20retina%22%5BClinical%20Features%5D%20OR%20323029%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854603"><div><strong>Visual field defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854603</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.">C3887875</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An absolute or relative reduction in the extent of the normal field of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854603">Feature record</a> | <a href="/medgen?term=%22Visual%20field%20defect%22%5BClinical%20Features%5D%20OR%20854603%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892788"><div><strong>Macular crystals</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892788</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.">C4072988</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Crystalline deposits in the macula.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892788">Feature record</a> | <a href="/medgen?term=%22Macular%20crystals%22%5BClinical%20Features%5D%20OR%20892788%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="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_91020" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Blurred vision</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_323029" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone spicule pigmentation of the retina</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central scotoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115964" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Color vision defect</a></span></li><li class="TLline">
|
||
<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_323488" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Geographic atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892788" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macular crystals</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_108218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic disc pallor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_473480" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripapillary atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43219" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Photopsia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_87388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Preretinal fibrosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced visual acuity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101075" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140951" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ring scotoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1632921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rod-cone dystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visual field defect</a></span></li></ul></li></ul></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/38108516">CRISPRi-Mediated Treatment of Dominant Rhodopsin-Associated Retinitis Pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burnight ER,
|
||
Wiley LA,
|
||
Mullin NK,
|
||
Adur MK,
|
||
Lang MJ,
|
||
Cranston CM,
|
||
Jiao C,
|
||
Russell SR,
|
||
Sohn EH,
|
||
Han IC,
|
||
Ross JW,
|
||
Stone EM,
|
||
Mullins RF,
|
||
Tucker BA</span><br />
|
||
<span class="medgenPMjournal">CRISPR J</span>
|
||
2023 Dec;6(6):502-513.
|
||
doi: 10.1089/crispr.2023.0039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38108516" target="_blank">38108516</a><a href="/pmc/articles/PMC11304754" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37466950">Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stephenson KAJ,
|
||
Whelan L,
|
||
Zhu J,
|
||
Dockery A,
|
||
Wynne NC,
|
||
Cairns RM,
|
||
Kirk C,
|
||
Turner J,
|
||
Duignan ES,
|
||
O'Byrne JJ,
|
||
Silvestri G,
|
||
Kenna PF,
|
||
Farrar GJ,
|
||
Keegan DJ</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2023 Jul 3;64(10):23.
|
||
doi: 10.1167/iovs.64.10.23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37466950" target="_blank">37466950</a><a href="/pmc/articles/PMC10362925" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2700165">The clinical utility of the foveal electroretinogram: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biersdorf WR</span><br />
|
||
<span class="medgenPMjournal">Doc Ophthalmol</span>
|
||
1989 Dec;73(4):313-25.
|
||
doi: 10.1007/BF00154487.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2700165" target="_blank">2700165</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(retinitis%20pigmentosa%2073)%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 (9)</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/35112343">Kidney failure in Bardet-Biedl syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Meyer JR,
|
||
Krentz AD,
|
||
Berg RL,
|
||
Richardson JG,
|
||
Pomeroy J,
|
||
Hebbring SJ,
|
||
Haws RM</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2022 Apr;101(4):429-441.
|
||
doi: 10.1111/cge.14119.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35112343" target="_blank">35112343</a><a href="/pmc/articles/PMC9311438" target="_blank" class="PubMedFree">Free PMC Article</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.
|
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Epub 2019 May 1
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doi: 10.1016/j.ophtha.2019.04.038.
|
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<span class="bold">PMID: </span><a href="/pubmed/31054281" target="_blank">31054281</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/26780318">Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Jiang F,
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Pan Z,
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Xu K,
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Tian L,
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Xie Y,
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Zhang X,
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Chen J,
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Dong B,
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<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
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2016 Jan 1;57(1):145-52.
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doi: 10.1167/iovs.15-18190.
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<span class="bold">PMID: </span><a href="/pubmed/26780318" target="_blank">26780318</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/26486417">Novel morphological macular findings in juvenile CLN3 disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dulz S,
|
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Wagenfeld L,
|
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Nickel M,
|
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Richard G,
|
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Schwartz R,
|
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Bartsch U,
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Kohlschütter A,
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Schulz A</span><br />
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<span class="medgenPMjournal">Br J Ophthalmol</span>
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2016 Jun;100(6):824-8.
