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<meta name="keywords" content="C3281045, c8orf37 cone-rod dystrophy, cfap418, cone-rod dystrophy 16, cone-rod dystrophy caused by mutation in c8orf37, cone-rod dystrophy type 16, cord16, disease or syndrome, retinal dystrophy with early macular involvement, retinitis pigmentosa 64, 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 (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness. In contrast to RP, CORD is characterized by a primary loss of cone photoreceptors and subsequent or simultaneous loss of rod photoreceptors. The disease in most cases becomes apparent during primary-school years, and symptoms include photoaversion, decrease in visual acuity with or without nystagmus, color vision defects, and decreased sensitivity of the central visual field. Because rods are also involved, night blindness and peripheral vision loss can occur. The diagnosis of CORD is mainly based on electroretinogram (ERG) recordings, in which cone responses are more severely reduced than, or equally as reduced as rod responses (summary by Estrada-Cuzcano et al., 2012)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Cone-rod dystrophy 16 (Concept Id: C3281045)
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<!--
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||
UID=482675
|
||
ConceptID=C3281045
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Cone-rod dystrophy 16<span class="h1sub">(CORD16)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482675</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:">C3281045</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>CORD16</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="CFAP418 - ID: 157657 - NCBI Gene" href="/gene/157657" class="medgenPMinfo">CFAP418</a> (8q22.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013786" target="_blank">MONDO:0013786</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614500" target="_blank">614500</a></td></tr>
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||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_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 (CORD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. RP is characterized initially by rod photoreceptor dysfunction, giving rise to night blindness, which is followed by progressive rod and cone photoreceptor dystrophy, resulting in midperipheral vision loss, tunnel vision, and sometimes blindness. In contrast to RP, CORD is characterized by a primary loss of cone photoreceptors and subsequent or simultaneous loss of rod photoreceptors. The disease in most cases becomes apparent during primary-school years, and symptoms include photoaversion, decrease in visual acuity with or without nystagmus, color vision defects, and decreased sensitivity of the central visual field. Because rods are also involved, night blindness and peripheral vision loss can occur. The diagnosis of CORD is mainly based on electroretinogram (ERG) recordings, in which cone responses are more severely reduced than, or equally as reduced as rod responses (summary by Estrada-Cuzcano et al., 2012). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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||
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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 />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.<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 />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. <a target="_blank" href="https://medlineplus.gov/genetics/condition/cone-rod-dystrophy">https://medlineplus.gov/genetics/condition/cone-rod-dystrophy</a></div></div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_67394"><div><strong>Postaxial polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67394</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.">C0220697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial Polydactyly Other forms of postaxial polydactyly type A include PAPA2 (602085) on chromosome 13q21; PAPA3 (607324) on chromosome 19p13; PAPA4 (608562) on chromosome 7q22; PAPA5 (263450) on chromosome 13q13; PAPA6 (615226), caused by mutation in the ZNF141 gene (194648) on chromosome 4p16; PAPA7 (617642), caused by mutation in the IQCE gene (617631) on chromosome 7p22; PAPA8 (618123), caused by mutation in the GLI1 gene (165220) on chromosome 12q13; PAPA9 (618219), caused by mutation in the CIBAR1 gene (617273) on chromosome 8q22; and PAPA10 (618498), caused by mutation in the KIAA0825 gene (617266) on chromosome 5q15.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/67394">Feature record</a> | <a href="/medgen?term=%22Postaxial%20polydactyly%22%5BClinical%20Features%5D%20OR%2067394%5Buid%5D">Search on this feature</a></div></div>
|
||
<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_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_39462"><div><strong>Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39462</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.">C0086543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39462">Feature record</a> | <a href="/medgen?term=%22Cataract%22%5BClinical%20Features%5D%20OR%2039462%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65889"><div><strong>Reduced visual acuity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65889</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0234632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished clarity of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65889">Feature record</a> | <a href="/medgen?term=%22Reduced%20visual%20acuity%22%5BClinical%20Features%5D%20OR%2065889%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140841"><div><strong>Macular atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140841</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.">C0423421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140841">Feature record</a> | <a href="/medgen?term=%22Macular%20atrophy%22%5BClinical%20Features%5D%20OR%20140841%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_108218"><div><strong>Optic disc pallor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>108218</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0554970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/108218">Feature record</a> | <a href="/medgen?term=%22Optic%20disc%20pallor%22%5BClinical%20Features%5D%20OR%20108218%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_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_896366"><div><strong>Cone-rod dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896366</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.">C4085590</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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.