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Entry
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- %605750 - EXUDATIVE VITREORETINOPATHY 3; EVR3
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- OMIM
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<span class="h4">%605750</span>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="/phenotypicSeries/PS133780"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="http://biogps.org/#goto=genereport&id=81864" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+81864" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/81864" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=EXUDATIVE VITREORETINOPATHY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=7036&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=891" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 891<br />
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<strong>DO:</strong> 0111409<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description or locus, molecular basis unknown">
|
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<span class="text-danger"><strong>%</strong></span>
|
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605750
|
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</span>
|
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
|
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EXUDATIVE VITREORETINOPATHY 3; EVR3
|
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</span>
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</h3>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
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Cytogenetic location: <a href="/geneMap/11/275?start=-3&limit=10&highlight=275">11p13-p12</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:31000001-43400000&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">11:31,000,001-43,400,000</a> </span>
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</em>
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</strong>
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</span>
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
|
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Phenotype
|
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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</tr>
|
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/11/275?start=-3&limit=10&highlight=275">
|
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11p13-p12
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Exudative vitreoretinopathy 3
|
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</span>
|
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</td>
|
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<td>
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<span class="mim-font">
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<a href="/entry/605750"> 605750 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods">2</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/605750" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS133780" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/605750" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/605750" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> HEAD & NECK </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<em> Eyes </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
|
|
|
- Decreased visual acuity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13164000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span><br /> -
|
|
Defective peripheral vascularization <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230489</a>]</span><br /> -
|
|
Fibrovascular mass at junction between vascularized and nonvascularized retina Vitreous bands <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230488&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230488</a>]</span><br /> -
|
|
Retinal detachment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42059000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42059000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H33.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H33.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/361.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">361.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000541</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000541</a>]</span><br /> -
|
|
Dragged optic disc <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230487&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230487</a>]</span><br /> -
|
|
Dragged macula <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230816</a>]</span><br /> -
|
|
Retinal holes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/232003005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">232003005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1275615004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1275615004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95690009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95690009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302888003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302888003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035321&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035321</a>, <a href="https://bioportal.bioontology.org/search?q=C4551442&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551442</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011958</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0011530" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011530</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011530" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011530</a>]</span><br /> -
|
|
Retinal exudate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39832008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39832008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240897&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240897</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001147" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001147</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001147" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001147</a>]</span><br /> -
|
|
Retinal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37480005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37480005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0229197&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229197</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008052" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008052</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008052" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008052</a>]</span><br /> -
|
|
Retinal schisis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230486&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230486</a>]</span><br /> -
|
|
Peripheral retinal avascularity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230485</a>]</span><br />
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|
|
</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Retinal holes were present in an asymptomatic female carrier<br /> -
|
|
Based on report of 1 large 6-generation family (last curated July 2015)<br />
|
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|
|
</span>
|
|
</div>
|
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</div>
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</div>
|
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|
