2579 lines
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Entry
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- #193220 - VITREORETINOCHOROIDOPATHY; VRCP
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- OMIM
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<p>
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<span class="h4">#193220</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/193220"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div><a href="https://clinicaltrials.gov/search?cond=VITREORETINOCHOROIDOPATHY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#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 id="mimEuroGentestFold" class="collapse">
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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=20046&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">MRCS syndrome </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2769&Typ=Pat" title="Autosomal dominant vitreoretinochoroidopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Autosomal dominant vitreor… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1167/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7409" 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://medlineplus.gov/genetics/condition/autosomal-dominant-vitreoretinochoroidopathy" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=193220[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=263347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">MRCS syndrome</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3086" title="Autosomal dominant vitreoretinochoroidopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Autosomal dominant vitreor…</a></div>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111569" 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/193220" 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://omia.org/results?search_type=advanced&omia_id=001444,001553,001554" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111569" 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="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 711162004<br />
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<strong>ORPHA:</strong> 263347, 3086<br />
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<strong>DO:</strong> 0111569<br />
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">ICD+</a>
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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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193220
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</span>
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</span>
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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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VITREORETINOCHOROIDOPATHY; VRCP
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<div>
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<h4>
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<span class="mim-font">
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VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT; ADVIRC<br />
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VITREORETINOCHOROIDOPATHY WITH MICROCORNEA, GLAUCOMA, AND CATARACT<br />
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VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS
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</span>
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</h4>
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<br />
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<a id="includedTitles" class="mim-anchor"></a>
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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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<div>
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<span class="h3 mim-font">
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MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 2, INCLUDED; MRCS2, INCLUDED
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</span>
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</div>
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<div>
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<br />
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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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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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Location
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Phenotype
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<th>
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|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/467?start=-3&limit=10&highlight=467">
|
|
11q12.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Vitreoretinochoroidopathy
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/193220"> 193220 </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">
|
|
BEST1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607854"> 607854 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/467?start=-3&limit=10&highlight=467">
|
|
11q12.3
|
|
</a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/193220"> 193220 </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">
|
|
BEST1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607854"> 607854 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
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|
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|
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|
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<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/193220" 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')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
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|
|
|