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Epub 2015 Oct 20
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<span class="bold">PMID: </span><a href="/pubmed/26486417" target="_blank">26486417</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23755871">Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Riveiro-Alvarez R,
|
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Lopez-Martinez MA,
|
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Zernant J,
|
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Aguirre-Lamban J,
|
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Cantalapiedra D,
|
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Avila-Fernandez A,
|
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Gimenez A,
|
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Lopez-Molina MI,
|
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Garcia-Sandoval B,
|
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Blanco-Kelly F,
|
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Corton M,
|
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Tatu S,
|
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Fernandez-San Jose P,
|
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Trujillo-Tiebas MJ,
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Ramos C,
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Allikmets R,
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Ayuso C</span><br />
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<span class="medgenPMjournal">Ophthalmology</span>
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2013 Nov;120(11):2332-7.
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Epub 2013 Jun 4
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doi: 10.1016/j.ophtha.2013.04.002.
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<span class="bold">PMID: </span><a href="/pubmed/23755871" target="_blank">23755871</a><a href="/pmc/articles/PMC3808491" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2073%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 (90)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34948090">The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mansard L,
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Baux D,
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Vaché C,
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Blanchet C,
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Meunier I,
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Willems M,
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Faugère V,
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Baudoin C,
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Moclyn M,
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Bianchi J,
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Dollfus H,
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Gilbert-Dussardier B,
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Dupin-Deguine D,
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Bonneau D,
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Drumare I,
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Odent S,
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Zanlonghi X,
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Claustres M,
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Koenig M,
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Kalatzis V,
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Roux AF</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2021 Dec 10;22(24)
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doi: 10.3390/ijms222413294.
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<span class="bold">PMID: </span><a href="/pubmed/34948090" target="_blank">34948090</a><a href="/pmc/articles/PMC8703989" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gao FJ,
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Li JK,
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Chen H,
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Hu FY,
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Zhang SH,
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Qi YH,
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Xu P,
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Wang DD,
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Wang LS,
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Chang Q,
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Zhang YJ,
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Liu W,
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Li W,
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Wang M,
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Chen F,
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Xu GZ,
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Wu JH</span><br />
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<span class="medgenPMjournal">Ophthalmology</span>
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2019 Nov;126(11):1549-1556.
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Epub 2019 May 1
|
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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>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Jiang F,
|
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Pan Z,
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Xu K,
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Tian L,
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Xie Y,
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Zhang X,
|
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Chen J,
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Dong B,
|
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Li Y</span><br />
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<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
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2016 Jan 1;57(1):145-52.
|
||
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/23755871">Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riveiro-Alvarez R,
|
||
Lopez-Martinez MA,
|
||
Zernant J,
|
||
Aguirre-Lamban J,
|
||
Cantalapiedra D,
|
||
Avila-Fernandez A,
|
||
Gimenez A,
|
||
Lopez-Molina MI,
|
||
Garcia-Sandoval B,
|
||
Blanco-Kelly F,
|
||
Corton M,
|
||
Tatu S,
|
||
Fernandez-San Jose P,
|
||
Trujillo-Tiebas MJ,
|
||
Ramos C,
|
||
Allikmets R,
|
||
Ayuso C</span><br />
|
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<span class="medgenPMjournal">Ophthalmology</span>
|
||
2013 Nov;120(11):2332-7.
|
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Epub 2013 Jun 4
|
||
doi: 10.1016/j.ophtha.2013.04.002.
|
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<span class="bold">PMID: </span><a href="/pubmed/23755871" target="_blank">23755871</a><a href="/pmc/articles/PMC3808491" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2700165">The clinical utility of the foveal electroretinogram: a review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Biersdorf WR</span><br />
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<span class="medgenPMjournal">Doc Ophthalmol</span>
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1989 Dec;73(4):313-25.
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doi: 10.1007/BF00154487.
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<span class="bold">PMID: </span><a href="/pubmed/2700165" target="_blank">2700165</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2073%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 (98)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39103200">Long-term natural history of ellipsoid zone width in USH2A-retinopathy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Heyang M,
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Warren JL,
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Ocieczek P,
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Duncan JL,
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Moosajee M,
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Del Priore LV,
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Shen LL</span><br />
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<span class="medgenPMjournal">Br J Ophthalmol</span>
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2025 Feb 24;109(3):383-390.
