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<meta name="keywords" content="C1846529, cone-rod dystrophy 10, cone-rod dystrophy caused by mutation in sema4a, cone-rod dystrophy type 10, cord10, disease or syndrome, sema4a, sema4a cone-rod dystrophy, 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="Cone-rod dystrophy-10 (CORD10) is characterized by progressive loss of visual acuity and color vision, followed by night blindness and loss of peripheral vision. Patients may experience photophobia and epiphora in bright light (Abid et al., 2006). Mutation in SEMA4A can also cause a form of retinitis pigmentosa (RP35; 610282). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=337598
|
||
ConceptID=C1846529
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cone-rod dystrophy 10<span class="h1sub">(CORD10)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>337598</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:">C1846529</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>CORD10</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="SEMA4A - ID: 64218 - NCBI Gene" href="/gene/64218" class="medgenPMinfo">SEMA4A</a> (1q22)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012464" target="_blank">MONDO:0012464</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/610283" target="_blank">610283</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">Cone-rod dystrophy-10 (CORD10) is characterized by progressive loss of visual acuity and color vision, followed by night blindness and loss of peripheral vision. Patients may experience photophobia and epiphora in bright light (Abid et al., 2006). Mutation in SEMA4A can also cause a form of retinitis pigmentosa (RP35; 610282). For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy, see 120970. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.<br /><br />The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).<br /><br />There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body. <a target="_blank" href="https://medlineplus.gov/genetics/condition/cone-rod-dystrophy">https://medlineplus.gov/genetics/condition/cone-rod-dystrophy</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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_43220"><div><strong>Photophobia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43220</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.">C0085636</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43220">Feature record</a> | <a href="/medgen?term=%22Photophobia%22%5BClinical%20Features%5D%20OR%2043220%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_7434"><div><strong>Macular degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7434</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.">C0024437</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/7434">Feature record</a> | <a href="/medgen?term=%22Macular%20degeneration%22%5BClinical%20Features%5D%20OR%207434%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_57518"><div><strong>Epiphora</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57518</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.">C0152227</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormally increased lacrimation, that is, excessive tearing (watering eye).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57518">Feature record</a> | <a href="/medgen?term=%22Epiphora%22%5BClinical%20Features%5D%20OR%2057518%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116124"><div><strong>Peripheral visual field loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116124</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.">C0241688</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116124">Feature record</a> | <a href="/medgen?term=%22Peripheral%20visual%20field%20loss%22%5BClinical%20Features%5D%20OR%20116124%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_326867"><div><strong>Progressive visual loss</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326867</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.">C1839364</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction of previously attained ability to see.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326867">Feature record</a> | <a href="/medgen?term=%22Progressive%20visual%20loss%22%5BClinical%20Features%5D%20OR%20326867%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_480605"><div><strong>Attenuation of retinal blood vessels</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>480605</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3278975</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/480605">Feature record</a> | <a href="/medgen?term=%22Attenuation%20of%20retinal%20blood%20vessels%22%5BClinical%20Features%5D%20OR%20480605%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><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_480605" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attenuation of retinal blood vessels</a></span></li><li class="TLline">
|
||
<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_57518" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epiphora</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7434" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macular degeneration</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_116124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral visual field loss</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326867" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive visual loss</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1632921" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Rod-cone dystrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43220" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Photophobia</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/34048777">Novel variants in GUCY2D causing retinopathy and the genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yi Z,
|
||
Sun W,
|
||
Xiao X,
|
||
Li S,
|
||
Jia X,
|
||
Li X,
|
||
Yu B,
|
||
Wang P,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">Exp Eye Res</span>
|
||
2021 Jul;208:108637.
|
||
Epub 2021 May 26
|
||
doi: 10.1016/j.exer.2021.108637.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34048777" target="_blank">34048777</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32533067">Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujinami-Yokokawa Y,
|
||
Fujinami K,
|
||
Kuniyoshi K,
|
||
Hayashi T,
|
||
Ueno S,
|
||
Mizota A,
|
||
Shinoda K,
|
||
Arno G,
|
||
Pontikos N,
|
||
Yang L,
|
||
Liu X,
|
||
Sakuramoto H,
|
||
Katagiri S,
|
||
Mizobuchi K,
|
||
Kominami T,
|
||
Terasaki H,
|
||
Nakamura N,
|
||
Kameya S,
|
||
Yoshitake K,
|
||
Miyake Y,
|
||
Kurihara T,
|
||
Tsubota K,
|
||
Miyata H,
|
||
Iwata T,
|
||
Tsunoda K;
|
||
Japan Eye Genetics Consortium</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2020 Jun 12;10(1):9531.
