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<title>
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Entry
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- #133780 - EXUDATIVE VITREORETINOPATHY 1; EVR1
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- OMIM
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<span class="h4">#133780</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS133780"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#otherFeatures">Other Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(EXUDATIVE VITREORETINOPATHY) OR (FZD4)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=7036&Typ=Pat" title="Familial exudative vitreoretinopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Familial exudative vitreor… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11941&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Retinopathy of prematurity </a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8378" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=133780[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=891" title="Familial exudative vitreoretinopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Familial exudative vitreor…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Retinopathy of prematurity</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111412" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/133780" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111412" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</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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<a id="title" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 415297005<br />
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<strong>ICD10CM:</strong> H35.1, H35.10, H35.17<br />
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<strong>ICD9CM:</strong> 362.20, 362.21<br />
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<strong>ORPHA:</strong> 891, 90050<br />
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<strong>DO:</strong> 0111412<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, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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133780
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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 1; EVR1
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT<br />
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FEVR, AUTOSOMAL DOMINANT<br />
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CRISWICK-SCHEPENS SYNDROME
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</span>
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</h4>
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</div>
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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="includedTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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RETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED
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</span>
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</div>
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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="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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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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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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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>
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<span class="mim-font">
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<a href="/geneMap/11/811?start=-3&limit=10&highlight=811">
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11q14.2
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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">
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Retinopathy of prematurity
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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/133780"> 133780 </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="3 - The molecular basis of the disorder is known"> 3 </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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FZD4
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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/604579"> 604579 </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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<a href="/geneMap/11/811?start=-3&limit=10&highlight=811">
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11q14.2
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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 1
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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/133780"> 133780 </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="3 - The molecular basis of the disorder is known"> 3 </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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FZD4
|
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</span>
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604579"> 604579 </a>
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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/133780" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/133780" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/133780" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<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 />
|
|
</div>
|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<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">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
|
<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>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<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 /> -
|
|
Blindness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0456909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456909</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span><br /> -
|
|
Falciform retinal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204181009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204181009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344550&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344550</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001493" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001493</a>]</span><br /> -
|
|
Vitreoretinal traction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851403</a>]</span><br /> -
|
|
Partial-total retinal detachment <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851404</a>]</span><br /> -
|
|
Macular ectopia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851405&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851405</a>]</span><br /> -
|
|
Retinal exudates <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 /> -
|
|
Vitreous detachment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53772007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53772007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247081001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247081001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H43.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H43.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423361&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423361</a>, <a href="https://bioportal.bioontology.org/search?q=C0042907&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042907</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001489" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001489</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001489" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001489</a>]</span><br /> -
|
|
Subcapsular opacities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95723009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95723009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235259&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235259</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000523" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000523</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000523" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000523</a>]</span><br /> -
|
|
Peripheral retinal avascularization <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851406&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851406</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007685" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007685</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007685" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007685</a>]</span><br /> -
|
|
Retinal neovascularization <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61267008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61267008</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/362.16" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">362.16</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035320&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035320</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030666" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030666</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030666" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030666</a>]</span><br /> -
|
|
Vitreous hemorrhage <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31341008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31341008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H43.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H43.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H43.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H43.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042909</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007902" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007902</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007902" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007902</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>
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<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Low bone density <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/449781000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">449781000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312894000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312894000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3266069&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3266069</a>, <a href="https://bioportal.bioontology.org/search?q=C0029453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029453</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span><br /> -
|
|
Increased fracture rate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805574&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805574</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002757" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002757</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002757" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002757</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>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in infancy or early childhood<br /> -
|
|
Slowly progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854494&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854494</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003677</a>]</span><br /> -
|
|
Clinical variability<br /> -