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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/193220" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/193220" 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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|
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|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Night blindness onset during teen years <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674010</a>]</span><br /> -
|
|
Cataracts, pulverulent <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1003884001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1003884001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833118&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833118</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010693</a>]</span><br /> -
|
|
Microphthalmia (some) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
|
|
Dyschromatopsia (some) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0858618&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0858618</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007641" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007641</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007641" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007641</a>]</span><br /> -
|
|
Vitreoretinochoroidopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/711162004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">711162004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3888099&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3888099</a>]</span><br /> -
|
|
Punctate white opacities in the retina <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674013&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674013</a>]</span><br /> -
|
|
Vitreous fibrillar condensation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674014&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674014</a>]</span><br /> -
|
|
Breakdown of the blood retinal barrier with retinal neovascularization <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674015&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674015</a>]</span><br /> -
|
|
Fundus dystrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674016&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674016</a>]</span><br /> -
|
|
Peripheral retinal pigment epithelium atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674017&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674017</a>]</span><br /> -
|
|
Retinal pigmentation anterior to boundary of the staphyloma in younger patients <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674018&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674018</a>]</span><br /> -
|
|
Pigmentary retinopathy throughout the posterior pole and into the staphyloma in older individuals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674019&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674019</a>]</span><br /> -
|
|
Posterior staphyloma in most eyes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674020&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674020</a>]</span><br /> -
|
|
Reduced axial length (nanophthalmos) if no staphyloma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674021&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674021</a>]</span><br /> -
|
|
Microcornea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26098002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26098002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000482</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000482</a>]</span><br /> -
|
|
Glaucoma, chronic angle-closure, in older patients <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674022&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674022</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
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|
|
|
|
|
|
|
|
|
|
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|
|
|
|
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|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Reduced electroretinogram (scotopic > photopic) becoming extinguished in older patients <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674023&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674023</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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|
|
</div>
|
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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 bestrophin 1 gene (BEST1, <a href="/entry/607854#0020">607854.0020</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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|
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</div>
|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
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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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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant vitreoretinochoroidopathy (VRCP) is caused by heterozygous mutation in the bestrophin-1 gene (BEST1; <a href="/entry/607854">607854</a>) on chromosome 11q12.</p><p>Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-2 (MRCS2), a disorder with features that overlap those of VRCP, is also caused by heterozygous mutation in the BEST1 gene. One such family has been reported. For a discussion of genetic heterogeneity of MRCS, see <a href="/entry/619082">619082</a>.</p>
