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<meta name="keywords" content="C3714753, disease or syndrome, juvenile retinoschisis, juvenile x-linked retinoschisis, retinoschisis 1, x-linked, juvenile, retinoschisis juvenile x chromosome-linked, retinoschisis x-linked, retinoschisis, x-linked, retinoschisis, x-linked recessive, rs, rs1, x-linked juvenile retinoschisis, x-linked juvenile retinoschisis 1, x-linked juvenile retinoschisis type 1, x-linked retinoschisis, xjr, xlrs, xlrs1, 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="X-linked congenital retinoschisis (XLRS) is characterized by symmetric bilateral macular involvement with onset in the first decade of life, in some cases as early as age three months. Fundus examination shows areas of schisis (splitting of the nerve fiber layer of the retina) in the macula, sometimes giving the impression of a spoke wheel pattern. Schisis of the peripheral retina, predominantly inferotemporally, occurs in approximately 50% of individuals. Affected males typically have 20/60 to 20/120 vision. Visual acuity often deteriorates during the first and second decades of life but then remains relatively stable until the fifth or sixth decade." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=811458
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ConceptID=C3714753
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-->
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<!--imgCountBooks = 3--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (3)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1222/bin/retinoschisis-Image002.gif" src-large="/books/NBK1222/bin/retinoschisis-Image002.jpg" /></a><br /><a href="/books/NBK1222/figure/retinoschisis.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1222/bin/retinoschisis-Image001.gif" src-large="/books/NBK1222/bin/retinoschisis-Image001.jpg" /></a><br /><a href="/books/NBK1222/figure/retinoschisis.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1222/bin/retinoschisis-Image003.gif" src-large="/books/NBK1222/bin/retinoschisis-Image003.jpg" /></a><br /><a href="/books/NBK1222/figure/retinoschisis.F3/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Juvenile retinoschisis<span class="h1sub">(RS1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811458</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:">C3714753</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Retinoschisis juvenile X chromosome-linked; RS1; X-Linked Juvenile Retinoschisis; X-linked retinoschisis; XJR</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div></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="RS1 - ID: 6247 - NCBI Gene" href="/gene/6247" class="medgenPMinfo">RS1</a> (Xp22.13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0010725" target="_blank">MONDO:0010725</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/312700" target="_blank">312700</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=792">ORPHA792</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1222" target="_blank">X-Linked Congenital Retinoschisis</a></div><div>X-linked congenital retinoschisis (XLRS) is characterized by symmetric bilateral macular involvement with onset in the first decade of life, in some cases as early as age three months. Fundus examination shows areas of schisis (splitting of the nerve fiber layer of the retina) in the macula, sometimes giving the impression of a spoke wheel pattern. Schisis of the peripheral retina, predominantly inferotemporally, occurs in approximately 50% of individuals. Affected males typically have 20/60 to 20/120 vision. Visual acuity often deteriorates during the first and second decades of life but then remains relatively stable until the fifth or sixth decade. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1222#retinoschisis.Summary" target="NBK1222">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1222#retinoschisis.Diagnosis" target="NBK1222">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1222#retinoschisis.Clinical_Characteristics" target="NBK1222">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1222#retinoschisis.Genetically_Related_Alleli" target="NBK1222">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1222#retinoschisis.Differential_Diagnosis" target="NBK1222">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1222#retinoschisis.Management" target="NBK1222">Management</a> | <a class="medgenPMinfo" href="/books/NBK1222#retinoschisis.Genetic_Counseling" target="NBK1222">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1222#retinoschisis.Resources" target="NBK1222">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1222#retinoschisis.Molecular_Genetics" target="NBK1222">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1222#retinoschisis.Chapter_Notes" target="NBK1222">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1222#retinoschisis.References" target="NBK1222">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Paul A Sieving | Ian M MacDonald | Stephanie Hoang <a href="/books/NBK1222" target="NBK1222" title="NCBI Bookshelf: X-Linked Congenital Retinoschisis">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />X-linked retinoschisis (XLRS) is a retinal dystrophy that leads to schisis (splitting) of the neural retina leading to reduced visual acuity in affected men. The condition accounts for almost all congenital retinoschisis, with occasional reports of autosomal dominant retinoschisis (see 180270) making up the remainder. The split in the retina occurs predominantly within the inner retinal layers and is very different from retinal detachment, which is a split between the neural retina and the retinal pigment epithelium. In general, carrier females remain asymptomatic (summary by Sikkink et al., 2007). <a target="_blank" href="http://www.omim.org/entry/312700">http://www.omim.org/entry/312700</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />X-linked juvenile retinoschisis is a condition characterized by impaired vision that begins in childhood and occurs almost exclusively in males. This disorder affects the retina, which is a specialized light-sensitive tissue that lines the back of the eye. Damage to the retina impairs the sharpness of vision (visual acuity) in both eyes. Typically, X-linked juvenile retinoschisis affects cells in the central area of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. X-linked juvenile retinoschisis is one type of a broader disorder called macular degeneration, which disrupts the normal functioning of the macula. Occasionally, side (peripheral) vision is affected in people with X-linked juvenile retinoschisis.