|
|
Some patients may be asymptomatic<br /> -
|
|
Absence of premature birth, low birthweight, and exposure to oxygen<br /> -
|
|
Genetic heterogeneity, see EVR2 (<a href="/entry/305390">305390</a>), EVR3 (<a href="/entry/605750">605750</a>), and EVR4 (<a href="/entry/601813">601813</a>)<br />
|
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|
|
</span>
|
|
</div>
|
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|
|
</div>
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|
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</div>
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the frizzled 4 gene (FZD4, <a href="/entry/604579#0001">604579.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
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|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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>
|
|
|
|
<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>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/198?start=-3&limit=10&highlight=198"> 3p22.1 </a>
|
|
|
|
</span>
|
|
</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>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617572"> 617572 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116806"> CTNNB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116806"> 116806 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/615?start=-3&limit=10&highlight=615"> 7q31.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613310"> Exudative vitreoretinopathy 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613310"> 613310 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613138"> TSPAN12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613138"> 613138 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/275?start=-3&limit=10&highlight=275"> 11p13-p12 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605750"> Exudative vitreoretinopathy 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605750"> 605750 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605750"> EVR3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605750"> 605750 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/350?start=-3&limit=10&highlight=350"> 11p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616468"> ?Exudative vitreoretinopathy 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616468"> 616468 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616454"> ZNF408 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616454"> 616454 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/683?start=-3&limit=10&highlight=683"> 11q13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601813"> Exudative vitreoretinopathy 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601813"> 601813 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603506"> LRP5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603506"> 603506 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/811?start=-3&limit=10&highlight=811"> 11q14.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/133780"> Exudative vitreoretinopathy 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/133780"> 133780 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604579"> FZD4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
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<p>A number sign (#) is used with this entry because familial exudative vitreoretinopathy-1 (EVR1) is caused by heterozygous mutation in the frizzled-4 gene (FZD4; <a href="/entry/604579">604579</a>) on chromosome 11q14.</p><p>A form of retinopathy of prematurity is also caused by mutation in the FZD4 gene.</p>
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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="#22" 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>
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<p>In 31 Chinese pedigrees clinically diagnosed with FEVR, <a href="#25" class="mim-tip-reference" title="Rao, F.-Q., Cai, X.-B., Cheng, F.-F., Cheng, W., Fang, X.-L., Li, N., Huang, X.-F., Li, L.-H., Jin, Z.-B. <strong>Mutations in LRP5, FZD4, TSPAN12, NDP, ZNF408, or KIF11 genes account for 38.7% of Chinese patients with familial exudative vitreoretinopathy.</strong> Invest. Ophthal. Vis. Sci. 58: 2623-2629, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28494495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28494495</a>] [<a href="https://doi.org/10.1167/iovs.16-21324" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28494495">Rao et al. (2017)</a> analyzed 6 FEVR-associated genes and identified mutations in 12 of the probands, including 5 (16.1%) in LRP5, 3 (9.7%) in NDP, 2 (6.5%) in FZD4, and 1 (3.2%) in TSPAN12. In addition, a mutation in the KIF11 gene (<a href="/entry/148760">148760</a>) was identified in a patient who also exhibited microcephaly (MCLMR; <a href="/entry/152950">152950</a>). The authors noted that their detection rate did not exceed 50%, suggesting that other FEVR-associated genes remained to be discovered. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28494495" 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><strong><em>Genetic Heterogeneity of Familial Exudative Vitreoretinopathy</em></strong>
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<div class="mim-changed mim-change"><p>Also see EVR2 (<a href="/entry/305390">305390</a>), caused by mutation in the NDP gene (<a href="/entry/300658">300658</a>) on Xp11; EVR3 (<a href="/entry/605750">605750</a>), mapped to 11p13-p12; EVR4 (<a href="/entry/601813">601813</a>), caused by mutations in the LRP5 gene (<a href="/entry/603506">603506</a>) on 11q13.4; EVR5 (<a href="/entry/613310">613310</a>), caused by mutation in the TSPAN12 gene (<a href="/entry/613138">613138</a>) on 7q31; EVR6 (<a href="/entry/616468">616468</a>), caused by mutation in the ZNF408 gene (<a href="/entry/616454">616454</a>) on 11p11; and EVR7 (<a href="/entry/617572">617572</a>), caused by mutation in the CTNNB1 gene (<a href="/entry/116806">116806</a>) on 3p22.</p></div>
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<p>Familial exudative vitreoretinopathy was first described by <a href="#4" class="mim-tip-reference" title="Criswick, V. G., Schepens, C. L. <strong>Familial exudative vitreoretinopathy.</strong> Am. J. Ophthal. 68: 578-594, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5394449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5394449</a>] [<a href="https://doi.org/10.1016/0002-9394(69)91237-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5394449">Criswick and Schepens (1969)</a> on the basis of 6 patients in 2 kindreds. The findings bore some similarities to retrolental fibroplasia and to Coats disease (see <a href="/entry/300216">300216</a>). The changes were slowly progressive. Affected children were otherwise healthy. None was premature or treated neonatally with oxygen. Posterior vitreous detachment with organized membranes were found in all quadrants. Vitreoretinal traction was produced by membranes and resulted in displacement of the macula. Snowflake opacities were scattered through the vitreous humor. Localized retinal detachment and displacements and recurrent vitreous hemorrhages from peripheral new vessels were noted. A brother and sister in 1 family were affected. In the other family, 3 brothers and their maternal uncle were affected. A distant male relative related through females was blind, making X-linked recessive inheritance a possibility. This may be the same as congenital falciform retinal detachment (<a href="/entry/221900">221900</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5394449" 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="#8" class="mim-tip-reference" title="Gow, J., Oliver, G. L. <strong>Familial exudative vitreoretinopathy: an expanded view.</strong> Arch. Ophthal. 86: 150-155, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5571414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5571414</a>] [<a href="https://doi.org/10.1001/archopht.1971.01000010152007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5571414">Gow and Oliver (1971)</a> added another series of cases from an extensively affected kindred. <a href="#3" class="mim-tip-reference" title="Canny, C. L. B., Oliver, G. L. <strong>Fluorescein angiographic findings in familial exudative vitreoretinopathy.</strong> Arch. Ophthal. 94: 1114-1120, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/947162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">947162</a>] [<a href="https://doi.org/10.1001/archopht.1976.03910040034006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="947162">Canny and Oliver (1976)</a> divided the clinical course into 3 stages on the basis of studies of Gow and Oliver's pedigree, which in its updated form showed proved or probable cases in 6 successive generations. Under the designation of peripheral retinal neovascularization, <a href="#7" class="mim-tip-reference" title="Gitter, K. A., Rothschild, H., Waltman, D. D., Scott, B., Azar, P. <strong>Dominantly inherited peripheral retinal neovascularization.</strong> Arch. Ophthal. 96: 1601-1605, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/687201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">687201</a>] [<a href="https://doi.org/10.1001/archopht.1978.03910060235009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="687201">Gitter et al. (1978)</a> probably described the same disorder. Nine members of the family showed wide variability in severity and slow progression. Some eyes progressed to vitreous hemorrhage, secondary cataract, and phthisis bulbi. Two other affected members of the family progressed to total retinal detachment. Penetrance is about 100%, but many patients have very mild disease that is detectable with certainty only by fluorescein angiography (<a href="#21" class="mim-tip-reference" title="Ober, R. R., Bird, A. C., Hamilton, A. M., Sehmi, K. <strong>Autosomal dominant exudative vitreoretinopathy.</strong> Brit. J. Ophthal. 64: 112-120, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7362811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7362811</a>] [<a href="https://doi.org/10.1136/bjo.64.2.112" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7362811">Ober et al., 1980</a>). Progression of fundus changes and threat to vision is rare after age 20 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=687201+5571414+947162+7362811" 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>The similarity to retinopathy of prematurity (ROP) or retrolental fibroplasia can be striking (<a href="#29" class="mim-tip-reference" title="Slusher, M. M., Hutton, W. E. <strong>Familial exudative vitreoretinopathy.</strong> Am. J. Ophthal. 87: 152-156, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/434067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">434067</a>] [<a href="https://doi.org/10.1016/0002-9394(79)90134-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="434067">Slusher and Hutton, 1979</a>). In studies of a large Dutch kindred, <a href="#19" class="mim-tip-reference" title="Nijhuis, F. A., Deutman, A. F., Aan de Kerk, A. L. <strong>Fluorescein angiography in mild stages of dominant exudative vitreoretinopathy.</strong> Mod. Probl. Ophthal. 20: 107-114, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/548734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">548734</a>]" pmid="548734">Nijhuis et al. (1979)</a> found fluorescein angiography indispensable in demonstrating the earliest detectable abnormalities of the disorder and in distinguishing affected from unaffected persons. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=548734+434067" 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>In studies of a large German kindred, <a href="#10" class="mim-tip-reference" title="Laqua, H. <strong>Familial exudative vitreoretinopathy.