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
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|
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|
|
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Exudative vitreoretinopathy
|
|
- <a href="/phenotypicSeries/PS133780">PS133780</a>
|
|
- 8 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
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</th>
|
|
</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/3/198?start=-3&limit=10&highlight=198"> 3p22.1 </a>
|
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|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617572"> Exudative vitreoretinopathy 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617572"> 617572 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/116806"> CTNNB1 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/116806"> 116806 </a>
|
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</span>
|
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</td>
|
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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|
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<a href="/geneMap/7/615?start=-3&limit=10&highlight=615"> 7q31.31 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
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<a href="/entry/613310"> Exudative vitreoretinopathy 5 </a>
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<a href="/entry/605750"> Exudative vitreoretinopathy 3 </a>
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<a href="/entry/605750"> 605750 </a>
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<span class="mim-font">
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<a href="/entry/616468"> ?Exudative vitreoretinopathy 6 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/616468"> 616468 </a>
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<span class="mim-font">
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<a href="/entry/616454"> ZNF408 </a>
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<span class="mim-font">
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<a href="/entry/616454"> 616454 </a>
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<a href="/geneMap/11/683?start=-3&limit=10&highlight=683"> 11q13.2 </a>
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<span class="mim-font">
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<a href="/entry/601813"> Exudative vitreoretinopathy 4 </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/601813"> 601813 </a>
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<a href="/entry/603506"> LRP5 </a>
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<span class="mim-font">
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<a href="/entry/603506"> 603506 </a>
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<a href="/geneMap/11/811?start=-3&limit=10&highlight=811"> 11q14.2 </a>
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<span class="mim-font">
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<a href="/entry/133780"> Exudative vitreoretinopathy 1 </a>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/133780"> 133780 </a>
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<span class="mim-font">
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<a href="/entry/604579"> FZD4 </a>
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<span class="mim-font">
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<a href="/entry/604579"> 604579 </a>
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<a href="/geneMap/11/811?start=-3&limit=10&highlight=811"> 11q14.2 </a>
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<span class="mim-font">
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<a href="/entry/133780"> Retinopathy of prematurity </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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<a href="/entry/133780"> 133780 </a>
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<a href="/entry/604579"> FZD4 </a>
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<span class="mim-font">
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<a href="/entry/604579"> 604579 </a>
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<a href="/geneMap/X/194?start=-3&limit=10&highlight=194"> Xp11.3 </a>
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<span class="mim-font">
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<a href="/entry/305390"> Exudative vitreoretinopathy 2, X-linked </a>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>, <abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/305390"> 305390 </a>
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<a href="/entry/300658"> NDP </a>
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<span class="mim-font">
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<a href="/entry/300658"> 300658 </a>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<h4>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<p>Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by <a href="#3" class="mim-tip-reference" title="Poulter, J. A., Ali, M., Gilmour, D. F., Rice, A., Kondo, H., Hayashi, K., Mackey, D. A., Kearns, L. S., Ruddle, J. B., Craig, J. E., Pierce, E. A., Downey, L. M., Mohamed, M. D., Markham, A. F., Inglehearn, C. F., Toomes, C. <strong>Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.</strong> Am. J. Hum. Genet. 86: 248-253, 2010. Note: Erratum: Am. J. Hum. Genet. 98: 592 only, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20159112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20159112</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20159112[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.01.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20159112">Poulter et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20159112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 (<a href="/entry/133780">133780</a>).</p>
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Bamashmus, M. A., Downey, L. M., Inglehearn, C. F., Gupta, S. R., Mansfield, D. C. <strong>Genetic heterogeneity in familial exudative vitreoretinopathy: exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.</strong> Brit. J. Ophthal. 84: 358-363, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10729291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10729291</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10729291[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/bjo.84.4.358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10729291">Bamashmus et al. (2000)</a> reported a large 6-generation family segregating autosomal dominant exudative vitreoretinopathy, in which there were 6 affected males and 12 affected females, as well as 2 asymptomatic female obligate carriers. Both males and females exhibited a spectrum of abnormalities ranging from mild to severe, and there were 4 instances of male-to-male transmission. The female proband was first examined for small right convergent squint and mild hypermetropia at 3.5 years of age. At age 7, she had visual acuity of 20/20 in the left eye and 20/40 in the right. However, retinal traction developed by age 7.5 years, with inferior displacement of the right macula and a peripheral retinal mass inferotemporally in the same eye. Bilateral pseudoptosis at age 8 years was suggestive of inferior traction at both maculae, and bilateral retinal folds were present by 9 years of age, with deterioration of visual acuity to approximately 20/100 over the next 2 years. At 15 years of age, she had visual acuity of 20/60 in the right eye but could only count fingers with the left eye. At age 19 years, she was diagnosed as having FEVR without exudation, at which time she exhibited bilateral tractional retinal detachment, which was progressive in the right eye. Following treatment, visual acuity remained stable at 20/30 in that eye over 10 years of follow-up. The proband's older brother had similar retinal traction and recurrent vitreous hemorrhage. <a href="#1" class="mim-tip-reference" title="Bamashmus, M. A., Downey, L. M., Inglehearn, C. F., Gupta, S. R., Mansfield, D. C. <strong>Genetic heterogeneity in familial exudative vitreoretinopathy: exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.