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<p>Under the designation autosomal dominant vitreoretinochoroidopathy (ADVIRC), <a href="#5" class="mim-tip-reference" title="Kaufman, S. J., Goldberg, M. F., Orth, D. H., Fishman, G. A., Tessler, H., Mizuno, K. <strong>Autosomal dominant vitreoretinochoroidopathy.</strong> Arch. Ophthal. 100: 272-278, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7065944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7065944</a>] [<a href="https://doi.org/10.1001/archopht.1982.01030030274008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7065944">Kaufman et al. (1982)</a> described a seemingly 'new' fundus dystrophy characterized by chorioretinal hypopigmentation and hyperpigmentation, usually lying between the vortex veins and the ora serrata for 360 degrees. In this zone, a discrete posterior boundary, preretinal punctate white opacities, retinal arteriolar narrowing and occlusion, and, in some cases, choroidal atrophy are found. Most affected persons in the 1 kindred observed by <a href="#5" class="mim-tip-reference" title="Kaufman, S. J., Goldberg, M. F., Orth, D. H., Fishman, G. A., Tessler, H., Mizuno, K. <strong>Autosomal dominant vitreoretinochoroidopathy.</strong> Arch. Ophthal. 100: 272-278, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7065944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7065944</a>] [<a href="https://doi.org/10.1001/archopht.1982.01030030274008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7065944">Kaufman et al. (1982)</a> had diffuse retinal vascular incompetence, cystoid macular edema, and presenile cataracts. Fibrillar condensation and a moderate pleocytosis characterized the vitreous. Progression was very slow. Electroretinogram was normal in younger affected persons and only moderately abnormal in older ones. Preretinal neovascularization was progressive in the proband. No systemic or skeletal abnormalities, high myopia, optically empty vitreous lattice degeneration, areas of white-without-pressure, retinal breaks or retinal detachment were found in any to point to a previously delineated entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7065944" 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="#1" class="mim-tip-reference" title="Blair, N. P., Goldberg, M. F., Fishman, G. A., Salzano, T. <strong>Autosomal dominant vitreoretinochoroidopathy (ADVIRC).</strong> Brit. J. Ophthal. 68: 2-9, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6689931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6689931</a>] [<a href="https://doi.org/10.1136/bjo.68.1.2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6689931">Blair et al. (1984)</a> described a second family with this disorder. Affected persons in 3 generations and male-to-male transmission confirmed autosomal dominant inheritance (although the authors pointed out that the changes were minimal in the father and paternal grandmother and 'possibly could be nonspecific'). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6689931" 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="Traboulsi, E. I., Payne, J. W. <strong>Autosomal dominant vitreoretinochoroidopathy: report of the third family.</strong> Arch. Ophthal. 111: 194-196, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8431155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8431155</a>] [<a href="https://doi.org/10.1001/archopht.1993.01090020048021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8431155">Traboulsi and Payne (1993)</a> described a third family with ADVIRC in which 13 members of 5 generations were affected. Visual acuity was 20/25 or better in all but 1 patient. All affected individuals had vitreous liquefaction with or without peripheral vitreal condensations. Peripheral pigmentary changes and choroidal atrophy were characteristic. Cataracts developed in 6 patients in their early forties and required extraction. One patient had glaucoma, 1 developed a retinal detachment, and 1 had a spontaneous vitreous hemorrhage. One instance of male-to-male transmission was observed. In a 70-year-old affected member of the pedigree described by <a href="#9" class="mim-tip-reference" title="Traboulsi, E. I., Payne, J. W. <strong>Autosomal dominant vitreoretinochoroidopathy: report of the third family.</strong> Arch. Ophthal. 111: 194-196, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8431155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8431155</a>] [<a href="https://doi.org/10.1001/archopht.1993.01090020048021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8431155">Traboulsi and Payne (1993)</a>, <a href="#7" class="mim-tip-reference" title="Oh, K. T., Vallar, C. <strong>Central cone dysfunction in autosomal dominant vitreoretinochoroidopathy (ADVIRC).</strong> Am. J. Ophthal. 141: 940-943, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16678511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16678511</a>] [<a href="https://doi.org/10.1016/j.ajo.2005.11.041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16678511">Oh and Vallar (2006)</a> found evidence of central cone dysfunction. The patient had normal full-field electroretinography (ERG) but focally reduced macular multifocal ERG. Ocular coherence tomography showed thinning of the fovea and perifoveal region of both eyes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8431155+16678511" 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="#4" class="mim-tip-reference" title="Hermann, P. <strong>Le syndrome: microphtalmie-retinite pigmentaire-glaucome.</strong> Arch. Ophtal. Rev. Gen. Ophtal. 18: 17-24, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13534955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13534955</a>]" pmid="13534955">Hermann (1958)</a> reported a French family with microphthalmia in 13 members of 4 generations. Six of the affected individuals also had pigmentary retinopathy, 5 had cataract (peripheral opacities as well as sutural and posterior polar), and 4 had glaucoma. The author noted that several individuals had dyschromatopsia, and nystagmus and strabismus were also observed in this family. No extraocular abnormalities were mentioned. <a href="#3" class="mim-tip-reference" title="Francois, P., Puech, B., Hache, J. C., Laffineur, O. <strong>Heredo-dystrophie chorioretinovitreenne, microcornee, glaucome et cataracte.</strong> J. Franc. Ophtal. 