</strong> Albrecht von Graefes Arch. Klin. Exp. Ophthal. 213: 121-133, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6906151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6906151</a>] [<a href="https://doi.org/10.1007/BF00413539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6906151">Laqua (1980)</a> concluded that FEVR is inherited as an autosomal dominant and is a disease primarily of small peripheral vessels leading to fibrovascular mass lesions. <a href="#16" class="mim-tip-reference" title="Miyakubo, H., Inohara, N., Hashimoto, K. <strong>Retinal involvement in familial exudative vitreoretinopathy.</strong> Ophthalmologica 185: 125-135, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7133626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7133626</a>] [<a href="https://doi.org/10.1159/000309234" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7133626">Miyakubo et al. (1982)</a> identified 30 cases in 11 families as well as 4 sporadic cases, all male. In 8 affected members of a family, <a href="#5" class="mim-tip-reference" title="Feldman, E. L., Norris, J. L., Cleasby, G. W. <strong>Autosomal dominant exudative vitreoretinopathy.</strong> Arch. Ophthal. 101: 1532-1535, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6626002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6626002</a>] [<a href="https://doi.org/10.1001/archopht.1983.01040020534004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6626002">Feldman et al. (1983)</a> described clinical findings including retinal detachment, fibrovascular masses with dragged disc and macula, neovascular fronds, and intraretinal deposits. <a href="#15" class="mim-tip-reference" title="Miyakubo, H., Hashimoto, K., Miyakubo, S. <strong>Retinal vascular pattern in familial exudative vitreoretinopathy.</strong> Ophthalmology 91: 1524-1530, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6084219/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6084219</a>] [<a href="https://doi.org/10.1016/s0161-6420(84)34119-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6084219">Miyakubo et al. (1984)</a> proposed a grading system into 5 types. In the Netherlands, <a href="#31" class="mim-tip-reference" title="van Nouhuys, C. E. <strong>Juvenile retinal detachment as a complication of familial exudative vitreoretinopathy.</strong> Fortschr. Ophthal. 86: 221-223, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2759534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2759534</a>]" pmid="2759534">van Nouhuys (1989)</a> observed retinal detachment in 36 (20%) of 180 eyes of 90 persons with FEVR from 17 families. He pointed out that FEVR can give rise to very different types of retinal detachment, such as rhegmatogenous retinal detachment, falciform retinal folds, and exudative retinal detachment. All but one retinal detachment occurred before the age of 30. Traction from vitreous membranes seemed to be the most important cause of retinal detachment; atrophy of the peripheral retina may contribute to the formation of retinal breaks. In 4 eyes of 3 patients from 2 large families with FEVR, <a href="#30" class="mim-tip-reference" title="van Nouhuys, C. E. <strong>Congenital retinal fold as a sign of dominant exudative vitreoretinopathy.</strong> Albrecht von Graefes Arch. Klin. Exp. Ophthal. 217: 55-67, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6911005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6911005</a>] [<a href="https://doi.org/10.1007/BF00410881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6911005">van Nouhuys (1981)</a> found congenital retinal fold (ablatio falciformis congenita), which, he suggested, should be considered a sign rather than a diagnosis. The formation of congenital retinal fold is the consequence of a developmental disorder of retinal vasculature during the last few months of intrauterine life and the folds may even develop after birth. The clinical picture and familial occurrence of many cases of congenital retinal fold previously described were suggestive of dominant exudative vitreoretinopathy, which is a rather common disorder. <a href="#20" class="mim-tip-reference" title="Nishimura, M., Yamana, T., Sugino, M., Kohno, T., Yamana, Y., Minei, M., Sanui, H. <strong>Falciform retinal fold as sign of familial exudative vitreoretinopathy.</strong> Jpn. J. Ophthal. 27: 40-53, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6855020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6855020</a>]" pmid="6855020">Nishimura et al. (1983)</a> likewise found falciform retinal fold as a sign of FEVR. Ida <a href="#14" class="mim-tip-reference" title="Mann, I. <strong>Congenital retinal fold.</strong> Brit. J. Ophthal. 19: 641-658, 1935.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18169329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18169329</a>] [<a href="https://doi.org/10.1136/bjo.19.12.641" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18169329">Mann (1935)</a>, writing about congenital retinal fold, suggested that this 'curious and striking congenital abnormality...is not so rare as the paucity of the literature concerning it would suggest.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6855020+6084219+2759534+6626002+6911005+6906151+18169329+7133626" 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>Familial exudative vitreoretinopathy is reported to have a penetrance of 100%, but clinical features can be highly variable, even within the same family. Severely affected patients may be legally blind during the first decade of life, whereas mildly affected individuals may not be aware of symptoms and may receive a diagnosis only by use of fluorescein angiography. The primary pathologic process in FEVR is believed to be a premature arrest of retinal angiogenesis/vasculogenesis or retinal vascular differentiation, leading to incomplete vascularization of the peripheral retina. This failure to vascularize the peripheral retina is the unifying feature seen in all affected individuals, but, by itself, it usually causes no clinical symptoms. The visual problems in FEVR result from secondary complications due to the development of hyperpermeable blood vessels, neovascularization, and vitreoretinal traction. These features cause a reduction in visual acuity and, in 20% of cases, can lead to partial or total retinal detachment (<a href="#32" class="mim-tip-reference" title="van Nouhuys, C. E. <strong>Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy.</strong> Am. J. Ophthal. 111: 34-41, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1985487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1985487</a>] [<a href="https://doi.org/10.1016/s0002-9394(14)76893-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1985487">van Nouhuys, 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1985487" 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="#24" class="mim-tip-reference" title="Ranchod, T. M., Ho, L. Y., Drenser, K. A., Capone, A., Jr., Trese, M. T. <strong>Clinical presentation of familial exudative vitreoretinopathy.</strong> Ophthalmology 118: 2070-2075, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21868098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21868098</a>] [<a href="https://doi.org/10.1016/j.ophtha.2011.06.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21868098">Ranchod et al. (2011)</a> described the clinical characteristics, staging, and presentation of patients with FEVR in their clinical practice over the foregoing 25 years. They included 273 eyes of 145 patients. Patients were slightly male-predominant (57%) with a mean birth weight of 2.80 kg (range, 740 g-4.76 kg), mean gestational age of 37.8 weeks (range, 25-42) and mean age at presentation of almost 6 years (range, less than 1 month-49 years). A positive family history of FEVR was obtained in 18% of patients. A positive family history of ocular disease consistent with but not diagnosed as FEVR was obtained in an additional 19%. Stage 1 FEVR was identified in 45 eyes, stage 2 in 33 eyes, stage 3 in 42 eyes, stage 4 in 89 eyes, and stage 5 in 44 eyes. Radial retinal folds were seen in 77 eyes, which in 64 were temporal or inferotemporal in location. While the majority of retinal folds extended radially in the temporal quadrants, radial folds were seen in almost all quadrants. Fellow eyes demonstrated a wide variation in symmetry. <a href="#24" class="mim-tip-reference" title="Ranchod, T. M., Ho, L. Y., Drenser, K. A., Capone, A., Jr., Trese, M. T. <strong>Clinical presentation of familial exudative vitreoretinopathy.</strong> Ophthalmology 118: 2070-2075, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21868098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21868098</a>] [<a href="https://doi.org/10.1016/j.ophtha.2011.06.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21868098">Ranchod et al. (2011)</a> concluded that the presentation of FEVR might mimic the presentation of other pediatric and adult vitreoretinal disorders, and careful examination is often crucial in making the diagnosis of FEVR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21868098" 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>The transmission pattern of EVR1 in the families reported by <a href="#28" class="mim-tip-reference" title="Robitaille, J., MacDonald, M. L. E., Kaykas, A., Sheldahl, L. C., Zeisler, J., Dube, M.-P., Zheng, L.-H., Singaraja, R. R., Guernsey, D. L., Zhang, B., Siebert, L. F., Hoskin-Mott, A., Trese, M. T., Pimstone, S. N., Shastry, B. S., Moon, R. T., Hayden, M. R., Goldberg, Y. P., Samuels, M. E. <strong>Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.</strong> Nature Genet. 32: 326-330, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12172548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12172548</a>] [<a href="https://doi.org/10.1038/ng957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12172548">Robitaille et al. (2002)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12172548" 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="#6" class="mim-tip-reference" title="Fulton, A. B., Hansen, R. M., Petersen, R. A., Vanderveen, D. K. <strong>The rod photoreceptors in retinopathy of prematurity: an electroretinographic study.</strong> Arch. Ophthal. 119: 499-505, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11296015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11296015</a>] [<a href="https://doi.org/10.1001/archopht.119.4.499" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11296015">Fulton et al. (2001)</a> studied the electroretinographic (ERG) responses in 25 children characterized by maximum, acute phase retinopathy of prematurity (ROP) ranging from 'none' to 'very severe.' In the none to severe categories, the ERG responses varied significantly with the severity of acute phase ROP. In the very severe category, the ERG responses were too attenuated to calculate the responses. The authors concluded that rod photoreceptors must be involved in ROP. They found that the more severe the acute phase ROP, the more severe the compromise of the processes involved in the activation of phototransduction in the rods. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11296015" 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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<a href="#26" class="mim-tip-reference" title="Robitaille, J. M., Gillett, R. M., LeBlanc, M. A., Gaston, D., Nightingale, M., Mackley, M. P., Parkash, S., Hathaway, J., Thomas, A., Ells, A., Traboulsi, E. I., Heon, E., and 9 others. <strong>Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.</strong> JAMA Ophthal. 