<br /><br />X-linked juvenile retinoschisis is usually diagnosed when affected boys start school and poor vision and difficulty with reading become apparent. In more severe cases, eye squinting and involuntary movement of the eyes (nystagmus) begin in infancy. Other early features of X-linked juvenile retinoschisis include eyes that do not look in the same direction (strabismus) and farsightedness (hyperopia). Visual acuity often declines in childhood and adolescence but then stabilizes throughout adulthood until a significant decline in visual acuity typically occurs in a man's fifties or sixties. Sometimes, severe complications develop, such as separation of the retinal layers (retinal detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). These eye abnormalities can further impair vision or cause blindness. <a target="_blank" href="https://medlineplus.gov/genetics/condition/x-linked-juvenile-retinoschisis">https://medlineplus.gov/genetics/condition/x-linked-juvenile-retinoschisis</a></div></div>
|
||
</div>
|
||
|
||
<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>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_43780"><div><strong>Hypermetropia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43780</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.">C0020490</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/43780">Feature record</a> | <a href="/medgen?term=%22Hypermetropia%22%5BClinical%20Features%5D%20OR%2043780%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_48432"><div><strong>Retinal degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>48432</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.">C0035304</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/48432">Feature record</a> | <a href="/medgen?term=%22Retinal%20degeneration%22%5BClinical%20Features%5D%20OR%2048432%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_19759"><div><strong>Retinal detachment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19759</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.">C0035305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/19759">Feature record</a> | <a href="/medgen?term=%22Retinal%20detachment%22%5BClinical%20Features%5D%20OR%2019759%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_12119"><div><strong>Vitreous hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12119</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.">C0042909</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
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<div class="spaceAbove">Bleeding within the vitreous compartment of the eye.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/12119">Feature record</a> | <a href="/medgen?term=%22Vitreous%20hemorrhage%22%5BClinical%20Features%5D%20OR%2012119%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_56292"><div><strong>Retinoschisis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56292</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.">C0152439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Splitting of the neuroretinal layers of the retina.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/56292">Feature record</a> | <a href="/medgen?term=%22Retinoschisis%22%5BClinical%20Features%5D%20OR%2056292%5Buid%5D">Search on this feature</a></div></div>
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<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>
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<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>
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<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>
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<div class="divPopper rprt" id="clin_101075"><div><strong>Retinal atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>101075</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0521694</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/101075">Feature record</a> | <a href="/medgen?term=%22Retinal%20atrophy%22%5BClinical%20Features%5D%20OR%20101075%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_374208"><div><strong>Peripheral cystoid retinal degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>374208</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.">C1839362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/374208">Feature record</a> | <a href="/medgen?term=%22Peripheral%20cystoid%20retinal%20degeneration%22%5BClinical%20Features%5D%20OR%20374208%5Buid%5D">Search on this feature</a></div></div>
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<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>
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<div class="spaceAbove">A reduction of previously attained ability to see.</div>
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<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>