16: 29-40, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8482797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8482797</a>]" pmid="8482797">Francois et al. (1993)</a> examined 28 members of the family originally described by <a href="#4" class="mim-tip-reference" title="Hermann, P. <strong>Le syndrome: microphtalmie-retinite pigmentaire-glaucome.</strong> Arch. Ophtal. Rev. Gen. Ophtal. 18: 17-24, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13534955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13534955</a>]" pmid="13534955">Hermann (1958)</a>, in which the 4 major features of microcornea, vitreoretinochoroidopathy, glaucoma, and cataract segregated in an autosomal dominant fashion. <a href="#3" class="mim-tip-reference" title="Francois, P., Puech, B., Hache, J. C., Laffineur, O. <strong>Heredo-dystrophie chorioretinovitreenne, microcornee, glaucome et cataracte.</strong> J. Franc. Ophtal. 16: 29-40, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8482797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8482797</a>]" pmid="8482797">Francois et al. (1993)</a> provided a detailed description of an affected woman, her 2 daughters, and the 2 affected children of 1 of the daughters: all 5 patients had bilateral microcornea and circumferential peripheral retinopathy involving pigmentary clumping and whitish dots, with atrophy around the optic disc extending to the macula; the 3 youngest patients had a whitish equatorial demarcation line bordering the retinopathy. The 2 oldest patients also had bilateral cataract and glaucoma, and the 65-year-old mother had bilateral microphthalmia and posterior staphyloma. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13534955+8482797" 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="#6" class="mim-tip-reference" title="Lafaut, B. A., Loeys, B., Leroy, B. P., Spileers, W., De Laey, J. J., Kestelyn, P. <strong>Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.</strong> Graefes Arch. Clin. Exp. Ophthal. 239: 575-582, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11585313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11585313</a>] [<a href="https://doi.org/10.1007/s004170100318" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11585313">Lafaut et al. (2001)</a> examined 12 affected and 4 unaffected members of a 3-generation Belgian family segregating autosomal dominant vitreoretinochoroidopathy. Characteristic annular peripheral pigmentary changes were present in all affected members, as well as chorioretinal atrophy varying from a tigroid appearance to marked atrophy. Seven patients had a fibrillary vitreous, although vitreal cells were seen in only 3 patients. Six patients developed premature cataracts. Four patients had microcornea and shallow anterior chamber without microphthalmia (although the reported axial length of the right eye of 1 of those 4 patients was 21.0 mm, and the axial lengths of 3 eyes in 2 other affected family members measured 21.2 mm, 21.9 mm, and 21.5 mm). Two patients developed acute angle-closure glaucoma at ages 64 and 45 years, and another developed subacute angle-closure glaucoma at age 35 years. Visual fields tended to constrict concentrically with age. Electrooculography was abnormal in the 10 affected family members tested and normal in 4 unaffected family members. ERG findings were variable: low-normal to normal rod and cone responses were found in 6 younger patients, whereas 3 older patients had mild to moderate reduction of cone and rod responses with near-normal latencies. Two patients, aged 37 and 61 years, had severely reduced rod and cone responses with moderately increased latencies; they were also the only patients who had extensive midperipheral and macular chorioretinal atrophy. <a href="#6" class="mim-tip-reference" title="Lafaut, B. A., Loeys, B., Leroy, B. P., Spileers, W., De Laey, J. J., Kestelyn, P. <strong>Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.</strong> Graefes Arch. Clin. Exp. Ophthal. 239: 575-582, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11585313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11585313</a>] [<a href="https://doi.org/10.1007/s004170100318" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11585313">Lafaut et al. (2001)</a> concluded that the presentation of VRCP is variable and may be associated with microcornea, shallow anterior chamber, and angle-closure glaucoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11585313" 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 an affected sister and brother from a family with genetically confirmed ADVIRC, <a href="#2" class="mim-tip-reference" title="Burgess, R., MacLaren, R. E., Davidson, A. E., Urquhart, J. E., Holder, G. E., Robson, A. G., Moore, A. T., O'Keefe, R., Black, G. C. M., Manson, F. D. C. <strong>ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. (Letter)</strong> J. Med. Genet. 46: 620-625, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18611979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18611979</a>] [<a href="https://doi.org/10.1136/jmg.2008.059881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18611979">Burgess et al. (2009)</a> described the proband with the typical phenotype involving a developmental anomaly of the anterior segment predisposing to angle closure glaucoma, early adult-onset cataract, and the typical fundus appearance of a broad post-oral circumferential band of atrophy and pigmentation. Her brother had a milder phenotype but also had the typical peripheral retinal abnormality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18611979" 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>Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma-2</em></strong></p><p>