\n\nThe 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).\n\nCone-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.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/896366">Feature record</a> | <a href="/medgen?term=%22Cone-rod%20dystrophy%22%5BClinical%20Features%5D%20OR%20896366%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1369364"><div><strong>Beaten bronze macular sheen</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1369364</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.">C4476614</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A shiny appearance of the macula, which is often called a beaten bronze appearance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1369364">Feature record</a> | <a href="/medgen?term=%22Beaten%20bronze%20macular%20sheen%22%5BClinical%20Features%5D%20OR%201369364%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 limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67394" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postaxial polydactyly</a></span></li></ul></li><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_1369364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Beaten bronze macular sheen</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_39462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_896366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macular atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Night blindness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_108218" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Optic disc pallor</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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_65889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced visual acuity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_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/34906485">The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Britten-Jones AC,
|
||
Jin R,
|
||
Gocuk SA,
|
||
Cichello E,
|
||
O'Hare F,
|
||
Hickey DG,
|
||
Edwards TL,
|
||
Ayton LN</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2022 Mar;24(3):521-534.
|
||
Epub 2021 Nov 30
|
||
doi: 10.1016/j.gim.2021.10.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34906485" target="_blank">34906485</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34573333">Bardet-Biedl Syndrome-Multiple Kaleidoscope Images: Insight into Mechanisms of Genotype-Phenotype Correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Florea L,
|
||
Caba L,
|
||
Gorduza EV</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Aug 29;12(9)
|
||
doi: 10.3390/genes12091353.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34573333" target="_blank">34573333</a><a href="/pmc/articles/PMC8465569" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33261146">Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sung YC,
|
||
Yang CH,
|
||
Yang CM,
|
||
Lin CW,
|
||
Huang DS,
|
||
Huang YS,
|
||
Hu FR,
|
||
Chen PL,
|
||
Chen TC</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2020 Nov 27;11(12)
|
||
doi: 10.3390/genes11121421.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33261146" target="_blank">33261146</a><a href="/pmc/articles/PMC7759801" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cone-rod%20dystrophy%2016)%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 (7)</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/38309476">A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fenner BJ,
|
||
Whitmore SS,
|
||
DeLuca AP,
|
||
Andorf JL,
|
||
Daggett HT,
|
||
Luse MA,
|
||
Haefeli LM,
|
||
Riley JB,
|
||
Critser DB,
|
||
Wilkinson ME,
|
||
Dumitrescu AV,
|
||
Drack AV,
|
||
Boyce TM,
|
||
Russell JF,
|
||
Binkley EM,
|
||
Sohn EH,
|
||
Russell SR,
|
||
Boldt HC,
|
||
Mullins RF,
|
||
Tucker BA,
|
||
Scheetz TE,
|
||
Han IC,
|
||
Stone EM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2024 Aug;131(8):985-997.
|
||
Epub 2024 Feb 1
|
||
doi: 10.1016/j.ophtha.2024.01.035.
|
||
<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>
|
||
|
||
<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,
|
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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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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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<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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|
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<div class="nl"><a target="_blank" href="/pubmed/37762234">Foveal Hypoplasia in CRB1-Related Retinopathies.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Rodriguez-Martinez AC,
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Higgins BE,
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Tailor-Hamblin V,
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Malka S,
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Cheloni R,
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Collins AM,
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Bladen J,
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Henderson R,
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Moosajee M</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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<span class="bold">PMID: </span><a href="/pubmed/37762234" target="_blank">37762234</a><a href="/pmc/articles/PMC10531165" 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/31630094">Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Xu K,
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Xie Y,
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Sun T,
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Zhang X,
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<span class="medgenPMjournal">Br J Ophthalmol</span>
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<span class="bold">PMID: </span><a href="/pubmed/31630094" target="_blank">31630094</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26780318">Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Jiang F,
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Pan Z,
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Xu K,
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Tian L,
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Xie Y,
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Zhang X,
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Chen J,
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Dong B,
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Li Y</span><br />
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<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
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2016 Jan 1;57(1):145-52.