132: 1393-1399, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25124931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25124931</a>] [<a href="https://doi.org/10.1001/jamaophthalmol.2014.2814" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25124931">Robitaille et al. (2014)</a> found phenotypic overlap between FEVR and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; <a href="/entry/152950">152950</a>). In 4 of 28 probands with a diagnosis of FEVR made by the referring physician and without a known FEVR gene mutation, the authors identified heterozygous mutations in the KIF11 gene (see, e.g., <a href="/entry/148760#0009">148760.0009</a> and <a href="/entry/148760#0010">148760.0010</a>). At least 1 patient in each pedigree manifested 1 or more of the following features: macular dragging, partial retinal detachment, falciform folds, or total retinal detachment, typical of FEVR. Three of the probands had microcephaly; the fourth was lost to follow-up. <a href="#26" class="mim-tip-reference" title="Robitaille, J. M., Gillett, R. M., LeBlanc, M. A., Gaston, D., Nightingale, M., Mackley, M. P., Parkash, S., Hathaway, J., Thomas, A., Ells, A., Traboulsi, E. I., Heon, E., and 9 others. <strong>Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.</strong> JAMA Ophthal. 132: 1393-1399, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25124931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25124931</a>] [<a href="https://doi.org/10.1001/jamaophthalmol.2014.2814" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25124931">Robitaille et al. (2014)</a> recommended that children presenting with partial or complete retinal detachments at a young age be examined for mild to moderate microcephaly, which could lead to a more precise diagnosis and accurate genetic counseling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25124931" 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="#11" class="mim-tip-reference" title="Li, Y., Fuhrmann, C., Schwinger, E., Gal, A., Laqua, H. <strong>The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11.</strong> Am. J. Ophthal. 113: 712-713, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1598965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1598965</a>] [<a href="https://doi.org/10.1016/s0002-9394(14)74800-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1598965">Li et al. (1992)</a> found a suggestion of linkage to markers on 11q: with INT2 (<a href="/entry/164950">164950</a>) at 11q13 and D11S35 at 11q22-q23, they found peak lod scores of 2.36 and 2.32, respectively, at recombination fractions of 0.10 and 0.07, respectively. They detected about 15% recombination between the 2 markers and concluded that the EVR locus may lie between the 2 markers, with INT2 toward the centromere. <a href="#12" class="mim-tip-reference" title="Li, Y., Muller, B., Fuhrmann, C., van Nouhuys, C. E., Laqua, H., Humphries, P., Schwinger, E., Gal, A. <strong>The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533.</strong> Am. J. Hum. Genet. 51: 749-754, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415220</a>]" pmid="1415220">Li et al. (1992)</a> found the highest 2-point lod score (3.67, at a recombination fraction of 0.07) for the disease locus versus D11S533. Multipoint analysis showed that the EVR locus most likely maps, with a maximum lod score of over 20, between D11S533/D11S527 and D11S35, at recombination rates of 0.147 and 0.104, respectively. Close linkage without recombination (maximum lod score = 11.26) had been found between D11S533 and D11S527. As reviewed by <a href="#17" class="mim-tip-reference" title="Muller, B., Orth, U., van Nouhuys, C. E., Duvigneau, C., Fuhrmann, C., Schwinger, E., Laqua, H., Gal, A. <strong>Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families.</strong> Genomics 20: 317-319, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8020986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8020986</a>] [<a href="https://doi.org/10.1006/geno.1994.1176" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8020986">Muller et al. (1994)</a>, 2-point linkage analysis on a total of 4 families had demonstrated close linkage of EVR1 to D11S873; maximum lod = 8.34 at theta = 0.00. Multipoint linkage analysis mapped the EVR1 locus between D11S527/D11S533 and D11S35 with a maximum lod score of over 11 directly at D11S873. There was no evidence of genetic linkage heterogeneity among the 4 families studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8020986+1415220+1598965" 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>The VMD2 gene (BEST1; <a href="/entry/607854">607854</a>), the causative gene for other forms of macular dystrophy, including vitelliform macular dystrophy (<a href="/entry/153700">153700</a>), maps to approximately the same area. Although these are apparently separate entities caused by mutations in separate genes, those genes may be in a cluster reflecting a common ancestry.</p>
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<p>In affected members of 2 families with the form of FEVR mapping to 11q13-q23, EVR1, <a href="#28" class="mim-tip-reference" title="Robitaille, J., MacDonald, M. L. E., Kaykas, A., Sheldahl, L. C., Zeisler, J., Dube, M.-P., Zheng, L.-H., Singaraja, R. R., Guernsey, D. L., Zhang, B., Siebert, L. F., Hoskin-Mott, A., Trese, M. T., Pimstone, S. N., Shastry, B. S., Moon, R. T., Hayden, M. R., Goldberg, Y. P., Samuels, M. E. <strong>Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.</strong> Nature Genet. 32: 326-330, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12172548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12172548</a>] [<a href="https://doi.org/10.1038/ng957" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12172548">Robitaille et al. (2002)</a> identified mutations in the FZD4 gene (<a href="/entry/604579#0001">604579.0001</a>-<a href="/entry/604579#0002">604579.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12172548" 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="#9" class="mim-tip-reference" title="Kondo, H., Hayashi, H., Oshima, K., Tahira, T., Hayashi, K. <strong>Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.</strong> Brit. J. Ophthal. 87: 1291-1295, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14507768/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14507768</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14507768[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.87.10.1291" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14507768">Kondo et al. (2003)</a>, <a href="#33" class="mim-tip-reference" title="Yoshida, S., Arita, R.-I., Yoshida, A., Tada, H., Emori, A., Noda, Y., Nakao, S., Fujisawa, K., Ishibashi, T. <strong>Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy.</strong> Am. J. Ophthal. 138: 670-671, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15488808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15488808</a>] [<a href="https://doi.org/10.1016/j.ajo.2004.05.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15488808">Yoshida et al. (2004)</a>, and <a href="#23" class="mim-tip-reference" title="Qin, M., Hayashi, H., Oshima, K., Tahira, T., Hayashi, K., Kondo, H. <strong>Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.</strong> Hum. Mutat. 26: 104-112, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15981244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15981244</a>] [<a href="https://doi.org/10.1002/humu.20191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15981244">Qin et al. (2005)</a> identified heterozygous mutations in the FZD4 gene (see, e.g., <a href="/entry/604579#0003">604579.0003</a>-<a href="/entry/604579#0005">604579.0005</a>) in Japanese patients with EVR1. Some asymptomatic parents who carried the mutations showed peripheral retinal avascularization. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15488808+15981244+14507768" 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="#23" class="mim-tip-reference" title="Qin, M., Hayashi, H., Oshima, K., Tahira, T., Hayashi, K., Kondo, H. <strong>Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes.</strong> Hum. Mutat. 26: 104-112, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15981244/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15981244</a>] [<a href="https://doi.org/10.1002/humu.20191" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15981244">Qin et al. (2005)</a> reported a Japanese family with digenic inheritance of EVR. Affected individuals had a heterozygous mutation in the FZD4 gene (<a href="/entry/604579#0003">604579.0003</a>) and a heterozygous mutation in the LRP5 gene (<a href="/entry/603506#0026">603506.0026</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15981244" 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>Of 68 probands diagnosed as having autosomal dominant or sporadic FEVR, <a href="#27" class="mim-tip-reference" title="Robitaille, J. M., Zheng, B., Wallace, K., Beis, M. J., Tatlidil, C., Yang, J., Sheidow, T. G., Siebert, L., Levin, A. V., Lam, W.-C., Arthur, B. W., Lyons, C. J., Jaakkola, E., Tsilou, E., Williams, C. A., Weaver, R. G., Jr., Shields, C. L., Guernsey, D. L. <strong>The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease.</strong> Brit. J. Ophthal. 95: 574-579, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21097938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21097938</a>] [<a href="https://doi.org/10.1136/bjo.2010.190116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21097938">Robitaille et al. (2011)</a> identified 11 different FZD4 mutations (5 missense, 3 deletions, 1 insertion, 2 nonsense) in 12 probands. Six of these mutations were novel, and none were found in 346 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21097938" 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><strong><em>Retinopathy of Prematurity</em></strong></p><p>
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In an infant with advanced retinopathy of prematurity, <a href="#13" class="mim-tip-reference" title="MacDonald, M. L. E., Goldberg, Y. P., MacFarlane, J., Samuels, M. E., Trese, M. T., Shastry, B. S. <strong>Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. (Letter)</strong> Clin. Genet. 67: 363-366, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15733276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15733276</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2005.00408.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15733276">MacDonald et al. (2005)</a> identified heterozygosity for a mutation in the FZD4 gene (<a href="/entry/604579#0006">604579.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15733276" 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><strong><em>Associations Pending Confirmation</em></strong></p><p>