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doi: 10.1136/bjo-2024-325323.
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<span class="bold">PMID: </span><a href="/pubmed/39103200" target="_blank">39103200</a><a href="/pmc/articles/PMC11866300" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/34948090">The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mansard L,
|
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Baux D,
|
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Vaché C,
|
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Blanchet C,
|
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Meunier I,
|
||
Willems M,
|
||
Faugère V,
|
||
Baudoin C,
|
||
Moclyn M,
|
||
Bianchi J,
|
||
Dollfus H,
|
||
Gilbert-Dussardier B,
|
||
Dupin-Deguine D,
|
||
Bonneau D,
|
||
Drumare I,
|
||
Odent S,
|
||
Zanlonghi X,
|
||
Claustres M,
|
||
Koenig M,
|
||
Kalatzis V,
|
||
Roux AF</span><br />
|
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2021 Dec 10;22(24)
|
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doi: 10.3390/ijms222413294.
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<span class="bold">PMID: </span><a href="/pubmed/34948090" target="_blank">34948090</a><a href="/pmc/articles/PMC8703989" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/34479901">Carbamazepine drug effect simulating biochemical central hypothyroidism in a patient with Bardet-Biedl syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kishlyansky D,
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Kline G</span><br />
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<span class="medgenPMjournal">BMJ Case Rep</span>
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2021 Sep 3;14(9)
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doi: 10.1136/bcr-2021-245018.
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<span class="bold">PMID: </span><a href="/pubmed/34479901" target="_blank">34479901</a><a href="/pmc/articles/PMC8420699" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/26503152">Modern drug delivery systems for targeting the posterior segment of the eye.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Peptu CA,
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Popa M,
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Savin C,
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Popa RF,
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Ochiuz L</span><br />
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<span class="medgenPMjournal">Curr Pharm Des</span>
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doi: 10.2174/1381612821666151027151847.
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<span class="bold">PMID: </span><a href="/pubmed/26503152" target="_blank">26503152</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/11217937">Sector retinitis pigmentosa with bitemporal visual field defects and macular hole.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Saperstein DA</span><br />
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<span class="medgenPMjournal">Retina</span>
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2001;21(1):73-4.
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doi: 10.1097/00006982-200102000-00016.
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<span class="bold">PMID: </span><a href="/pubmed/11217937" target="_blank">11217937</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2073%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 (15)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34948090">The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Mansard L,
|
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Baux D,
|
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Vaché C,
|
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Blanchet C,
|
||
Meunier I,
|
||
Willems M,
|
||
Faugère V,
|
||
Baudoin C,
|
||
Moclyn M,
|
||
Bianchi J,
|
||
Dollfus H,
|
||
Gilbert-Dussardier B,
|
||
Dupin-Deguine D,
|
||
Bonneau D,
|
||
Drumare I,
|
||
Odent S,
|
||
Zanlonghi X,
|
||
Claustres M,
|
||
Koenig M,
|
||
Kalatzis V,
|
||
Roux AF</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
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2021 Dec 10;22(24)
|
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doi: 10.3390/ijms222413294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34948090" target="_blank">34948090</a><a href="/pmc/articles/PMC8703989" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/30309714">CKD Due to a Novel Mitochondrial DNA Mutation: A Case Report.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fervenza FC,
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Gavrilova RH,
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Nasr SH,
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Irazabal MV,
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Nath KA</span><br />
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<span class="medgenPMjournal">Am J Kidney Dis</span>
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2019 Feb;73(2):273-277.
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Epub 2018 Oct 8
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<span class="bold">PMID: </span><a href="/pubmed/30309714" target="_blank">30309714</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/26780318">Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang F,
|
||
Pan Z,
|
||
Xu K,
|
||
Tian L,
|
||
Xie Y,
|
||
Zhang X,
|
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Chen J,
|
||
Dong B,
|
||
Li Y</span><br />
|
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<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
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2016 Jan 1;57(1):145-52.
|
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doi: 10.1167/iovs.15-18190.
