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<!--
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UID=99273
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ConceptID=C0521683
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Chorioretinal degeneration</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99273</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.">C0521683</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td><span class="bold">SNOMED CT: </span></td>
|
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<td>Chorioretinal degeneration (247177004)</td></tr>
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0200065">HP:0200065</a></td></tr>
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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="matched_ds"><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 unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Chorioretinal degeneration</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/868526" ref="tree=MeSH" title="MedGen record for Abnormal eye morphology">Abnormal eye morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870893" ref="tree=MeSH" title="MedGen record for Abnormal posterior eye segment morphology">Abnormal posterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871316" ref="tree=MeSH" title="MedGen record for Abnormal fundus morphology">Abnormal fundus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892839" ref="tree=MeSH" title="MedGen record for Abnormal choroid morphology">Abnormal choroid morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871350" ref="tree=MeSH" title="MedGen record for Abnormal chorioretinal morphology">Abnormal chorioretinal morphology</a></span><ul><li><span class="matched_ds">Chorioretinal degeneration</span><ul><li><span class="TLline"><a href="/medgen/884881" ref="tree=MeSH" title="MedGen record for Chorioretinal atrophy">Chorioretinal atrophy</a></span><ul><li><span class="TLline"><a href="/medgen/477389" ref="tree=MeSH" title="MedGen record for Choriocapillaris atrophy">Choriocapillaris atrophy</a></span></li><li><span class="TLline"><a href="/medgen/893102" ref="tree=MeSH" title="MedGen record for Paravenous chorioretinal atrophy">Paravenous chorioretinal atrophy</a></span></li><li><span class="TLline"><a href="/medgen/870322" ref="tree=MeSH" title="MedGen record for Peripapillary chorioretinal atrophy">Peripapillary chorioretinal atrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/40279" ref="tree=MeSH" title="MedGen record for Chorioretinal scar">Chorioretinal scar</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_944"><div><strong>Choroideremia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>944</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:">C0008525</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Choroideremia (CHM) is characterized by progressive chorioretinal degeneration in affected males and milder signs in heterozygous (carrier) females. Typically, symptoms in affected males evolve from night blindness to peripheral visual field loss, with central vision preserved until late in life. Although carrier females are generally asymptomatic, signs of chorioretinal degeneration can be reliably observed with fundus autofluorescence imaging, and – after age 25 years – with careful fundus examination.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/944">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_333305"><div><strong>Retinitis pigmentosa 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333305</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.">C1839368</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A retinitis pigmentosa that has material basis in variation in the chromosome region Xp21.3-p21.2.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333305">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_326916"><div><strong>Ophthalmoplegia, external, and myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326916</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.">C1839577</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326916">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344198"><div><strong>Late-onset retinal degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344198</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.">C1854065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Late-onset retinal degeneration (LORD) is an autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy (Hayward et al., 2003).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344198">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_394544"><div><strong>Retinitis pigmentosa 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>394544</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.">C2681923</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/394544">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481571"><div><strong>Stickler syndrome, type 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481571</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.">C3279941</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Pierre Robin sequence); and early-onset degenerative joint disease. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481571">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_763933"><div><strong>Choroideremia-deafness-obesity syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>763933</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.">C3551019</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/763933">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815897"><div><strong>Microcornea-myopic chorioretinal atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815897</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.">C3809567</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815897">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_899389"><div><strong>Intellectual disability, autosomal dominant 33</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899389</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.">C4225375</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/899389">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_944" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choroideremia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_763933" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choroideremia-deafness-obesity syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_899389" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, autosomal dominant 33</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Late-onset retinal degeneration</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815897" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcornea-myopic chorioretinal atrophy</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (9)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_326916" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ophthalmoplegia, external, and myopia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_394544" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_333305" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481571" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stickler syndrome, type 4</a></div></span></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/7970511">Management of retinal detachment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schepens CL</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Surg</span>
|
||
1994 Jul;25(7):427-31.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7970511" target="_blank">7970511</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22chorioretinal%20degeneration%22%5Btiab%3A~0%5D)%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 (1)</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/33539717">Multimodal Imaging of a Severe Case of Neonatal Acute Retinal Necrosis and Lens Vacuoles Associated with Herpes Simplex Virus Infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kinoshita T,
|
||
Hatanaka A,
|
||
Mori J,
|
||
Akaiwa K,
|
||
Imaizumi H</span><br />
|
||
<span class="medgenPMjournal">Ocul Immunol Inflamm</span>
|
||
2022 May 19;30(4):1009-1015.
|
||
Epub 2021 Feb 4
|
||
doi: 10.1080/09273948.2020.1841803.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33539717" target="_blank">33539717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28005674">DIDANOSINE RETINAL TOXICITY.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haug SJ,
|
||
Wong RW,
|
||
Day S,
|
||
Choudhry N,
|
||
Sneed S,
|
||
Prasad P,
|
||
Read S,
|
||
McDonald RH,
|
||
Agarwal A,
|
||
Davis J,
|
||
Sarraf D</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2016 Dec;36 Suppl 1:S159-S167.