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<a href="#8" class="mim-tip-reference" title="Reddy, M. A., Francis, P. J., Berry, V., Bradshaw, K., Patel, R. J., Maher, E. R., Kumar, R., Bhattacharya, S. S., Moore, A. T. <strong>A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.</strong> Brit. J. Ophthal. 87: 197-202, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12543751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12543751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12543751[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.87.2.197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12543751">Reddy et al. (2003)</a> described 6 patients from a 3-generation English family with a complex developmental disorder of the eye, typically involving night blindness during the second decade of life and poor vision due to cataracts before age 30 years, with cataract surgery required in the second or third decade. Older individuals had poor vision (ranging from no light perception to 20/400) while younger individuals retained good visual acuities (20/30). All individuals had small corneas, and 2 older individuals had chronic angle closure glaucoma. Younger individuals had pulverulent-like cataracts and moderate myopia; the older patients were aphakic due to previous cataract surgery. All affected members had retinal abnormalities consisting of peripheral retinal pigment epithelium atrophy and retinal pigmentation. In addition, there was evidence of a posterior staphyloma in 9 of 12 eyes; in younger individuals, there was a clear-cut demarcation line possibly related to the boundary of the staphyloma, anterior to which there was retinal pigmentation. Although clinical examination showed some features consistent with a diagnosis of nanophthalmos, patients did not have consistently reduced axial lengths: ultrasonography revealed eye sizes within the normal range except in the 3 eyes without staphyloma, which had axial lengths of 18.73 mm, 16.63 mm, and 16.44 mm. The ERG was extinguished in 2 older family members, and subnormal photopic and scotopic responses were demonstrated in a mother and her 2 children, 1 of whom had reduced scotopic responses compared to the photopic responses. No systemic disease or abnormality was identified as segregating with the retinal disease. <a href="#8" class="mim-tip-reference" title="Reddy, M. A., Francis, P. J., Berry, V., Bradshaw, K., Patel, R. J., Maher, E. R., Kumar, R., Bhattacharya, S. S., Moore, A. T. <strong>A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.</strong> Brit. J. Ophthal. 87: 197-202, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12543751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12543751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12543751[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.87.2.197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12543751">Reddy et al. (2003)</a> designated the phenotype in this family 'MRCS,' for microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12543751" 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 a 3-generation English family with microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, <a href="#8" class="mim-tip-reference" title="Reddy, M. A., Francis, P. J., Berry, V., Bradshaw, K., Patel, R. J., Maher, E. R., Kumar, R., Bhattacharya, S. S., Moore, A. T. <strong>A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.</strong> Brit. J. Ophthal. 87: 197-202, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12543751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12543751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12543751[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.87.2.197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12543751">Reddy et al. (2003)</a> performed PCR-based microsatellite marker genotyping using a positional candidate gene approach; they excluded linkage to other candidate microphthalmia loci and found suggestive linkage, with a maximum lod score of 2.01, to a region on 11q13 within the nanophthalmos-1 (NNO1; <a href="/entry/600165">600165</a>) genetic interval. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12543751" 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 the then 4-generation Belgian family with a combined vitreous and retinal phenotype, originally reported by <a href="#6" class="mim-tip-reference" title="Lafaut, B. A., Loeys, B., Leroy, B. P., Spileers, W., De Laey, J. J., Kestelyn, P. <strong>Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.</strong> Graefes Arch. Clin. Exp. Ophthal. 239: 575-582, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11585313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11585313</a>] [<a href="https://doi.org/10.1007/s004170100318" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11585313">Lafaut et al. (2001)</a>, <a href="#10" class="mim-tip-reference" title="Yardley, J., Leroy, B. P., Hart-Holden, N., Lafaut, B. A., Loeys, B., Messiaen, L. M., Perveen, R., Reddy, M. A., Bhattacharya, S. S., Traboulsi, E., Baralle, D., De Laey, J.-J., Puech, B., Kestelyn, P., Moore, A. T., Manson, F. D. C., Black, G. C. M. <strong>Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).</strong> Invest. Ophthal. Vis. Sci. 45: 3683-3689, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452077</a>] [<a href="https://doi.org/10.1167/iovs.04-0550" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452077">Yardley et al. (2004)</a> found linkage to chromosome 11, with a maximum lod score of 3.26 at markers D11S4152 and D11S4200. Haplotype analysis using microsatellite markers narrowed the critical region to a 38-cM to 73-cM interval between D11S4152 and D11S4139, overlapping the putative loci for NNO1 and the MRCS phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15452077+11585313" 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="#10" class="mim-tip-reference" title="Yardley, J., Leroy, B. P., Hart-Holden, N., Lafaut, B. A., Loeys, B., Messiaen, L. M., Perveen, R., Reddy, M. A., Bhattacharya, S. S., Traboulsi, E., Baralle, D., De Laey, J.-J., Puech, B., Kestelyn, P., Moore, A. T., Manson, F. D. C., Black, G. C. M. <strong>Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).