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By whole-exome sequencing in a cohort of 49 families with FEVR without pathologic variants in known FEVR-associated genes, <a href="#34" class="mim-tip-reference" title="Zhang, L., Zhang, X., Xu, H., Huang, L., Zhang, S., Liu, W., Yang, Y., Fei, P., Li, S., Yang, M., Zhao, P., Zhu, X., Yang, Z. <strong>Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy.</strong> Genet. Med. 22: 77-84, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31273345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31273345</a>] [<a href="https://doi.org/10.1038/s41436-019-0571-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31273345">Zhang et al. (2020)</a> identified 6 patients in 3 families who were heterozygous for missense mutations in the JAG1 gene. In family 1, a father and daughter were affected. The 21-year-old daughter experienced retinal detachment in her right eye, and fundus examination and fluorescein angiography (FFA) showed temporal tortuous retinal vessels and peripheral ischemia, resulting in neovascularization and telangiectasis. Her father had similar changes, with a peripheral retina that was not fully vascularized and adjacent brush-shaped peripheral retinal vessels with staining of peripheral chorioretinal atrophy. In family 2, a mother and son showed typical FEVR phenotypes. The son had partial retinal detachment, falciform folds, and cataracts due to retinal fibrovascular proliferation. His mother had peripheral avascular retina and dilated peripheral retinal vessels with fluorescein leakage at the late stage of fundus fluorescein angiography. In family 3, a mother and son were diagnosed with FEVR by an ophthalmologist. Examination of other systems, such as might be affected in Alagille syndrome (see <a href="/entry/118450">118450</a>), was not reported in the 3 families. The missense variants segregated with disease in each family, involved highly conserved residues, and were not found in an in-house database of 2,805 geographically matched individuals or in 2,500 ethnicity-matched controls. Two of the variants were present in the gnomAD database at relatively high frequencies, which the authors suggested could be due to the incomplete penetrance and variable expressivity of FEVR, with apparently unaffected individuals being included in the database. Expression and localization of the mutant proteins was unaffected compared to wildtype JAG1; however, luciferase assays in transfected NIH3T3 cells showed reductions in activity from approximately 50% to nearly 100% with the mutants compared to wildtype JAG1. The authors stated that this was the first report of possible involvement of JAG1 in the pathogenesis of FEVR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31273345" 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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<a href="#Boldrey1985" class="mim-tip-reference" title="Boldrey, E. E., Egbert, P., Gass, J. D. M., Friberg, T. <strong>The histopathology of familial exudative vitreoretinopathy: a report of two cases.</strong> Arch. Ophthal. 103: 238-241, 1985.">Boldrey et al. (1985)</a>; <a href="#Brockhurst1981" class="mim-tip-reference" title="Brockhurst, R. J., Albert, D. M., Zakov, Z. N. <strong>Pathologic findings in familial exudative vitreoretinopathy.</strong> Arch. Ophthal. 99: 2143-2146, 1981.">Brockhurst et al. (1981)</a>; <a href="#Nicholson1984" class="mim-tip-reference" title="Nicholson, D. H., Galvis, V. <strong>Criswick-Schepens syndrome (familial exudative vitreoretinopathy): study of a Colombian kindred.</strong> Arch. Ophthal. 102: 1519-1522, 1984.">Nicholson and Galvis
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Boldrey, E. E., Egbert, P., Gass, J. D. M., Friberg, T.
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<strong>The histopathology of familial exudative vitreoretinopathy: a report of two cases.</strong>
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Arch. Ophthal. 103: 238-241, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3977696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3977696</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3977696" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Brockhurst, R. J., Albert, D. M., Zakov, Z. N.
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<strong>Pathologic findings in familial exudative vitreoretinopathy.</strong>
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Arch. Ophthal. 99: 2143-2146, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7305712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7305712</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7305712" 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/10.1001/archopht.1981.03930021019006" target="_blank">Full Text</a>]
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Canny, C. L. B., Oliver, G. L.
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Arch. Ophthal. 94: 1114-1120, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/947162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">947162</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=947162" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Criswick, V. G., Schepens, C. L.
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<strong>Familial exudative vitreoretinopathy.</strong>
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Am. J. Ophthal. 68: 578-594, 1969.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5394449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5394449</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5394449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Feldman, E. L., Norris, J. L., Cleasby, G. W.
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<strong>Autosomal dominant exudative vitreoretinopathy.</strong>
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Arch. Ophthal. 101: 1532-1535, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6626002/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6626002</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6626002" 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/10.1001/archopht.1983.01040020534004" target="_blank">Full Text</a>]
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Fulton, A. B., Hansen, R. M., Petersen, R. A., Vanderveen, D. K.
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<strong>The rod photoreceptors in retinopathy of prematurity: an electroretinographic study.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11296015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11296015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11296015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Dominantly inherited peripheral retinal neovascularization.</strong>
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Arch. Ophthal. 96: 1601-1605, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/687201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">687201</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=687201" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gow, J., Oliver, G. L.
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<strong>Familial exudative vitreoretinopathy: an expanded view.</strong>
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[<a href="https://doi.org/10.1001/archopht.1971.01000010152007" target="_blank">Full Text</a>]
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<strong>Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity.</strong>
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[<a href="https://doi.org/10.1136/bjo.87.10.1291" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00413539" target="_blank">Full Text</a>]
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<strong>The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11.</strong>
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[<a href="https://doi.org/10.1016/s0002-9394(14)74800-7" target="_blank">Full Text</a>]
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<strong>The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533.</strong>
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[<a href="https://doi.org/10.1136/bjo.19.12.641" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0161-6420(84)34119-7" target="_blank">Full Text</a>]
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<strong>Retinal involvement in familial exudative vitreoretinopathy.</strong>
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[<a href="https://doi.org/10.1159/000309234" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1994.1176" target="_blank">Full Text</a>]
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<strong>Criswick-Schepens syndrome (familial exudative vitreoretinopathy): study of a Colombian kindred.</strong>
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[<a href="https://doi.org/10.1001/archopht.1984.01040031239027" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/bjo.64.2.112" target="_blank">Full Text</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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[<a href="https://doi.org/10.1002/humu.20191" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ophtha.2011.06.020" target="_blank">Full Text</a>]
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<strong>Mutations in LRP5, FZD4, TSPAN12, NDP, ZNF408, or KIF11 genes account for 38.7% of Chinese patients with familial exudative vitreoretinopathy.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28494495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28494495</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28494495" 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/10.1167/iovs.16-21324" target="_blank">Full Text</a>]
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<a id="26" class="mim-anchor"></a>
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<a id="Robitaille2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Robitaille, J. M., Gillett, R. M., LeBlanc, M. A., Gaston, D., Nightingale, M., Mackley, M. P., Parkash, S., Hathaway, J., Thomas, A., Ells, A., Traboulsi, E. I., Heon, E., and 9 others.
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<strong>Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.</strong>
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JAMA Ophthal. 132: 1393-1399, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25124931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25124931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25124931" 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/10.1001/jamaophthalmol.2014.2814" target="_blank">Full Text</a>]
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<a id="27" class="mim-anchor"></a>
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<a id="Robitaille2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Robitaille, J. M., Zheng, B., Wallace, K., Beis, M. J., Tatlidil, C., Yang, J., Sheidow, T. G., Siebert, L., Levin, A. V., Lam, W.-C., Arthur, B. W., Lyons, C. J., Jaakkola, E., Tsilou, E., Williams, C. A., Weaver, R. G., Jr., Shields, C. L., Guernsey, D. L.
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<strong>The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease.</strong>
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Brit. J. Ophthal. 95: 574-579, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21097938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21097938</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21097938" 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.2010.190116" target="_blank">Full Text</a>]
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<a id="28" class="mim-anchor"></a>
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<a id="Robitaille2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Robitaille, J., MacDonald, M. L. E., Kaykas, A., Sheldahl, L. C., Zeisler, J., Dube, M.-P., Zheng, L.-H., Singaraja, R. R., Guernsey, D. L., Zhang, B., Siebert, L. F., Hoskin-Mott, A., Trese, M. T., Pimstone, S. N., Shastry, B. S., Moon, R. T., Hayden, M. R., Goldberg, Y. P., Samuels, M. E.
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<strong>Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.</strong>
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Nature Genet. 32: 326-330, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12172548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12172548</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12172548" 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/10.1038/ng957" target="_blank">Full Text</a>]
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<a id="29" class="mim-anchor"></a>
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<a id="Slusher1979" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Slusher, M. M., Hutton, W. E.