|
||
doi: 10.1038/s41598-020-65737-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32533067" target="_blank">32533067</a><a href="/pmc/articles/PMC7293272" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26103963">Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boulanger-Scemama E,
|
||
El Shamieh S,
|
||
Démontant V,
|
||
Condroyer C,
|
||
Antonio A,
|
||
Michiels C,
|
||
Boyard F,
|
||
Saraiva JP,
|
||
Letexier M,
|
||
Souied E,
|
||
Mohand-Saïd S,
|
||
Sahel JA,
|
||
Zeitz C,
|
||
Audo I</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2015 Jun 24;10:85.
|
||
doi: 10.1186/s13023-015-0300-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26103963" target="_blank">26103963</a><a href="/pmc/articles/PMC4566196" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cone-rod%20dystrophy%2010)%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/33847019">CNGB1-related rod-cone dystrophy: A mutation review and update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nassisi M,
|
||
Smirnov VM,
|
||
Solis Hernandez C,
|
||
Mohand-Saïd S,
|
||
Condroyer C,
|
||
Antonio A,
|
||
Kühlewein L,
|
||
Kempf M,
|
||
Kohl S,
|
||
Wissinger B,
|
||
Nasser F,
|
||
Ragi SD,
|
||
Wang NK,
|
||
Sparrow JR,
|
||
Greenstein VC,
|
||
Michalakis S,
|
||
Mahroo OA,
|
||
Ba-Abbad R,
|
||
Michaelides M,
|
||
Webster AR,
|
||
Degli Esposti S,
|
||
Saffren B,
|
||
Capasso J,
|
||
Levin A,
|
||
Hauswirth WW,
|
||
Dhaenens CM,
|
||
Defoort-Dhellemmes S,
|
||
Tsang SH,
|
||
Zrenner E,
|
||
Sahel JA,
|
||
Petersen-Jones SM,
|
||
Zeitz C,
|
||
Audo I</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2021 Jun;42(6):641-666.
|
||
Epub 2021 May 16
|
||
doi: 10.1002/humu.24205.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33847019" target="_blank">33847019</a><a href="/pmc/articles/PMC8218941" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33136666">Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rajabian F,
|
||
Manitto MP,
|
||
Palombo F,
|
||
Caporali L,
|
||
Grazioli A,
|
||
Starace V,
|
||
Arrigo A,
|
||
Cascavilla ML,
|
||
La Morgia C,
|
||
Barboni P,
|
||
Bandello F,
|
||
Carelli V,
|
||
Battaglia Parodi M</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2021 Sep 1;41(3):e290-e292.
|
||
doi: 10.1097/WNO.0000000000001124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33136666" target="_blank">33136666</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31630094">Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xu K,
|
||
Xie Y,
|
||
Sun T,
|
||
Zhang X,
|
||
Chen C,
|
||
Li Y</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2020 Jul;104(7):932-937.
|
||
Epub 2019 Oct 19
|
||
doi: 10.1136/bjophthalmol-2019-314281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31630094" target="_blank">31630094</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30578505">Ciliopathy: Usher Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsang SH,
|
||
Aycinena ARP,
|
||
Sharma T</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2018;1085:167-170.
|
||
doi: 10.1007/978-3-319-95046-4_32.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30578505" target="_blank">30578505</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=%22Cone-rod%20dystrophy%2010%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 (105)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37806543">RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Georgiou M,
|
||
Fujinami K,
|
||
Robson AG,
|
||
Fujinami-Yokokawa Y,
|
||
Shakarchi AF,
|
||
Ji MH,
|
||
Uwaydat SH,
|
||
Kim A,
|
||
Kolesnikova M,
|
||
Arno G,
|
||
Pontikos N,
|
||
Mahroo OA,
|
||
Tsang SH,
|
||
Webster AR,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Feb;258:119-129.