|
||
doi: 10.1097/IAE.0000000000001267.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28005674" target="_blank">28005674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27488065">Myopia Genetics-The Asia-Pacific Perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rong SS,
|
||
Chen LJ,
|
||
Pang CP</span><br />
|
||
<span class="medgenPMjournal">Asia Pac J Ophthalmol (Phila)</span>
|
||
2016 Jul-Aug;5(4):236-44.
|
||
doi: 10.1097/APO.0000000000000224.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27488065" target="_blank">27488065</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10340793">Extensive chorioretinal atrophy in Vogt-Koyanagi-Harada disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sonoda S,
|
||
Nakao K,
|
||
Ohba N</span><br />
|
||
<span class="medgenPMjournal">Jpn J Ophthalmol</span>
|
||
1999 Mar-Apr;43(2):113-9.
|
||
doi: 10.1016/s0021-5155(98)00066-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10340793" target="_blank">10340793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3675284">Complications of clear lens extraction in axial myopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodriguez A,
|
||
Gutierrez E,
|
||
Alvira G</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1987 Nov;105(11):1522-3.
|
||
doi: 10.1001/archopht.1987.01060110068033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3675284" target="_blank">3675284</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chorioretinal%20degeneration%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 (37)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33864784">Novel TEAD1 gene variant in a Serbian family with Sveinsson's chorioretinal atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grubisa I,
|
||
Jankovic M,
|
||
Nikolic N,
|
||
Jaksic V,
|
||
Risimic D,
|
||
Mavija M,
|
||
Stamenkovic M,
|
||
Zlatovic M,
|
||
Milasin J</span><br />
|
||
<span class="medgenPMjournal">Exp Eye Res</span>
|
||
2021 Jun;207:108575.
|
||
Epub 2021 Apr 14
|
||
doi: 10.1016/j.exer.2021.108575.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33864784" target="_blank">33864784</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29049677">Sveinsson Chorioretinal Atrophy: Helicoid Peripapillary Chorioretinal Degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumar V,
|
||
Trehan H,
|
||
Goel N</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2017 Oct 12;135(10):e173236.
|
||
doi: 10.1001/jamaophthalmol.2017.3236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29049677" target="_blank">29049677</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24491012">Pityriasis alba with poliosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malik TG,
|
||
Khalil M,
|
||
Bhatti MM</span><br />
|
||
<span class="medgenPMjournal">J Coll Physicians Surg Pak</span>
|
||
2014 Feb;24(2):138-40.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24491012" target="_blank">24491012</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15225095">Choroideremia gene testing.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">MacDonald IM,
|
||
Sereda C,
|
||
McTaggart K,
|
||
Mah D</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Mol Diagn</span>
|
||
2004 Jul;4(4):478-84.
|
||
doi: 10.1586/14737159.4.4.478.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15225095" target="_blank">15225095</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5659901">Radial perivascular chorioretinal degeneration and retinal detachment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hagler WS,
|
||
Crosswell HH Jr</span><br />
|
||
<span class="medgenPMjournal">Trans Am Acad Ophthalmol Otolaryngol</span>
|
||
1968 Mar-Apr;72(2):203-16.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5659901" target="_blank">5659901</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chorioretinal%20degeneration%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 (56)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31436215">Coastline like peripheral chorioretinal degeneration as a suspected cause of nasal retinal dialysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sundar D,
|
||
Sharma A,
|
||
Chawla R,
|
||
Hasan N</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2019 Sep;67(9):1500-1502.
|
||
doi: 10.4103/ijo.IJO_167_19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31436215" target="_blank">31436215</a><a href="/pmc/articles/PMC6727708" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28005674">DIDANOSINE RETINAL TOXICITY.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haug SJ,
|
||
Wong RW,
|
||
Day S,
|
||
Choudhry N,
|
||
Sneed S,
|
||
Prasad P,
|
||
Read S,
|
||
McDonald RH,
|
||
Agarwal A,
|
||
Davis J,
|
||
Sarraf D</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2016 Dec;36 Suppl 1:S159-S167.
|
||
doi: 10.1097/IAE.0000000000001267.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28005674" target="_blank">28005674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8719698">Progression of myopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kennedy RH</span><br />
|
||
<span class="medgenPMjournal">Trans Am Ophthalmol Soc</span>
|
||
1995;93:755-800.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8719698" target="_blank">8719698</a><a href="/pmc/articles/PMC1312077" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7355975">Clinical and biochemical heterogeneity in gyrate atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaiser-Kupfer MI,
|
||
Valle D,
|
||
Bron AJ</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1980 Feb;89(2):219-22.