</strong> Brit. J. Ophthal. 84: 358-363, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10729291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10729291</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10729291[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/bjo.84.4.358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10729291">Bamashmus et al. (2000)</a> noted great variability in the clinical appearance of FEVR in the patients examined, varying from mild abnormalities of the peripheral retinal vasculature to rapid progression to rhegmatogenous and/or tractional retinal detachment. Overall, the phenotype differed from classic FEVR by the relatively infrequent occurrence of retinal exudation, which was observed in only 4 affected individuals, and the frequent occurrence of holes in the peripheral retina, which was the only finding in 1 obligate carrier. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10729291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Downey, L. M., Keen, T. J., Roberts, E., Mansfield, D. C., Bamashmus, M., Inglehearn, C. F. <strong>A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.</strong> Am. J. Hum. Genet. 68: 778-781, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11179025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11179025</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11179025[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/318790" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11179025">Downey et al. (2001)</a> restudied the family reported by <a href="#1" class="mim-tip-reference" title="Bamashmus, M. A., Downey, L. M., Inglehearn, C. F., Gupta, S. R., Mansfield, D. C. <strong>Genetic heterogeneity in familial exudative vitreoretinopathy: exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.</strong> Brit. J. Ophthal. 84: 358-363, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10729291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10729291</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10729291[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/bjo.84.4.358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10729291">Bamashmus et al. (2000)</a> and noted that although the affected individuals exhibited the usual variations in expression of disease, defective peripheral vascularization was present in all. Retinal detachment was a frequent finding, as was macular ectopia, with more than half of patients having Snellen acuity of 20/200 or worse in at least 1 eye. The most severely affected family members presented in childhood with poor vision due to macular traction. In addition, <a href="#2" class="mim-tip-reference" title="Downey, L. M., Keen, T. J., Roberts, E., Mansfield, D. C., Bamashmus, M., Inglehearn, C. F. <strong>A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.</strong> Am. J. Hum. Genet. 68: 778-781, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11179025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11179025</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11179025[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/318790" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11179025">Downey et al. (2001)</a> noted that small atrophic peripheral retinal holes were an unusually prevalent feature of the phenotype in this pedigree. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11179025+10729291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Bamashmus, M. A., Downey, L. M., Inglehearn, C. F., Gupta, S. R., Mansfield, D. C. <strong>Genetic heterogeneity in familial exudative vitreoretinopathy: exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.</strong> Brit. J. Ophthal. 84: 358-363, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10729291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10729291</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10729291[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/bjo.84.4.358" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10729291">Bamashmus et al. (2000)</a> reported a large pedigree with autosomal dominant FEVR in which the EVR1 locus on 11q13-q23 could be excluded. By linkage studies in this family, <a href="#2" class="mim-tip-reference" title="Downey, L. M., Keen, T. J., Roberts, E., Mansfield, D. C., Bamashmus, M., Inglehearn, C. F. <strong>A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.</strong> Am. J. Hum. Genet. 68: 778-781, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11179025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11179025</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11179025[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/318790" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11179025">Downey et al. (2001)</a> mapped the disease locus, which they designated EVR3, to 11p13-p12, approximately 30 cM from the EVR1 locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11179025+10729291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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Bamashmus, M. A., Downey, L. M., Inglehearn, C. F., Gupta, S. R., Mansfield, D. C.
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<strong>Genetic heterogeneity in familial exudative vitreoretinopathy: exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.</strong>
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Brit. J. Ophthal. 84: 358-363, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10729291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10729291</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10729291[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10729291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/bjo.84.4.358" target="_blank">Full Text</a>]
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Downey, L. M., Keen, T. J., Roberts, E., Mansfield, D. C., Bamashmus, M., Inglehearn, C. F.
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<strong>A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.</strong>
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Am. J. Hum. Genet. 68: 778-781, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11179025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11179025</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11179025[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11179025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/318790" target="_blank">Full Text</a>]
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<a id="Poulter2010" class="mim-anchor"></a>
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Poulter, J. A., Ali, M., Gilmour, D. F., Rice, A., Kondo, H., Hayashi, K., Mackey, D. A., Kearns, L. S., Ruddle, J. B., Craig, J. E., Pierce, E. A., Downey, L. M., Mohamed, M. D., Markham, A. F., Inglehearn, C. F., Toomes, C.