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<strong>Familial exudative vitreoretinopathy.</strong>
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Am. J. Ophthal. 87: 152-156, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/434067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">434067</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=434067" 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/10.1016/0002-9394(79)90134-x" target="_blank">Full Text</a>]
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<a id="30" class="mim-anchor"></a>
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<a id="van Nouhuys1981" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Nouhuys, C. E.
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<strong>Congenital retinal fold as a sign of dominant exudative vitreoretinopathy.</strong>
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Albrecht von Graefes Arch. Klin. Exp. Ophthal. 217: 55-67, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6911005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6911005</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6911005" 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/10.1007/BF00410881" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
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<a id="van Nouhuys1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Nouhuys, C. E.
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<strong>Juvenile retinal detachment as a complication of familial exudative vitreoretinopathy.</strong>
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Fortschr. Ophthal. 86: 221-223, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2759534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2759534</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2759534" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="32" class="mim-anchor"></a>
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<a id="van Nouhuys1991" class="mim-anchor"></a>
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<div class="">
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van Nouhuys, C. E.
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<strong>Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy.</strong>
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Am. J. Ophthal. 111: 34-41, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1985487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1985487</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1985487" 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/s0002-9394(14)76893-x" target="_blank">Full Text</a>]
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<a id="33" class="mim-anchor"></a>
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<a id="Yoshida2004" class="mim-anchor"></a>
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Yoshida, S., Arita, R.-I., Yoshida, A., Tada, H., Emori, A., Noda, Y., Nakao, S., Fujisawa, K., Ishibashi, T.
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<strong>Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy.</strong>
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Am. J. Ophthal. 138: 670-671, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15488808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15488808</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15488808" 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.ajo.2004.05.001" target="_blank">Full Text</a>]
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<a id="34" class="mim-anchor"></a>
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<a id="Zhang2020" class="mim-anchor"></a>
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Zhang, L., Zhang, X., Xu, H., Huang, L., Zhang, S., Liu, W., Yang, Y., Fei, P., Li, S., Yang, M., Zhao, P., Zhu, X., Yang, Z.
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<strong>Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy.</strong>
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Genet. Med. 22: 77-84, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31273345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31273345</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31273345" 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/10.1038/s41436-019-0571-5" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 03/02/2022
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Marla J. F. O'Neill - updated : 12/18/2017<br>Marla J. F. O'Neill - updated : 07/14/2017<br>Jane Kelly - updated : 6/9/2015<br>Jane Kelly - updated : 2/16/2012<br>Jane Kelly - updated : 12/21/2011<br>Marla J. F. O'Neill - updated : 3/18/2010<br>Jane Kelly - updated : 9/13/2006<br>Cassandra L. Kniffin - updated : 8/14/2006<br>Victor A. McKusick - updated : 4/8/2004<br>Victor A. McKusick - updated : 8/19/2002<br>Jane Kelly - updated : 7/17/2001<br>Iosif W. Lurie - updated : 12/4/1996
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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carol : 01/03/2025
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carol : 04/12/2024<br>alopez : 04/11/2024<br>alopez : 03/02/2022<br>alopez : 12/18/2017<br>carol : 07/14/2017<br>carol : 03/03/2016<br>alopez : 7/21/2015<br>mcolton : 7/16/2015<br>carol : 6/9/2015<br>mcolton : 6/9/2015<br>carol : 6/9/2015<br>carol : 4/10/2014<br>tpirozzi : 7/12/2013<br>alopez : 2/16/2012<br>alopez : 2/16/2012<br>carol : 12/21/2011<br>terry : 12/21/2011<br>carol : 8/23/2011<br>carol : 3/18/2010<br>terry : 9/18/2007<br>wwang : 8/16/2007<br>carol : 8/13/2007<br>carol : 7/27/2007<br>wwang : 10/12/2006<br>carol : 9/13/2006<br>wwang : 8/23/2006<br>wwang : 8/23/2006<br>ckniffin : 8/14/2006<br>carol : 11/29/2005<br>alopez : 10/25/2004<br>tkritzer : 4/26/2004<br>tkritzer : 4/16/2004<br>terry : 4/8/2004<br>tkritzer : 2/4/2004<br>carol : 11/3/2003<br>carol : 10/19/2003<br>alopez : 10/18/2002<br>alopez : 8/20/2002<br>alopez : 8/20/2002<br>terry : 8/19/2002<br>carol : 7/17/2001<br>mgross : 11/4/1999<br>alopez : 7/29/1997<br>alopez : 7/7/1997<br>jamie : 12/6/1996<br>jamie : 12/4/1996<br>mimadm : 9/24/1994<br>davew : 8/24/1994<br>carol : 4/4/1994<br>carol : 12/3/1992<br>carol : 10/22/1992<br>carol : 10/21/1992
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<strong>#</strong> 133780
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EXUDATIVE VITREORETINOPATHY 1; EVR1
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EXUDATIVE VITREORETINOPATHY, FAMILIAL, AUTOSOMAL DOMINANT<br />
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FEVR, AUTOSOMAL DOMINANT<br />
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CRISWICK-SCHEPENS SYNDROME
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Other entities represented in this entry:
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<span class="h3 mim-font">
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RETINOPATHY OF PREMATURITY, INCLUDED; ROP, INCLUDED
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<strong>SNOMEDCT:</strong> 415297005;
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<strong>ICD10CM:</strong> H35.1, H35.10, H35.17;
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<strong>ICD9CM:</strong> 362.20, 362.21;
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<strong>ORPHA:</strong> 891, 90050;
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<strong>DO:</strong> 0111412;
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed 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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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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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>
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<span class="mim-font">
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11q14.2
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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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Retinopathy of prematurity
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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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133780
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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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Autosomal dominant
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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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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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FZD4
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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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604579
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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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11q14.2
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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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Exudative vitreoretinopathy 1
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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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133780
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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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Autosomal dominant
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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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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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FZD4
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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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604579