|
||
Epub 2023 Oct 7
|
||
doi: 10.1016/j.ajo.2023.09.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37806543" target="_blank">37806543</a><a href="/pmc/articles/PMC11139644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33136666">Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rajabian F,
|
||
Manitto MP,
|
||
Palombo F,
|
||
Caporali L,
|
||
Grazioli A,
|
||
Starace V,
|
||
Arrigo A,
|
||
Cascavilla ML,
|
||
La Morgia C,
|
||
Barboni P,
|
||
Bandello F,
|
||
Carelli V,
|
||
Battaglia Parodi M</span><br />
|
||
<span class="medgenPMjournal">J Neuroophthalmol</span>
|
||
2021 Sep 1;41(3):e290-e292.
|
||
doi: 10.1097/WNO.0000000000001124.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33136666" target="_blank">33136666</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32879782">Electrophysiological and Pupillometric Abnormalities in PROM1 Cone-Rod Dystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Park JC,
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<div class="nl"><a target="_blank" href="/pubmed/31567747">Leber congenital amaurosis in a young female.</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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<span class="medgenPMjournal">Ophthalmology</span>
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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=%22Cone-rod%20dystrophy%2010%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 (144)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39699888">Assessing Contrast Sensitivity Function in CRB1-Retinopathies: Exploring Child-Friendly Measures of Visual Function.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36420660">Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q(10) deficiency.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/36420660" target="_blank">36420660</a><a href="/pmc/articles/PMC10205914" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33039401">Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Casalino G,
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Khan KN,
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Armengol M,
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Wright G,
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<div class="nl"><a target="_blank" href="/pubmed/30381411">Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7.</a></div>
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<span class="medgenPMjournal">Sci Transl Med</span>
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<span class="bold">PMID: </span><a href="/pubmed/30381411" target="_blank">30381411</a><a href="/pmc/articles/PMC6411060" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30064895">Retained Plasticity and Substantial Recovery of Rod-Mediated Visual Acuity at the Visual Cortex in Blind Adult Mice with Retinal Dystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Nishiguchi KM,
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Fujita K,
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Tokashiki N,
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Komamura H,
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Takemoto-Kimura S,
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<span class="bold">PMID: </span><a href="/pubmed/30064895" target="_blank">30064895</a><a href="/pmc/articles/PMC6171050" 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=%22Cone-rod%20dystrophy%2010%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 (13)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37806543">RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Georgiou M,
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Fujinami K,
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Robson AG,
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Fujinami-Yokokawa Y,
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Shakarchi AF,
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Ji MH,
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Uwaydat SH,
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Kim A,
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Kolesnikova M,
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Arno G,
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Pontikos N,
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Mahroo OA,
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Tsang SH,
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<span class="bold">PMID: </span><a href="/pubmed/37806543" target="_blank">37806543</a><a href="/pmc/articles/PMC11139644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35627310">Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Malechka VV,
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Cukras CA,
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Chew EY,
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Sergeev YV,
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Blain D,
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Jeffrey BG,
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Ullah E,
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Hufnagel RB,
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Brooks BP,
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Huryn LA,
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Zein WM</span><br />
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<span class="medgenPMjournal">Genes (Basel)</span>
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2022 May 22;13(5)
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<span class="bold">PMID: </span><a href="/pubmed/35627310" target="_blank">35627310</a><a href="/pmc/articles/PMC9140808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33691693">Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Ma DJ,
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Lee HS,
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Kim K,
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Choi S,
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Jang I,
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Cho SH,
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Yoon CK,
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<span class="bold">PMID: </span><a href="/pubmed/33691693" target="_blank">33691693</a><a href="/pmc/articles/PMC7945660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33136666">Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rajabian F,
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Manitto MP,
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Palombo F,
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Caporali L,
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Grazioli A,
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Starace V,
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Arrigo A,
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Cascavilla ML,
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La Morgia C,
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Barboni P,
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Bandello F,
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|
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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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Riveiro-Alvarez R,
|
||
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,
|
||
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=%22Cone-rod%20dystrophy%2010%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 (62)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38522724">IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sen S,
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Fabozzi L,
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Fujinami K,
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Fujinami-Yokokawa YU,
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Wright GA,
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Webster A,
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Mahroo O,
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Robson AG,
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Georgiou M,
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Michaelides M</span><br />
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<span class="medgenPMjournal">Am J Ophthalmol</span>
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2024 Aug;264:205-215.