</strong> Invest. Ophthal. Vis. Sci. 45: 3683-3689, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452077</a>] [<a href="https://doi.org/10.1167/iovs.04-0550" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452077">Yardley et al. (2004)</a> noted that both the Belgian family reported by <a href="#6" class="mim-tip-reference" title="Lafaut, B. A., Loeys, B., Leroy, B. P., Spileers, W., De Laey, J. J., Kestelyn, P. <strong>Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.</strong> Graefes Arch. Clin. Exp. Ophthal. 239: 575-582, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11585313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11585313</a>] [<a href="https://doi.org/10.1007/s004170100318" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11585313">Lafaut et al. (2001)</a> and the English family reported by <a href="#8" class="mim-tip-reference" title="Reddy, M. A., Francis, P. J., Berry, V., Bradshaw, K., Patel, R. J., Maher, E. R., Kumar, R., Bhattacharya, S. S., Moore, A. T. <strong>A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.</strong> Brit. J. Ophthal. 87: 197-202, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12543751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12543751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12543751[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.87.2.197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12543751">Reddy et al. (2003)</a> had pathologically low electrooculograms, a clinical finding also seen in vitelliform macular dystrophy (VMD; <a href="/entry/153700">153700</a>) caused by mutation in the BEST1 gene (<a href="/entry/607854">607854</a>), which lies within the critical region of linkage for both families. <a href="#10" class="mim-tip-reference" title="Yardley, J., Leroy, B. P., Hart-Holden, N., Lafaut, B. A., Loeys, B., Messiaen, L. M., Perveen, R., Reddy, M. A., Bhattacharya, S. S., Traboulsi, E., Baralle, D., De Laey, J.-J., Puech, B., Kestelyn, P., Moore, A. T., Manson, F. D. C., Black, G. C. M. <strong>Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).</strong> Invest. Ophthal. Vis. Sci. 45: 3683-3689, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452077</a>] [<a href="https://doi.org/10.1167/iovs.04-0550" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15452077">Yardley et al. (2004)</a> therefore sequenced the BEST1 gene in those 2 families and 3 others that also had autosomal dominant developmental eye abnormalities associated with retinal dystrophy, including a 6-generation French family with vitreoretinochoroidopathy, microcornea, glaucoma, and cataract originally reported by <a href="#4" class="mim-tip-reference" title="Hermann, P. <strong>Le syndrome: microphtalmie-retinite pigmentaire-glaucome.</strong> Arch. Ophtal. Rev. Gen. Ophtal. 18: 17-24, 1958.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13534955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13534955</a>]" pmid="13534955">Hermann (1958)</a>, and identified 3 different heterozygous mutations, respectively (<a href="/entry/607854#0019">607854.0019</a>-<a href="/entry/607854#0021">607854.0021</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15452077+11585313+12543751+13534955" 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 an affected sister and brother from a family with ADVIRC, <a href="#2" class="mim-tip-reference" title="Burgess, R., MacLaren, R. E., Davidson, A. E., Urquhart, J. E., Holder, G. E., Robson, A. G., Moore, A. T., O'Keefe, R., Black, G. C. M., Manson, F. D. C. <strong>ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. (Letter)</strong> J. Med. Genet. 46: 620-625, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18611979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18611979</a>] [<a href="https://doi.org/10.1136/jmg.2008.059881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18611979">Burgess et al. (2009)</a> identified heterozygosity for a missense mutation in the BEST1 gene (<a href="/entry/607854#0026">607854.0026</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18611979" 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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Blair, N. P., Goldberg, M. F., Fishman, G. A., Salzano, T.
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<strong>Autosomal dominant vitreoretinochoroidopathy (ADVIRC).</strong>
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Brit. J. Ophthal. 68: 2-9, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6689931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6689931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6689931" 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.68.1.2" target="_blank">Full Text</a>]
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Burgess, R., MacLaren, R. E., Davidson, A. E., Urquhart, J. E., Holder, G. E., Robson, A. G., Moore, A. T., O'Keefe, R., Black, G. C. M., Manson, F. D. C.
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<strong>ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. (Letter)</strong>
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J. Med. Genet. 46: 620-625, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18611979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18611979</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18611979" 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/jmg.2008.059881" target="_blank">Full Text</a>]
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Francois, P., Puech, B., Hache, J. C., Laffineur, O.
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<strong>Heredo-dystrophie chorioretinovitreenne, microcornee, glaucome et cataracte.</strong>
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J. Franc. Ophtal. 16: 29-40, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8482797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8482797</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8482797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hermann, P.