|
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<span class="bold">PMID: </span><a href="/pubmed/26780318" target="_blank">26780318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26486417">Novel morphological macular findings in juvenile CLN3 disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dulz S,
|
||
Wagenfeld L,
|
||
Nickel M,
|
||
Richard G,
|
||
Schwartz R,
|
||
Bartsch U,
|
||
Kohlschütter A,
|
||
Schulz A</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2016 Jun;100(6):824-8.
|
||
Epub 2015 Oct 20
|
||
doi: 10.1136/bjophthalmol-2015-307320.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26486417" target="_blank">26486417</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23755871">Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riveiro-Alvarez R,
|
||
Lopez-Martinez MA,
|
||
Zernant J,
|
||
Aguirre-Lamban J,
|
||
Cantalapiedra D,
|
||
Avila-Fernandez A,
|
||
Gimenez A,
|
||
Lopez-Molina MI,
|
||
Garcia-Sandoval B,
|
||
Blanco-Kelly F,
|
||
Corton M,
|
||
Tatu S,
|
||
Fernandez-San Jose P,
|
||
Trujillo-Tiebas MJ,
|
||
Ramos C,
|
||
Allikmets R,
|
||
Ayuso C</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2013 Nov;120(11):2332-7.
|
||
Epub 2013 Jun 4
|
||
doi: 10.1016/j.ophtha.2013.04.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23755871" target="_blank">23755871</a><a href="/pmc/articles/PMC3808491" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2073%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 (45)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39103200">Long-term natural history of ellipsoid zone width in USH2A-retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heyang M,
|
||
Warren JL,
|
||
Ocieczek P,
|
||
Duncan JL,
|
||
Moosajee M,
|
||
Del Priore LV,
|
||
Shen LL</span><br />
|
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<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2025 Feb 24;109(3):383-390.
|
||
doi: 10.1136/bjo-2024-325323.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39103200" target="_blank">39103200</a><a href="/pmc/articles/PMC11866300" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/33958698">Development and validation of a visual field cluster in retinitis pigmentosa.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Omoto T,
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Oishi A,
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Asaoka R,
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Fujino Y,
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Murata H,
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Azuma K,
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Miyata M,
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<span class="bold">PMID: </span><a href="/pubmed/33958698" target="_blank">33958698</a><a href="/pmc/articles/PMC8102544" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30307515">Defining renal phenotype in Alström syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Baig S,
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Paisey R,
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Dawson C,
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Barrett T,
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Maffei P,
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Hodson J,
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Rambhatla SB,
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Chauhan P,
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Bolton S,
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Dassie F,
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Francomano C,
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Marshall RP,
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Belal M,
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<span class="bold">PMID: </span><a href="/pubmed/30307515" target="_blank">30307515</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27919611">Discovery of 4-sulfamoyl-phenyl-β-lactams as a new class of potent carbonic anhydrase isoforms I, II, IV and VII inhibitors: The first example of subnanomolar CA IV inhibitors.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Angapelly S,
|
||
Ramya PV,
|
||
Angeli A,
|
||
Monti SM,
|
||
Buonanno M,
|
||
Alvala M,
|
||
Supuran CT,
|
||
Arifuddin M</span><br />
|
||
<span class="medgenPMjournal">Bioorg Med Chem</span>
|
||
2017 Jan 15;25(2):539-544.
|
||
Epub 2016 Nov 19
|
||
doi: 10.1016/j.bmc.2016.11.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27919611" target="_blank">27919611</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10438872">Rescue from photoreceptor degeneration in the rd mouse by human immunodeficiency virus vector-mediated gene transfer.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takahashi M,
|
||
Miyoshi H,
|
||
Verma IM,
|
||
Gage FH</span><br />
|
||
<span class="medgenPMjournal">J Virol</span>
|
||
1999 Sep;73(9):7812-6.
|
||
doi: 10.1128/JVI.73.9.7812-7816.1999.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10438872" target="_blank">10438872</a><a href="/pmc/articles/PMC104309" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinitis%20pigmentosa%2073%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 (62)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4225287%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (1)</a></li>
|
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<li><a href="/gtr/tests?term=C4225287%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (21)</a></li>
|
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<li><a href="/gtr/tests?term=C4225287%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (21)</a></li>
|
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<li><a href="/gtr/tests?term=C4225287%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4225287%5bDISCUI%5d" target="_blank">See all (26)</a></total></li>
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