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<div class="divPopper rprt" id="clin_333564"><div><strong>Retinal pigment epithelial atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333564</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.">C1840457</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/333564">Feature record</a> | <a href="/medgen?term=%22Retinal%20pigment%20epithelial%20atrophy%22%5BClinical%20Features%5D%20OR%20333564%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_867203"><div><strong>Electronegative electroretinogram</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867203</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.">C4021561</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/867203">Feature record</a> | <a href="/medgen?term=%22Electronegative%20electroretinogram%22%5BClinical%20Features%5D%20OR%20867203%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_896050"><div><strong>Mizuo phenomenon</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896050</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.">C4280748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14].</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/896050">Feature record</a> | <a href="/medgen?term=%22Mizuo%20phenomenon%22%5BClinical%20Features%5D%20OR%20896050%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867203" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Electronegative electroretinogram</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypermetropia</a></span></li><li class="TLline">
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||
<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">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_896050" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mizuo phenomenon</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_374208" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peripheral cystoid retinal degeneration</a></span></li><li class="TLline">
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||
<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">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_101075" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_48432" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal degeneration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19759" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal detachment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333564" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal pigment epithelial atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56292" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinoschisis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12119" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitreous hemorrhage</a></span></li></ul></li></ul></div></div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3714753[DISCUI]&test_type=Clinical" ref="ncbi_uid=811458">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=811458" target="_blank" href="/omim/300839">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1222/" ref="ncbi_uid=811458">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=811458" ref="ncbi_uid=811458">V</a></span></span><span class="TLline">Juvenile retinoschisis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842439" ref="tree=MeSH" title="MedGen record for Secondary dysgenetic glaucoma">Secondary dysgenetic glaucoma</a></span><ul><li><span class="matched_ds">Juvenile retinoschisis</span></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
|
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<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>
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||
<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>
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<div class="nl"><a target="_blank" href="/pubmed/36377647">X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fortunato P,
|
||
Pagliazzi A,
|
||
Bargiacchi S,
|
||
Marziali E,
|
||
Sodi A,
|
||
Caputo R,
|
||
Passerini I,
|
||
Pelo E,
|
||
Bacci GM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2023 Feb;44(1):35-42.
|
||
Epub 2022 Nov 15
|
||
doi: 10.1080/13816810.2022.2141790.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36377647" target="_blank">36377647</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26400864">Solid lipid nanoparticle-based vectors intended for the treatment of X-linked juvenile retinoschisis by gene therapy: In vivo approaches in Rs1h-deficient mouse model.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Apaolaza PS,
|
||
Del Pozo-Rodríguez A,
|
||
Torrecilla J,
|
||
Rodríguez-Gascón A,
|
||
Rodríguez JM,
|
||
Friedrich U,
|
||
Weber BH,
|
||
Solinís MA</span><br />
|
||
<span class="medgenPMjournal">J Control Release</span>
|
||
2015 Nov 10;217:273-83.
|
||
Epub 2015 Sep 21
|
||
doi: 10.1016/j.jconrel.2015.09.033.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26400864" target="_blank">26400864</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24138048">X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim DY,
|
||
Mukai S</span><br />
|
||
<span class="medgenPMjournal">Semin Ophthalmol</span>
|
||
2013 Sep-Nov;28(5-6):392-6.
|
||
doi: 10.3109/08820538.2013.825299.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24138048" target="_blank">24138048</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22juvenile%20retinoschisis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (5)</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/39293640">Genotype-Phenotype Correlations in 83 Korean X-linked Retinoschisis Patients: Impact of Retinoschisin 1 Secretion Profiles on Clinical Phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SJ,
|
||
Jiang H,
|
||
Jeong HC,
|
||
Jo DH,
|
||
Song HB,
|
||
Gee HY,
|
||
Lee KH,
|
||
Kim JH</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2025 Mar;9(3):288-298.