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<strong>Le syndrome: microphtalmie-retinite pigmentaire-glaucome.</strong>
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Arch. Ophtal. Rev. Gen. Ophtal. 18: 17-24, 1958.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13534955/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13534955</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13534955" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kaufman, S. J., Goldberg, M. F., Orth, D. H., Fishman, G. A., Tessler, H., Mizuno, K.
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<strong>Autosomal dominant vitreoretinochoroidopathy.</strong>
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Arch. Ophthal. 100: 272-278, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7065944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7065944</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7065944" 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.1982.01030030274008" target="_blank">Full Text</a>]
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Lafaut, B. A., Loeys, B., Leroy, B. P., Spileers, W., De Laey, J. J., Kestelyn, P.
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<strong>Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.</strong>
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Graefes Arch. Clin. Exp. Ophthal. 239: 575-582, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11585313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11585313</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11585313" 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/s004170100318" target="_blank">Full Text</a>]
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Oh, K. T., Vallar, C.
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<strong>Central cone dysfunction in autosomal dominant vitreoretinochoroidopathy (ADVIRC).</strong>
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Am. J. Ophthal. 141: 940-943, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16678511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16678511</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16678511" 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.2005.11.041" target="_blank">Full Text</a>]
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Reddy, M. A., Francis, P. J., Berry, V., Bradshaw, K., Patel, R. J., Maher, E. R., Kumar, R., Bhattacharya, S. S., Moore, A. T.
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<strong>A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.</strong>
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Brit. J. Ophthal. 87: 197-202, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12543751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12543751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12543751[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12543751" 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.87.2.197" target="_blank">Full Text</a>]
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Traboulsi, E. I., Payne, J. W.
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<strong>Autosomal dominant vitreoretinochoroidopathy: report of the third family.</strong>
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Arch. Ophthal. 111: 194-196, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8431155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8431155</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8431155" 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.1993.01090020048021" target="_blank">Full Text</a>]
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Yardley, J., Leroy, B. P., Hart-Holden, N., Lafaut, B. A., Loeys, B., Messiaen, L. M., Perveen, R., Reddy, M. A., Bhattacharya, S. S., Traboulsi, E., Baralle, D., De Laey, J.-J., Puech, B., Kestelyn, P., Moore, A. T., Manson, F. D. C., Black, G. C. M.
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<strong>Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).</strong>
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Invest. Ophthal. Vis. Sci. 45: 3683-3689, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15452077/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15452077</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15452077" 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.04-0550" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 1/28/2010
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Marla J. F. O'Neill - updated : 1/6/2009<br>Marla J. F. O'Neill - updated : 11/12/2008<br>Jane Kelly - updated : 11/12/2008<br>Jane Kelly - updated : 12/7/2006
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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carol : 11/04/2020
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alopez : 11/03/2020<br>alopez : 10/13/2016<br>carol : 05/20/2016<br>carol : 5/19/2016<br>terry : 10/12/2010<br>wwang : 2/2/2010<br>terry : 1/28/2010<br>carol : 1/6/2009<br>terry : 1/6/2009<br>terry : 12/23/2008<br>carol : 11/12/2008<br>carol : 11/12/2008<br>carol : 12/7/2006<br>terry : 12/7/2006<br>mgross : 3/18/2004<br>alopez : 6/3/1997<br>mimadm : 6/7/1995<br>carol : 3/20/1993<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988
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<strong>#</strong> 193220
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VITREORETINOCHOROIDOPATHY; VRCP
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<em>Alternative titles; symbols</em>
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VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT; ADVIRC<br />
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VITREORETINOCHOROIDOPATHY WITH MICROCORNEA, GLAUCOMA, AND CATARACT<br />
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VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS
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Other entities represented in this entry:
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<span class="h3 mim-font">