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<span class="bold">PMID: </span><a href="/pubmed/38522724" target="_blank">38522724</a><a href="/pmc/articles/PMC11752837" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38309476">A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fenner BJ,
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Whitmore SS,
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DeLuca AP,
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Andorf JL,
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Daggett HT,
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Luse MA,
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Haefeli LM,
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Riley JB,
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Critser DB,
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Wilkinson ME,
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Dumitrescu AV,
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Drack AV,
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Boyce TM,
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Russell JF,
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Binkley EM,
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Sohn EH,
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Russell SR,
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Boldt HC,
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Mullins RF,
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Tucker BA,
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Scheetz TE,
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Han IC,
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Stone EM</span><br />
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<span class="medgenPMjournal">Ophthalmology</span>
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2024 Aug;131(8):985-997.
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<span class="bold">PMID: </span><a href="/pubmed/38309476" target="_blank">38309476</a><a href="/pmc/articles/PMC11398085" 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/37806543">RBP3-Retinopathy-Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Georgiou M,
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Fujinami K,
|
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Robson AG,
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Fujinami-Yokokawa Y,
|
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Shakarchi AF,
|
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Ji MH,
|
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Uwaydat SH,
|
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Kim A,
|
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Kolesnikova M,
|
||
Arno G,
|
||
Pontikos N,
|
||
Mahroo OA,
|
||
Tsang SH,
|
||
Webster AR,
|
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Michaelides M</span><br />
|
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<span class="medgenPMjournal">Am J Ophthalmol</span>
|
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2024 Feb;258:119-129.
|
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Epub 2023 Oct 7
|
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doi: 10.1016/j.ajo.2023.09.025.
|
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<span class="bold">PMID: </span><a href="/pubmed/37806543" target="_blank">37806543</a><a href="/pmc/articles/PMC11139644" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35627310">Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malechka VV,
|
||
Cukras CA,
|
||
Chew EY,
|
||
Sergeev YV,
|
||
Blain D,
|
||
Jeffrey BG,
|
||
Ullah E,
|
||
Hufnagel RB,
|
||
Brooks BP,
|
||
Huryn LA,
|
||
Zein WM</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2022 May 22;13(5)
|
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doi: 10.3390/genes13050925.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35627310" target="_blank">35627310</a><a href="/pmc/articles/PMC9140808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33691693">Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma DJ,
|
||
Lee HS,
|
||
Kim K,
|
||
Choi S,
|
||
Jang I,
|
||
Cho SH,
|
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Yoon CK,
|
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Lee EK,
|
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Yu HG</span><br />
|
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<span class="medgenPMjournal">BMC Med Genomics</span>
|
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2021 Mar 10;14(1):74.
|
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doi: 10.1186/s12920-021-00874-6.
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<span class="bold">PMID: </span><a href="/pubmed/33691693" target="_blank">33691693</a><a href="/pmc/articles/PMC7945660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cone-rod%20dystrophy%2010%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 (95)</a></div></div>
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</div>
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|
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<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/35608843">Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
|
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Sun W,
|
||
Zhou J,
|
||
Li X,
|
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Jiang Y,
|
||
Li S,
|
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Jia X,
|
||
Xiao X,
|
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Ouyang J,
|
||
Wang Y,
|
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Zhou L,
|
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Long Y,
|
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Liu M,
|
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Li Y,
|
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Yi Z,
|
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Wang P,
|
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Zhang Q</span><br />
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<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
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2022 May 2;63(5):28.
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doi: 10.1167/iovs.63.5.28.
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<span class="bold">PMID: </span><a href="/pubmed/35608843" target="_blank">35608843</a><a href="/pmc/articles/PMC9150840" 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=%22Cone-rod%20dystrophy%2010%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
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|
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|
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|
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<div class=" bottom">
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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<div>
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|
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<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1846529%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C1846529%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C1846529%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1846529%5bDISCUI%5d" target="_blank">See all (17)</a></total></li>
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</ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=610283" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Cone-rod%20dystrophy%2010" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cone-rod%20dystrophy%2010)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=607292" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=64218[geneid]" target="_blank">View SEMA4A variations in ClinVar</a></li><li><a href="/nuccore/306482683" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=610283" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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