|
||
Epub 2024 Sep 16
|
||
doi: 10.1016/j.oret.2024.09.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39293640" target="_blank">39293640</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36377647">X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fortunato P,
|
||
Pagliazzi A,
|
||
Bargiacchi S,
|
||
Marziali E,
|
||
Sodi A,
|
||
Caputo R,
|
||
Passerini I,
|
||
Pelo E,
|
||
Bacci GM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2023 Feb;44(1):35-42.
|
||
Epub 2022 Nov 15
|
||
doi: 10.1080/13816810.2022.2141790.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36377647" target="_blank">36377647</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36270067">Generation of a X-linked juvenile retinoschisis patient-derived induced pluripotent stem cell line ZOCi004-A.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang L,
|
||
Liu X,
|
||
Huang M,
|
||
Xu P,
|
||
Lai Y,
|
||
Liu Y,
|
||
Zhong X,
|
||
Li S,
|
||
Ding X</span><br />
|
||
<span class="medgenPMjournal">Stem Cell Res</span>
|
||
2022 Dec;65:102937.
|
||
Epub 2022 Oct 10
|
||
doi: 10.1016/j.scr.2022.102937.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36270067" target="_blank">36270067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31747688">Retinal Function in X-Linked Juvenile Retinoschisis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ambrosio L,
|
||
Hansen RM,
|
||
Kimia R,
|
||
Fulton AB</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2019 Nov 1;60(14):4872-4881.
|
||
doi: 10.1167/iovs.19-27897.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31747688" target="_blank">31747688</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30562235">DEXAMETHASONE INTRAVITREAL IMPLANT FOR X-LINKED (JUVENILE) RETINOSCHISIS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mukhtar S,
|
||
Potter SM,
|
||
Khurshid SG</span><br />
|
||
<span class="medgenPMjournal">Retin Cases Brief Rep</span>
|
||
2019 Winter;13(1):18-20.
|
||
doi: 10.1097/ICB.0000000000000521.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30562235" target="_blank">30562235</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20retinoschisis%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 (34)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24138048">X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim DY,
|
||
Mukai S</span><br />
|
||
<span class="medgenPMjournal">Semin Ophthalmol</span>
|
||
2013 Sep-Nov;28(5-6):392-6.
|
||
doi: 10.3109/08820538.2013.825299.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24138048" target="_blank">24138048</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10168899">Surgical management of retinoschisis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Regillo CD,
|
||
Custis PH</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Ophthalmol</span>
|
||
1997 Jun;8(3):80-6.
|
||
doi: 10.1097/00055735-199706000-00014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10168899" target="_blank">10168899</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8325733">X-chromosome-linked juvenile retinoschisis: clinical aspects and genetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Falcone PM,
|
||
Brockhurst RJ</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol Clin</span>
|
||
1993 Spring;33(2):193-202.
|
||
doi: 10.1097/00004397-199303320-00018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8325733" target="_blank">8325733</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1269677">Juvenile retinoschisis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ide CH</span><br />
|
||
<span class="medgenPMjournal">Eye Ear Nose Throat Mon</span>
|
||
1976 May;55(5):174-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1269677" target="_blank">1269677</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/5929133">Juvenile retinoschisis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sabates FN</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1966 Oct;62(4):683-8.
|
||
doi: 10.1016/0002-9394(66)92194-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/5929133" target="_blank">5929133</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20retinoschisis%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 (95)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35945887">X-linked Juvenile Retinoschisis in a Young Female.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ranabhat S,
|
||
Byanju R,
|
||
Khadka S</span><br />
|
||
<span class="medgenPMjournal">J Nepal Health Res Counc</span>
|
||
2022 Jun 3;20(1):260-264.
|
||
doi: 10.33314/jnhrc.v20i01.3757.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35945887" target="_blank">35945887</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31146612">Microperimetry in Three Inherited Retinal Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bagdonaite-Bejarano L,
|
||
Hansen RM,
|
||
Fulton AB</span><br />
|
||
<span class="medgenPMjournal">Semin Ophthalmol</span>
|
||
2019;34(4):334-339.