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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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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because familial exudative vitreoretinopathy-1 (EVR1) is caused by heterozygous mutation in the frizzled-4 gene (FZD4; 604579) on chromosome 11q14.</p><p>A form of retinopathy of prematurity is also caused by mutation in the FZD4 gene.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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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>In 31 Chinese pedigrees clinically diagnosed with FEVR, Rao et al. (2017) analyzed 6 FEVR-associated genes and identified mutations in 12 of the probands, including 5 (16.1%) in LRP5, 3 (9.7%) in NDP, 2 (6.5%) in FZD4, and 1 (3.2%) in TSPAN12. In addition, a mutation in the KIF11 gene (148760) was identified in a patient who also exhibited microcephaly (MCLMR; 152950). The authors noted that their detection rate did not exceed 50%, suggesting that other FEVR-associated genes remained to be discovered. </p><p><strong><em>Genetic Heterogeneity of Familial Exudative Vitreoretinopathy</em></strong></p><p>
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Also see EVR2 (305390), caused by mutation in the NDP gene (300658) on Xp11; EVR3 (605750), mapped to 11p13-p12; EVR4 (601813), caused by mutations in the LRP5 gene (603506) on 11q13.4; EVR5 (613310), caused by mutation in the TSPAN12 gene (613138) on 7q31; EVR6 (616468), caused by mutation in the ZNF408 gene (616454) on 11p11; and EVR7 (617572), caused by mutation in the CTNNB1 gene (116806) on 3p22.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Familial exudative vitreoretinopathy was first described by Criswick and Schepens (1969) on the basis of 6 patients in 2 kindreds. The findings bore some similarities to retrolental fibroplasia and to Coats disease (see 300216). The changes were slowly progressive. Affected children were otherwise healthy. None was premature or treated neonatally with oxygen. Posterior vitreous detachment with organized membranes were found in all quadrants. Vitreoretinal traction was produced by membranes and resulted in displacement of the macula. Snowflake opacities were scattered through the vitreous humor. Localized retinal detachment and displacements and recurrent vitreous hemorrhages from peripheral new vessels were noted. A brother and sister in 1 family were affected. In the other family, 3 brothers and their maternal uncle were affected. A distant male relative related through females was blind, making X-linked recessive inheritance a possibility. This may be the same as congenital falciform retinal detachment (221900). </p><p>Gow and Oliver (1971) added another series of cases from an extensively affected kindred. Canny and Oliver (1976) divided the clinical course into 3 stages on the basis of studies of Gow and Oliver's pedigree, which in its updated form showed proved or probable cases in 6 successive generations. Under the designation of peripheral retinal neovascularization, Gitter et al. (1978) probably described the same disorder. Nine members of the family showed wide variability in severity and slow progression. Some eyes progressed to vitreous hemorrhage, secondary cataract, and phthisis bulbi. Two other affected members of the family progressed to total retinal detachment. Penetrance is about 100%, but many patients have very mild disease that is detectable with certainty only by fluorescein angiography (Ober et al., 1980). Progression of fundus changes and threat to vision is rare after age 20 years. </p><p>The similarity to retinopathy of prematurity (ROP) or retrolental fibroplasia can be striking (Slusher and Hutton, 1979). In studies of a large Dutch kindred, Nijhuis et al. (1979) found fluorescein angiography indispensable in demonstrating the earliest detectable abnormalities of the disorder and in distinguishing affected from unaffected persons. </p><p>In studies of a large German kindred, Laqua (1980) concluded that FEVR is inherited as an autosomal dominant and is a disease primarily of small peripheral vessels leading to fibrovascular mass lesions. Miyakubo et al. (1982) identified 30 cases in 11 families as well as 4 sporadic cases, all male. In 8 affected members of a family, Feldman et al. (1983) described clinical findings including retinal detachment, fibrovascular masses with dragged disc and macula, neovascular fronds, and intraretinal deposits. Miyakubo et al. (1984) proposed a grading system into 5 types. In the Netherlands, van Nouhuys (1989) observed retinal detachment in 36 (20%) of 180 eyes of 90 persons with FEVR from 17 families. He pointed out that FEVR can give rise to very different types of retinal detachment, such as rhegmatogenous retinal detachment, falciform retinal folds, and exudative retinal detachment. All but one retinal detachment occurred before the age of 30. Traction from vitreous membranes seemed to be the most important cause of retinal detachment; atrophy of the peripheral retina may contribute to the formation of retinal breaks. In 4 eyes of 3 patients from 2 large families with FEVR, van Nouhuys (1981) found congenital retinal fold (ablatio falciformis congenita), which, he suggested, should be considered a sign rather than a diagnosis. The formation of congenital retinal fold is the consequence of a developmental disorder of retinal vasculature during the last few months of intrauterine life and the folds may even develop after birth. The clinical picture and familial occurrence of many cases of congenital retinal fold previously described were suggestive of dominant exudative vitreoretinopathy, which is a rather common disorder. Nishimura et al. (1983) likewise found falciform retinal fold as a sign of FEVR. Ida Mann (1935), writing about congenital retinal fold, suggested that this 'curious and striking congenital abnormality...is not so rare as the paucity of the literature concerning it would suggest.' </p><p>Familial exudative vitreoretinopathy is reported to have a penetrance of 100%, but clinical features can be highly variable, even within the same family. Severely affected patients may be legally blind during the first decade of life, whereas mildly affected individuals may not be aware of symptoms and may receive a diagnosis only by use of fluorescein angiography. The primary pathologic process in FEVR is believed to be a premature arrest of retinal angiogenesis/vasculogenesis or retinal vascular differentiation, leading to incomplete vascularization of the peripheral retina. This failure to vascularize the peripheral retina is the unifying feature seen in all affected individuals, but, by itself, it usually causes no clinical symptoms. The visual problems in FEVR result from secondary complications due to the development of hyperpermeable blood vessels, neovascularization, and vitreoretinal traction. These features cause a reduction in visual acuity and, in 20% of cases, can lead to partial or total retinal detachment (van Nouhuys, 1991). </p><p>Ranchod et al. (2011) described the clinical characteristics, staging, and presentation of patients with FEVR in their clinical practice over the foregoing 25 years. They included 273 eyes of 145 patients. Patients were slightly male-predominant (57%) with a mean birth weight of 2.80 kg (range, 740 g-4.76 kg), mean gestational age of 37.8 weeks (range, 25-42) and mean age at presentation of almost 6 years (range, less than 1 month-49 years). A positive family history of FEVR was obtained in 18% of patients. A positive family history of ocular disease consistent with but not diagnosed as FEVR was obtained in an additional 19%. Stage 1 FEVR was identified in 45 eyes, stage 2 in 33 eyes, stage 3 in 42 eyes, stage 4 in 89 eyes, and stage 5 in 44 eyes. Radial retinal folds were seen in 77 eyes, which in 64 were temporal or inferotemporal in location. While the majority of retinal folds extended radially in the temporal quadrants, radial folds were seen in almost all quadrants. Fellow eyes demonstrated a wide variation in symmetry. Ranchod et al. (2011) concluded that the presentation of FEVR might mimic the presentation of other pediatric and adult vitreoretinal disorders, and careful examination is often crucial in making the diagnosis of FEVR. </p>
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</span>
|
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Inheritance</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>The transmission pattern of EVR1 in the families reported by Robitaille et al. (2002) was consistent with autosomal dominant inheritance. </p>
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</span>
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Other Features</strong>
|
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</span>
|
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Fulton et al. (2001) studied the electroretinographic (ERG) responses in 25 children characterized by maximum, acute phase retinopathy of prematurity (ROP) ranging from 'none' to 'very severe.' In the none to severe categories, the ERG responses varied significantly with the severity of acute phase ROP. In the very severe category, the ERG responses were too attenuated to calculate the responses. The authors concluded that rod photoreceptors must be involved in ROP. They found that the more severe the acute phase ROP, the more severe the compromise of the processes involved in the activation of phototransduction in the rods. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Diagnosis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p><strong><em>Differential Diagnosis</em></strong></p><p>
|
|