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<strong>Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.</strong>
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Am. J. Hum. Genet. 86: 248-253, 2010. Note: Erratum: Am. J. Hum. Genet. 98: 592 only, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20159112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20159112</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20159112[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20159112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2010.01.012" target="_blank">Full Text</a>]
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Contributors:
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Marla J. F. O'Neill - updated : 7/28/2015
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Victor A. McKusick : 3/21/2001
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carol : 03/03/2016
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carol : 7/30/2015<br>mcolton : 7/28/2015<br>carol : 5/14/2014<br>mcolton : 5/13/2014<br>carol : 3/18/2010<br>wwang : 8/23/2006<br>ckniffin : 8/14/2006<br>alopez : 3/19/2004<br>mgross : 3/21/2001
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<strong>%</strong> 605750
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EXUDATIVE VITREORETINOPATHY 3; EVR3
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<strong>ORPHA:</strong> 891;
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<strong>DO:</strong> 0111409;
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Cytogenetic location: 11p13-p12
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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11p13-p12
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Exudative vitreoretinopathy 3
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<span class="mim-font">
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605750
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<span class="mim-font">
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Autosomal dominant
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</td>
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<td>
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<span class="mim-font">
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2
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<strong>Description</strong>
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<p>Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010). </p><p>For a discussion of genetic heterogeneity of familial exudative vitreoretinopathy, see EVR1 (133780).</p>
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<strong>Clinical Features</strong>
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<p>Bamashmus et al. (2000) reported a large 6-generation family segregating autosomal dominant exudative vitreoretinopathy, in which there were 6 affected males and 12 affected females, as well as 2 asymptomatic female obligate carriers. Both males and females exhibited a spectrum of abnormalities ranging from mild to severe, and there were 4 instances of male-to-male transmission. The female proband was first examined for small right convergent squint and mild hypermetropia at 3.5 years of age. At age 7, she had visual acuity of 20/20 in the left eye and 20/40 in the right. However, retinal traction developed by age 7.5 years, with inferior displacement of the right macula and a peripheral retinal mass inferotemporally in the same eye. Bilateral pseudoptosis at age 8 years was suggestive of inferior traction at both maculae, and bilateral retinal folds were present by 9 years of age, with deterioration of visual acuity to approximately 20/100 over the next 2 years. At 15 years of age, she had visual acuity of 20/60 in the right eye but could only count fingers with the left eye. At age 19 years, she was diagnosed as having FEVR without exudation, at which time she exhibited bilateral tractional retinal detachment, which was progressive in the right eye. Following treatment, visual acuity remained stable at 20/30 in that eye over 10 years of follow-up. The proband's older brother had similar retinal traction and recurrent vitreous hemorrhage. Bamashmus et al. (2000) noted great variability in the clinical appearance of FEVR in the patients examined, varying from mild abnormalities of the peripheral retinal vasculature to rapid progression to rhegmatogenous and/or tractional retinal detachment. Overall, the phenotype differed from classic FEVR by the relatively infrequent occurrence of retinal exudation, which was observed in only 4 affected individuals, and the frequent occurrence of holes in the peripheral retina, which was the only finding in 1 obligate carrier. </p><p>Downey et al. (2001) restudied the family reported by Bamashmus et al. (2000) and noted that although the affected individuals exhibited the usual variations in expression of disease, defective peripheral vascularization was present in all. Retinal detachment was a frequent finding, as was macular ectopia, with more than half of patients having Snellen acuity of 20/200 or worse in at least 1 eye. The most severely affected family members presented in childhood with poor vision due to macular traction. In addition, Downey et al. (2001) noted that small atrophic peripheral retinal holes were an unusually prevalent feature of the phenotype in this pedigree. </p>
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<p>Bamashmus et al. (2000) reported a large pedigree with autosomal dominant FEVR in which the EVR1 locus on 11q13-q23 could be excluded. By linkage studies in this family, Downey et al. (2001) mapped the disease locus, which they designated EVR3, to 11p13-p12, approximately 30 cM from the EVR1 locus. </p>
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<strong>REFERENCES</strong>
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Bamashmus, M. A., Downey, L. M., Inglehearn, C. F., Gupta, S. R., Mansfield, D. C.
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<strong>Genetic heterogeneity in familial exudative vitreoretinopathy: exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.</strong>
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Brit. J. Ophthal. 84: 358-363, 2000.
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[PubMed: 10729291]
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[Full Text: https://doi.org/10.1136/bjo.84.4.358]
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Downey, L. M., Keen, T. J., Roberts, E., Mansfield, D. C., Bamashmus, M., Inglehearn, C. F.
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<strong>A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13.</strong>
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Am. J. Hum. Genet. 68: 778-781, 2001.
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[PubMed: 11179025]
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[Full Text: https://doi.org/10.1086/318790]
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Poulter, J. A., Ali, M., Gilmour, D. F., Rice, A., Kondo, H., Hayashi, K., Mackey, D. A., Kearns, L. S., Ruddle, J. B., Craig, J. E., Pierce, E. A., Downey, L. M., Mohamed, M. D., Markham, A. F., Inglehearn, C. F., Toomes, C.
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<strong>Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.</strong>
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Am. J. Hum. Genet. 86: 248-253, 2010. Note: Erratum: Am. J. Hum. Genet. 98: 592 only, 2016.
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[PubMed: 20159112]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.01.012]
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Contributors:
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Marla J. F. O'Neill - updated : 7/28/2015
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Victor A. McKusick : 3/21/2001
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carol : 03/03/2016<br>carol : 7/30/2015<br>mcolton : 7/28/2015<br>carol : 5/14/2014<br>mcolton : 5/13/2014<br>carol : 3/18/2010<br>wwang : 8/23/2006<br>ckniffin : 8/14/2006<br>alopez : 3/19/2004<br>mgross : 3/21/2001
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