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doi: 10.1167/iovs.15-18190.
|
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<span class="bold">PMID: </span><a href="/pubmed/26780318" target="_blank">26780318</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cone-rod%20dystrophy%2016%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 (44)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38437796">SHWACHMAN-DIAMOND SYNDROME ASSOCIATED WITH ROD-CONE DYSTROPHY.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
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de Guimaraes TAC,
|
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Thompson D,
|
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Michaelides M</span><br />
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<span class="medgenPMjournal">Retin Cases Brief Rep</span>
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2025 Mar 1;19(2):152-156.
|
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doi: 10.1097/ICB.0000000000001568.
|
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<span class="bold">PMID: </span><a href="/pubmed/38437796" target="_blank">38437796</a><a href="/pmc/articles/PMC7616497" 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>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fenner BJ,
|
||
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,
|
||
Haefeli LM,
|
||
Riley JB,
|
||
Critser DB,
|
||
Wilkinson ME,
|
||
Dumitrescu AV,
|
||
Drack AV,
|
||
Boyce TM,
|
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Russell JF,
|
||
Binkley EM,
|
||
Sohn EH,
|
||
Russell SR,
|
||
Boldt HC,
|
||
Mullins RF,
|
||
Tucker BA,
|
||
Scheetz TE,
|
||
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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Epub 2024 Feb 1
|
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doi: 10.1016/j.ophtha.2024.01.035.
|
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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>
|
||
|
||
<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,
|
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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,
|
||
Ji MH,
|
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Uwaydat SH,
|
||
Kim A,
|
||
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>
|
||
2024 Feb;258:119-129.
|
||
Epub 2023 Oct 7
|
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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>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/37775646">A natural history study of autosomal dominant GUCY2D-associated cone-rod dystrophy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Scopelliti AJ,
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Jamieson RV,
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Barnes EH,
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Nash B,
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Rajagopalan S,
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Cornish EL,
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Grigg JR</span><br />
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<span class="medgenPMjournal">Doc Ophthalmol</span>
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2023 Dec;147(3):189-201.
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Epub 2023 Sep 29
|
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doi: 10.1007/s10633-023-09954-7.
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<span class="bold">PMID: </span><a href="/pubmed/37775646" target="_blank">37775646</a><a href="/pmc/articles/PMC10638150" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26780318">Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang F,
|
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Pan Z,
|
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Xu K,
|
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Tian L,
|
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Xie Y,
|
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Zhang X,
|
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Chen J,
|
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Dong B,
|
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Li Y</span><br />
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<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
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2016 Jan 1;57(1):145-52.
|
||
doi: 10.1167/iovs.15-18190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26780318" target="_blank">26780318</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cone-rod%20dystrophy%2016%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 (83)</a></div><h3 class="subhead">Therapy</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/34906485">The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Britten-Jones AC,
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Jin R,
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Gocuk SA,
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Cichello E,
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O'Hare F,
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Hickey DG,
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Edwards TL,
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Ayton LN</span><br />
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<span class="medgenPMjournal">Genet Med</span>
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2022 Mar;24(3):521-534.
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Epub 2021 Nov 30
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doi: 10.1016/j.gim.2021.10.013.
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<span class="bold">PMID: </span><a href="/pubmed/34906485" target="_blank">34906485</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32372497">Low-contrast visual acuity versus low-luminance visual acuity in choroideremia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wood LJ,
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Jolly JK,
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Andrews CD,
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Wilson IR,
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Hickey D,
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Cehajic-Kapetanovic J,
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<span class="medgenPMjournal">Clin Exp Optom</span>
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<span class="bold">PMID: </span><a href="/pubmed/32372497" target="_blank">32372497</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32974081">Edge of Scotoma Sensitivity as a Microperimetry Clinical Trial End Point in USH2A Retinopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Charng J,
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Lamey TM,
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Thompson JA,
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McLaren TL,
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Attia MS,
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McAllister IL,
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Constable IJ,
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Mackey DA,
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<span class="medgenPMjournal">Transl Vis Sci Technol</span>
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<span class="bold">PMID: </span><a href="/pubmed/32974081" target="_blank">32974081</a><a href="/pmc/articles/PMC7488629" 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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Okuno H,
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Bito H,
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Nakazawa T</span><br />
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<span class="medgenPMjournal">Mol Ther</span>
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2018 Oct 3;26(10):2397-2406.