|
||
doi: 10.1016/0002-9394(80)90114-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7355975" target="_blank">7355975</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4694396">Unusual chorioretinal degeneration in sickle cell disease. Possible sequelae of posterior ciliary vessel occlusion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Condon PI,
|
||
Serjeant GR,
|
||
Ikeda H</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
1973 Feb;57(2):81-8.
|
||
doi: 10.1136/bjo.57.2.81.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4694396" target="_blank">4694396</a><a href="/pmc/articles/PMC1214861" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chorioretinal%20degeneration%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 (25)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/21633710">Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aggarwal S,
|
||
Jinda W,
|
||
Limwongse C,
|
||
Atchaneeyasakul LO,
|
||
Phadke SR</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
2011;17:1305-9.
|
||
Epub 2011 May 7
|
||
<span class="bold">PMID: </span><a href="/pubmed/21633710" target="_blank">21633710</a><a href="/pmc/articles/PMC3103739" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10340793">Extensive chorioretinal atrophy in Vogt-Koyanagi-Harada disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sonoda S,
|
||
Nakao K,
|
||
Ohba N</span><br />
|
||
<span class="medgenPMjournal">Jpn J Ophthalmol</span>
|
||
1999 Mar-Apr;43(2):113-9.
|
||
doi: 10.1016/s0021-5155(98)00066-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10340793" target="_blank">10340793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9415309">Ornithine-delta-aminotransferase expression and ornithine metabolism in cultured epidermal keratinocytes: toward metabolic sink therapy for gyrate atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan DM,
|
||
Jensen TG,
|
||
Taichman LB,
|
||
Csaky KG</span><br />
|
||
<span class="medgenPMjournal">Gene Ther</span>
|
||
1997 Oct;4(10):1036-44.
|
||
doi: 10.1038/sj.gt.3300505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9415309" target="_blank">9415309</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8719698">Progression of myopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kennedy RH</span><br />
|
||
<span class="medgenPMjournal">Trans Am Ophthalmol Soc</span>
|
||
1995;93:755-800.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8719698" target="_blank">8719698</a><a href="/pmc/articles/PMC1312077" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6084222">Natural history of choroidal neovascularization in degenerative myopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Avila MP,
|
||
Weiter JJ,
|
||
Jalkh AE,
|
||
Trempe CL,
|
||
Pruett RC,
|
||
Schepens CL</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
1984 Dec;91(12):1573-81.
|
||
doi: 10.1016/s0161-6420(84)34116-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6084222" target="_blank">6084222</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chorioretinal%20degeneration%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 (31)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28005674">DIDANOSINE RETINAL TOXICITY.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haug SJ,
|
||
Wong RW,
|
||
Day S,
|
||
Choudhry N,
|
||
Sneed S,
|
||
Prasad P,
|
||
Read S,
|
||
McDonald RH,
|
||
Agarwal A,
|
||
Davis J,
|
||
Sarraf D</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2016 Dec;36 Suppl 1:S159-S167.
|
||
doi: 10.1097/IAE.0000000000001267.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28005674" target="_blank">28005674</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15016762">A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fossdal R,
|
||
Jonasson F,
|
||
Kristjansdottir GT,
|
||
Kong A,
|
||
Stefansson H,
|
||
Gosh S,
|
||
Gulcher JR,
|
||
Stefansson K</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2004 May 1;13(9):975-81.
|
||
Epub 2004 Mar 11
|
||
doi: 10.1093/hmg/ddh106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15016762" target="_blank">15016762</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10340793">Extensive chorioretinal atrophy in Vogt-Koyanagi-Harada disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sonoda S,
|
||
Nakao K,
|
||
Ohba N</span><br />
|
||
<span class="medgenPMjournal">Jpn J Ophthalmol</span>
|
||
1999 Mar-Apr;43(2):113-9.
|
||
doi: 10.1016/s0021-5155(98)00066-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10340793" target="_blank">10340793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9415309">Ornithine-delta-aminotransferase expression and ornithine metabolism in cultured epidermal keratinocytes: toward metabolic sink therapy for gyrate atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan DM,
|
||
Jensen TG,
|
||
Taichman LB,
|
||
Csaky KG</span><br />
|
||
<span class="medgenPMjournal">Gene Ther</span>
|
||
1997 Oct;4(10):1036-44.
|
||
doi: 10.1038/sj.gt.3300505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9415309" target="_blank">9415309</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2220818">Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McClatchey AI,
|
||
Kaufman DL,
|
||
Berson EL,
|
||
Tobin AJ,
|
||
Shih VE,
|
||
Gusella JF,
|
||
Ramesh V</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1990 Nov;47(5):790-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2220818" target="_blank">2220818</a><a href="/pmc/articles/PMC1683684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Chorioretinal%20degeneration%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 (31)</a></div></div>
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