|
||
Epub 2019 May 30
|
||
doi: 10.1080/08820538.2019.1622025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31146612" target="_blank">31146612</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30081704">The treatment of refractory angle-closure glaucoma in a patient with X-linked juvenile retinoschisis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Low S,
|
||
Mohamed R,
|
||
Ting M,
|
||
Webster AR,
|
||
Garway-Heath DF</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2018 Oct;39(5):625-627.
|
||
Epub 2018 Aug 6
|
||
doi: 10.1080/13816810.2018.1490961.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30081704" target="_blank">30081704</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26823236">X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiao Y,
|
||
Liu X,
|
||
Tang L,
|
||
Wang X,
|
||
Coursey TG,
|
||
Guo X,
|
||
Li Z</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2016 Jan 29;6:20118.
|
||
doi: 10.1038/srep20118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26823236" target="_blank">26823236</a><a href="/pmc/articles/PMC4731765" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23541677">Topical brinzolamide for foveal schisis in juvenile retinoschisis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang FP,
|
||
Willyasti K,
|
||
Leo SW</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2013 Apr;17(2):225-7.
|
||
Epub 2013 Mar 29
|
||
doi: 10.1016/j.jaapos.2012.11.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23541677" target="_blank">23541677</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20retinoschisis%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 (18)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39293640">Genotype-Phenotype Correlations in 83 Korean X-linked Retinoschisis Patients: Impact of Retinoschisin 1 Secretion Profiles on Clinical Phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SJ,
|
||
Jiang H,
|
||
Jeong HC,
|
||
Jo DH,
|
||
Song HB,
|
||
Gee HY,
|
||
Lee KH,
|
||
Kim JH</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2025 Mar;9(3):288-298.
|
||
Epub 2024 Sep 16
|
||
doi: 10.1016/j.oret.2024.09.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39293640" target="_blank">39293640</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36856325">The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu Z,
|
||
Guo J,
|
||
Pan M,
|
||
Xie K,
|
||
Du L,
|
||
Jin X,
|
||
Lei B</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2023 Jun;44(3):262-270.
|
||
Epub 2023 Mar 1
|
||
doi: 10.1080/13816810.2023.2182328.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36856325" target="_blank">36856325</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30562235">DEXAMETHASONE INTRAVITREAL IMPLANT FOR X-LINKED (JUVENILE) RETINOSCHISIS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mukhtar S,
|
||
Potter SM,
|
||
Khurshid SG</span><br />
|
||
<span class="medgenPMjournal">Retin Cases Brief Rep</span>
|
||
2019 Winter;13(1):18-20.
|
||
doi: 10.1097/ICB.0000000000000521.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30562235" target="_blank">30562235</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17484312">Negative electroretinogram in the differential diagnosis of malingering of night blindness in the military.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sobaci G,
|
||
Erdem U,
|
||
Uysal Y,
|
||
Gundogan FC,
|
||
Bayraktar MZ</span><br />
|
||
<span class="medgenPMjournal">Mil Med</span>
|
||
2007 Apr;172(4):402-4.
|
||
doi: 10.7205/milmed.172.4.402.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17484312" target="_blank">17484312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6682127">X-linked juvenile retinoschisis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McMahon TT,
|
||
Rosenthal BP</span><br />
|
||
<span class="medgenPMjournal">J Am Optom Assoc</span>
|
||
1983 Jan;54(1):55-61.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6682127" target="_blank">6682127</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20retinoschisis%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 (37)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39125773">Early Developmental Characteristics and Features of a Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Han JW,
|
||
Chang HS,
|
||
Park SC,
|
||
Yang JY,
|
||
Kim YJ,
|
||
Kim JH,
|
||
Park HS,
|
||
Jeong H,
|
||
Lee J,
|
||
Yoon CK,
|
||
Yu HG,
|
||
Woo SJ,
|
||
Lyu J,
|
||
Park TK</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Jul 27;25(15)
|
||
doi: 10.3390/ijms25158203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39125773" target="_blank">39125773</a><a href="/pmc/articles/PMC11311801" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37481224">Do the retinal abnormalities in X-linked juvenile retinoschisis include impaired phototransduction?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ambrosio L,
|
||
Akula JD,
|
||
Harman JC,
|
||
Arellano IA,
|
||
Fulton AB</span><br />
|
||
<span class="medgenPMjournal">Exp Eye Res</span>
|
||
2023 Sep;234:109591.
|
||
Epub 2023 Jul 20
|
||
doi: 10.1016/j.exer.2023.109591.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37481224" target="_blank">37481224</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36856325">The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu Z,
|
||
Guo J,
|
||
Pan M,
|
||
Xie K,
|
||
Du L,
|
||
Jin X,
|
||
Lei B</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2023 Jun;44(3):262-270.