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Epub 2018 Jul 17
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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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|
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<div class="nl"><a target="_blank" href="/pubmed/11720591">Clinical and oculographic response to Dexedrine in a patient with rod-cone dystrophy, exotropia, and congenital aperiodic alternating nystagmus.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hertle RW,
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Maybodi M,
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Bauer RM,
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Walker K</span><br />
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<span class="medgenPMjournal">Binocul Vis Strabismus Q</span>
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<span class="bold">PMID: </span><a href="/pubmed/11720591" target="_blank">11720591</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cone-rod%20dystrophy%2016%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
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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,
|
||
Haefeli LM,
|
||
Riley JB,
|
||
Critser DB,
|
||
Wilkinson ME,
|
||
Dumitrescu AV,
|
||
Drack AV,
|
||
Boyce TM,
|
||
Russell JF,
|
||
Binkley EM,
|
||
Sohn EH,
|
||
Russell SR,
|
||
Boldt HC,
|
||
Mullins RF,
|
||
Tucker BA,
|
||
Scheetz TE,
|
||
Han IC,
|
||
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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Epub 2024 Feb 1
|
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doi: 10.1016/j.ophtha.2024.01.035.
|
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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,
|
||
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 />
|
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<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>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/34352251">Visual Dysfunction and Structural Correlates in Sorsby Fundus Dystrophy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Raming K,
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Gliem M,
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Charbel Issa P,
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Birtel J,
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Herrmann P,
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Holz FG,
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Pfau M,
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Hess K</span><br />
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<span class="medgenPMjournal">Am J Ophthalmol</span>
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2022 Feb;234:274-284.
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Epub 2021 Aug 2
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doi: 10.1016/j.ajo.2021.07.032.
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<span class="bold">PMID: </span><a href="/pubmed/34352251" target="_blank">34352251</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26780318">Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Jiang F,
|
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Pan Z,
|
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Xu K,
|
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Tian L,
|
||
Xie Y,
|
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Zhang X,
|
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Chen J,
|
||
Dong B,
|
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Li Y</span><br />
|
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<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
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2016 Jan 1;57(1):145-52.
|
||
doi: 10.1167/iovs.15-18190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26780318" target="_blank">26780318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9810566">ABCR unites what ophthalmologists divide(s).</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">van Driel MA,
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Maugeri A,
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Klevering BJ,
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Hoyng CB,
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Cremers FP</span><br />
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<span class="medgenPMjournal">Ophthalmic Genet</span>
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1998 Sep;19(3):117-22.
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doi: 10.1076/opge.19.3.117.2187.
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<span class="bold">PMID: </span><a href="/pubmed/9810566" target="_blank">9810566</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cone-rod%20dystrophy%2016%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 (32)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38437796">SHWACHMAN-DIAMOND SYNDROME ASSOCIATED WITH ROD-CONE DYSTROPHY.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang J,
|
||
de Guimaraes TAC,
|
||
Thompson D,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Retin Cases Brief Rep</span>
|
||
2025 Mar 1;19(2):152-156.
|
||
doi: 10.1097/ICB.0000000000001568.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38437796" target="_blank">38437796</a><a href="/pmc/articles/PMC7616497" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38309476">A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fenner BJ,
|
||
Whitmore SS,
|
||
DeLuca AP,
|
||
Andorf JL,
|
||
Daggett HT,
|
||
Luse MA,
|
||
Haefeli LM,
|
||
Riley JB,
|
||
Critser DB,
|
||
Wilkinson ME,
|
||
Dumitrescu AV,
|
||
Drack AV,
|
||
Boyce TM,
|
||
Russell JF,
|
||
Binkley EM,
|
||
Sohn EH,
|
||
Russell SR,
|
||
Boldt HC,
|
||
Mullins RF,
|
||
Tucker BA,
|
||
Scheetz TE,
|
||
Han IC,
|
||
Stone EM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2024 Aug;131(8):985-997.