Robitaille et al. (2014) found phenotypic overlap between FEVR and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR; 152950). In 4 of 28 probands with a diagnosis of FEVR made by the referring physician and without a known FEVR gene mutation, the authors identified heterozygous mutations in the KIF11 gene (see, e.g., 148760.0009 and 148760.0010). At least 1 patient in each pedigree manifested 1 or more of the following features: macular dragging, partial retinal detachment, falciform folds, or total retinal detachment, typical of FEVR. Three of the probands had microcephaly; the fourth was lost to follow-up. Robitaille et al. (2014) recommended that children presenting with partial or complete retinal detachments at a young age be examined for mild to moderate microcephaly, which could lead to a more precise diagnosis and accurate genetic counseling. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Li et al. (1992) found a suggestion of linkage to markers on 11q: with INT2 (164950) at 11q13 and D11S35 at 11q22-q23, they found peak lod scores of 2.36 and 2.32, respectively, at recombination fractions of 0.10 and 0.07, respectively. They detected about 15% recombination between the 2 markers and concluded that the EVR locus may lie between the 2 markers, with INT2 toward the centromere. Li et al. (1992) found the highest 2-point lod score (3.67, at a recombination fraction of 0.07) for the disease locus versus D11S533. Multipoint analysis showed that the EVR locus most likely maps, with a maximum lod score of over 20, between D11S533/D11S527 and D11S35, at recombination rates of 0.147 and 0.104, respectively. Close linkage without recombination (maximum lod score = 11.26) had been found between D11S533 and D11S527. As reviewed by Muller et al. (1994), 2-point linkage analysis on a total of 4 families had demonstrated close linkage of EVR1 to D11S873; maximum lod = 8.34 at theta = 0.00. Multipoint linkage analysis mapped the EVR1 locus between D11S527/D11S533 and D11S35 with a maximum lod score of over 11 directly at D11S873. There was no evidence of genetic linkage heterogeneity among the 4 families studied. </p><p>The VMD2 gene (BEST1; 607854), the causative gene for other forms of macular dystrophy, including vitelliform macular dystrophy (153700), maps to approximately the same area. Although these are apparently separate entities caused by mutations in separate genes, those genes may be in a cluster reflecting a common ancestry.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of 2 families with the form of FEVR mapping to 11q13-q23, EVR1, Robitaille et al. (2002) identified mutations in the FZD4 gene (604579.0001-604579.0002). </p><p>Kondo et al. (2003), Yoshida et al. (2004), and Qin et al. (2005) identified heterozygous mutations in the FZD4 gene (see, e.g., 604579.0003-604579.0005) in Japanese patients with EVR1. Some asymptomatic parents who carried the mutations showed peripheral retinal avascularization. </p><p>Qin et al. (2005) reported a Japanese family with digenic inheritance of EVR. Affected individuals had a heterozygous mutation in the FZD4 gene (604579.0003) and a heterozygous mutation in the LRP5 gene (603506.0026). </p><p>Of 68 probands diagnosed as having autosomal dominant or sporadic FEVR, Robitaille et al. (2011) identified 11 different FZD4 mutations (5 missense, 3 deletions, 1 insertion, 2 nonsense) in 12 probands. Six of these mutations were novel, and none were found in 346 control chromosomes. </p><p><strong><em>Retinopathy of Prematurity</em></strong></p><p>
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|
In an infant with advanced retinopathy of prematurity, MacDonald et al. (2005) identified heterozygosity for a mutation in the FZD4 gene (604579.0006). </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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|
By whole-exome sequencing in a cohort of 49 families with FEVR without pathologic variants in known FEVR-associated genes, Zhang et al. (2020) identified 6 patients in 3 families who were heterozygous for missense mutations in the JAG1 gene. In family 1, a father and daughter were affected. The 21-year-old daughter experienced retinal detachment in her right eye, and fundus examination and fluorescein angiography (FFA) showed temporal tortuous retinal vessels and peripheral ischemia, resulting in neovascularization and telangiectasis. Her father had similar changes, with a peripheral retina that was not fully vascularized and adjacent brush-shaped peripheral retinal vessels with staining of peripheral chorioretinal atrophy. In family 2, a mother and son showed typical FEVR phenotypes. The son had partial retinal detachment, falciform folds, and cataracts due to retinal fibrovascular proliferation. His mother had peripheral avascular retina and dilated peripheral retinal vessels with fluorescein leakage at the late stage of fundus fluorescein angiography. In family 3, a mother and son were diagnosed with FEVR by an ophthalmologist. Examination of other systems, such as might be affected in Alagille syndrome (see 118450), was not reported in the 3 families. The missense variants segregated with disease in each family, involved highly conserved residues, and were not found in an in-house database of 2,805 geographically matched individuals or in 2,500 ethnicity-matched controls. Two of the variants were present in the gnomAD database at relatively high frequencies, which the authors suggested could be due to the incomplete penetrance and variable expressivity of FEVR, with apparently unaffected individuals being included in the database. Expression and localization of the mutant proteins was unaffected compared to wildtype JAG1; however, luciferase assays in transfected NIH3T3 cells showed reductions in activity from approximately 50% to nearly 100% with the mutants compared to wildtype JAG1. The authors stated that this was the first report of possible involvement of JAG1 in the pathogenesis of FEVR. </p>
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</span>
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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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<h4>
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<span class="mim-font">
|
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
|
Boldrey et al. (1985); Brockhurst et al. (1981); Nicholson and Galvis
|
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(1984)
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</span>
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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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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
|
Boldrey, E. E., Egbert, P., Gass, J. D. M., Friberg, T.
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<strong>The histopathology of familial exudative vitreoretinopathy: a report of two cases.</strong>
|
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Arch. Ophthal. 103: 238-241, 1985.
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[PubMed: 3977696]
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[Full Text: https://doi.org/10.1001/archopht.1985.01050020090029]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Brockhurst, R. J., Albert, D. M., Zakov, Z. N.
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<strong>Pathologic findings in familial exudative vitreoretinopathy.</strong>
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Arch. Ophthal. 99: 2143-2146, 1981.
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[PubMed: 7305712]
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[Full Text: https://doi.org/10.1001/archopht.1981.03930021019006]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Canny, C. L. B., Oliver, G. L.
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<strong>Fluorescein angiographic findings in familial exudative vitreoretinopathy.</strong>
|
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Arch. Ophthal. 94: 1114-1120, 1976.
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[PubMed: 947162]
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[Full Text: https://doi.org/10.1001/archopht.1976.03910040034006]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Criswick, V. G., Schepens, C. L.
|
|
<strong>Familial exudative vitreoretinopathy.</strong>
|
|
Am. J. Ophthal. 68: 578-594, 1969.
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[PubMed: 5394449]
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[Full Text: https://doi.org/10.1016/0002-9394(69)91237-9]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Feldman, E. L., Norris, J. L., Cleasby, G. W.
|
|
<strong>Autosomal dominant exudative vitreoretinopathy.</strong>
|
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Arch. Ophthal. 101: 1532-1535, 1983.
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[PubMed: 6626002]
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Marla J. F. O'Neill - updated : 03/02/2022<br>Marla J. F. O'Neill - updated : 12/18/2017<br>Marla J. F. O'Neill - updated : 07/14/2017<br>Jane Kelly - updated : 6/9/2015<br>Jane Kelly - updated : 2/16/2012<br>Jane Kelly - updated : 12/21/2011<br>Marla J. F. O'Neill - updated : 3/18/2010<br>Jane Kelly - updated : 9/13/2006<br>Cassandra L. Kniffin - updated : 8/14/2006<br>Victor A. McKusick - updated : 4/8/2004<br>Victor A. McKusick - updated : 8/19/2002<br>Jane Kelly - updated : 7/17/2001<br>Iosif W. Lurie - updated : 12/4/1996
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Victor A. McKusick : 6/4/1986
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carol : 01/03/2025<br>carol : 04/12/2024<br>alopez : 04/11/2024<br>alopez : 03/02/2022<br>alopez : 12/18/2017<br>carol : 07/14/2017<br>carol : 03/03/2016<br>alopez : 7/21/2015<br>mcolton : 7/16/2015<br>carol : 6/9/2015<br>mcolton : 6/9/2015<br>carol : 6/9/2015<br>carol : 4/10/2014<br>tpirozzi : 7/12/2013<br>alopez : 2/16/2012<br>alopez : 2/16/2012<br>carol : 12/21/2011<br>terry : 12/21/2011<br>carol : 8/23/2011<br>carol : 3/18/2010<br>terry : 9/18/2007<br>wwang : 8/16/2007<br>carol : 8/13/2007<br>carol : 7/27/2007<br>wwang : 10/12/2006<br>carol : 9/13/2006<br>wwang : 8/23/2006<br>wwang : 8/23/2006<br>ckniffin : 8/14/2006<br>carol : 11/29/2005<br>alopez : 10/25/2004<br>tkritzer : 4/26/2004<br>tkritzer : 4/16/2004<br>terry : 4/8/2004<br>tkritzer : 2/4/2004<br>carol : 11/3/2003<br>carol : 10/19/2003<br>alopez : 10/18/2002<br>alopez : 8/20/2002<br>alopez : 8/20/2002<br>terry : 8/19/2002<br>carol : 7/17/2001<br>mgross : 11/4/1999<br>alopez : 7/29/1997<br>alopez : 7/7/1997<br>jamie : 12/6/1996<br>jamie : 12/4/1996<br>mimadm : 9/24/1994<br>davew : 8/24/1994<br>carol : 4/4/1994<br>carol : 12/3/1992<br>carol : 10/22/1992<br>carol : 10/21/1992
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