|
||
Epub 2023 Mar 1
|
||
doi: 10.1080/13816810.2023.2182328.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36856325" target="_blank">36856325</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36377647">X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fortunato P,
|
||
Pagliazzi A,
|
||
Bargiacchi S,
|
||
Marziali E,
|
||
Sodi A,
|
||
Caputo R,
|
||
Passerini I,
|
||
Pelo E,
|
||
Bacci GM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2023 Feb;44(1):35-42.
|
||
Epub 2022 Nov 15
|
||
doi: 10.1080/13816810.2022.2141790.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36377647" target="_blank">36377647</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7387953">Infantile cystoid maculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Trese MT,
|
||
Foos RY</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
1980 Mar;64(3):206-10.
|
||
doi: 10.1136/bjo.64.3.206.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7387953" target="_blank">7387953</a><a href="/pmc/articles/PMC1039388" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20retinoschisis%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 (52)</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/38279267">The Road towards Gene Therapy for X-Linked Juvenile Retinoschisis: A Systematic Review of Preclinical Gene Therapy in Cell-Based and Rodent Models of XLRS.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van der Veen I,
|
||
Heredero Berzal A,
|
||
Koster C,
|
||
Ten Asbroek ALMA,
|
||
Bergen AA,
|
||
Boon CJF</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2024 Jan 19;25(2)
|
||
doi: 10.3390/ijms25021267.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38279267" target="_blank">38279267</a><a href="/pmc/articles/PMC10816913" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Juvenile%20retinoschisis%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=C3714753%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (39)</a></li>
|
||
<li><a href="/gtr/tests?term=C3714753%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3714753%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3714753%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C3714753%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3714753%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C3714753%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (46)</a></li>
|
||
<li><a href="/gtr/tests?term=C3714753%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (18)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3714753%5bDISCUI%5d" target="_blank">See all (62)</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=312700" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=792" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Juvenile%20retinoschisis" 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=(%22juvenile%20retinoschisis%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">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=300839" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=6247[geneid]" target="_blank">View RS1 variations in ClinVar</a></li><li><a href="/nuccore/209417926" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=312700" 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/Juvenile+retinoschisis/3940" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/retinoschisis_1_x_linked_juvenile" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Juvenile%20retinoschisis" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/x-linked-juvenile-retinoschisis" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/4690/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/20301401" 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=Juvenile%20retinoschisis" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Juvenile%20retinoschisis%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>
|
||
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|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=811458" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=811458" ref="log$=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=C3714753[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3714753[DISCUI]&test_type=Clinical" ref="log$=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=811458" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=811458" ref="log$=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=811458" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=811458" ref="log$=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=811458" ref="log$=recordlinks">PubMed (Bookshelf cited)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Links to PubMed based on citations in GeneReviews and Medical Genetics Summaries</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=811458" ref="log$=recordlinks">PubMed (GeneReviews)</a>
|
||
<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=811458" ref="log$=recordlinks">PubMed (OMIM)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
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|
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|
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<div id="HTDisplay" class="">
|
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
|
||
<div class="action">
|
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<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">
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||
Clear
|
||
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|
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<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">
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||
Turn Off
|
||
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|
||
<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=67cc400f84f3725e59a8dc05">Juvenile retinoschisis</a>
|
||
<div class="ralinkpop offscreen_noflow">Juvenile retinoschisis<div class="brieflinkpopdesc"></div></div>
|
||
<div class="tertiary">MedGen</div>
|
||
</li>
|
||
<li class="ra_qry two_line">
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