|
||
Epub 2024 Feb 1
|
||
doi: 10.1016/j.ophtha.2024.01.035.
|
||
<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>
|
||
|
||
<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/37762234">Foveal Hypoplasia in CRB1-Related Retinopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rodriguez-Martinez AC,
|
||
Higgins BE,
|
||
Tailor-Hamblin V,
|
||
Malka S,
|
||
Cheloni R,
|
||
Collins AM,
|
||
Bladen J,
|
||
Henderson R,
|
||
Moosajee M</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Sep 11;24(18)
|
||
doi: 10.3390/ijms241813932.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37762234" target="_blank">37762234</a><a href="/pmc/articles/PMC10531165" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19406377">Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pasadhika S,
|
||
Fishman GA,
|
||
Allikmets R,
|
||
Stone EM</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2009 Aug;148(2):260-265.e1.
|
||
Epub 2009 May 5
|
||
doi: 10.1016/j.ajo.2009.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19406377" target="_blank">19406377</a><a href="/pmc/articles/PMC2976650" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cone-rod%20dystrophy%2016%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 (45)</a></div></div>
|
||
</div>
|
||
|
||
<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/34906485">The safety and efficacy of gene therapy treatment for monogenic retinal and optic nerve diseases: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Britten-Jones AC,
|
||
Jin R,
|
||
Gocuk SA,
|
||
Cichello E,
|
||
O'Hare F,
|
||
Hickey DG,
|
||
Edwards TL,
|
||
Ayton LN</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2022 Mar;24(3):521-534.
|
||
Epub 2021 Nov 30
|
||
doi: 10.1016/j.gim.2021.10.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34906485" target="_blank">34906485</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cone-rod%20dystrophy%2016%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>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3281045%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C3281045%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C3281045%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3281045%5bDISCUI%5d" target="_blank">See all (26)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=614500" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Cone-rod%20dystrophy%2016" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(cone-rod%20dystrophy%2016)%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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=614477" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=157657[geneid]" target="_blank">View CFAP418 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=614500" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Cone-rod+dystrophy+16/8043" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/cone_rod_dystrophy_16" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Cone-rod%20dystrophy%2016" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/cone-rod-dystrophy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15812/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/20301590" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Cone-rod%20dystrophy%2016" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Cone-rod%20dystrophy%2016%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=482675" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=482675" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3281045[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3281045[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=482675" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=482675" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=482675" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=482675" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_bookshelf_cited&from_uid=482675" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=482675" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<div id="HTDisplay" class="">
|
||
<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory" cmd="ClearHT" href="?cmd=ClearHT&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.ClearHistory">
|
||
Clear
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="1" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOn" cmd="HTOff" href="?cmd=HTOff&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn Off
|
||
</a>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" sid="2" realname="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle" class="HTOff" cmd="HTOn" href="?cmd=HTOn&" onclick="return false;" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.HistoryToggle">
|
||
Turn On
|
||
</a>
|
||
</div>
|
||
<ul id="activity">
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb4c0cb15b832ebce62c42">Cone-rod dystrophy 16</a>
|
||
<div class="ralinkpop offscreen_noflow">Cone-rod dystrophy 16<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
|
||
<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb4c0b84f3725e5916a47c">C3281045[conceptid] <span class="number">(1)</span></a>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb4c0ab15b832ebce618f9">C3150912[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(135)</span></a>
|
||
<div class="ralinkpop offscreen_noflow">C3150912[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
|
||
<div class="tertiary">ClinVar</div>
|
||
</li>
|
||
<li class="ra_rcd ralinkpopper two_line">
|
||
<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cb4c09a68b6b5afc521a4e">Cone-rod dystrophy 15</a>
|
||
<div class="ralinkpop offscreen_noflow">Cone-rod dystrophy 15<div class="brieflinkpopdesc"></div></div>
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