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MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 2, INCLUDED; MRCS2, INCLUDED
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<strong>SNOMEDCT:</strong> 711162004;
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<strong>ORPHA:</strong> 263347, 3086;
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<strong>DO:</strong> 0111569;
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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11q12.3
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<span class="mim-font">
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Vitreoretinochoroidopathy
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193220
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<span class="mim-font">
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Autosomal dominant
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3
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BEST1
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607854
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11q12.3
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<span class="mim-font">
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?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2
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193220
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Autosomal dominant
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<span class="mim-font">
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3
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BEST1
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<span class="mim-font">
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607854
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant vitreoretinochoroidopathy (VRCP) is caused by heterozygous mutation in the bestrophin-1 gene (BEST1; 607854) on chromosome 11q12.</p><p>Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma-2 (MRCS2), a disorder with features that overlap those of VRCP, is also caused by heterozygous mutation in the BEST1 gene. One such family has been reported. For a discussion of genetic heterogeneity of MRCS, see 619082.</p>
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<strong>Clinical Features</strong>
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<p>Under the designation autosomal dominant vitreoretinochoroidopathy (ADVIRC), Kaufman et al. (1982) described a seemingly 'new' fundus dystrophy characterized by chorioretinal hypopigmentation and hyperpigmentation, usually lying between the vortex veins and the ora serrata for 360 degrees. In this zone, a discrete posterior boundary, preretinal punctate white opacities, retinal arteriolar narrowing and occlusion, and, in some cases, choroidal atrophy are found. Most affected persons in the 1 kindred observed by Kaufman et al. (1982) had diffuse retinal vascular incompetence, cystoid macular edema, and presenile cataracts. Fibrillar condensation and a moderate pleocytosis characterized the vitreous. Progression was very slow. Electroretinogram was normal in younger affected persons and only moderately abnormal in older ones. Preretinal neovascularization was progressive in the proband. No systemic or skeletal abnormalities, high myopia, optically empty vitreous lattice degeneration, areas of white-without-pressure, retinal breaks or retinal detachment were found in any to point to a previously delineated entity. </p><p>Blair et al. (1984) described a second family with this disorder. Affected persons in 3 generations and male-to-male transmission confirmed autosomal dominant inheritance (although the authors pointed out that the changes were minimal in the father and paternal grandmother and 'possibly could be nonspecific'). </p><p>Traboulsi and Payne (1993) described a third family with ADVIRC in which 13 members of 5 generations were affected. Visual acuity was 20/25 or better in all but 1 patient. All affected individuals had vitreous liquefaction with or without peripheral vitreal condensations. Peripheral pigmentary changes and choroidal atrophy were characteristic. Cataracts developed in 6 patients in their early forties and required extraction. One patient had glaucoma, 1 developed a retinal detachment, and 1 had a spontaneous vitreous hemorrhage. One instance of male-to-male transmission was observed. In a 70-year-old affected member of the pedigree described by Traboulsi and Payne (1993), Oh and Vallar (2006) found evidence of central cone dysfunction. The patient had normal full-field electroretinography (ERG) but focally reduced macular multifocal ERG. Ocular coherence tomography showed thinning of the fovea and perifoveal region of both eyes. </p><p>Hermann (1958) reported a French family with microphthalmia in 13 members of 4 generations. Six of the affected individuals also had pigmentary retinopathy, 5 had cataract (peripheral opacities as well as sutural and posterior polar), and 4 had glaucoma. The author noted that several individuals had dyschromatopsia, and nystagmus and strabismus were also observed in this family. No extraocular abnormalities were mentioned. Francois et al. (1993) examined 28 members of the family originally described by Hermann (1958), in which the 4 major features of microcornea, vitreoretinochoroidopathy, glaucoma, and cataract segregated in an autosomal dominant fashion. Francois et al. (1993) provided a detailed description of an affected woman, her 2 daughters, and the 2 affected children of 1 of the daughters: all 5 patients had bilateral microcornea and circumferential peripheral retinopathy involving pigmentary clumping and whitish dots, with atrophy around the optic disc extending to the macula; the 3 youngest patients had a whitish equatorial demarcation line bordering the retinopathy. The 2 oldest patients also had bilateral cataract and glaucoma, and the 65-year-old mother had bilateral microphthalmia and posterior staphyloma. </p><p>Lafaut et al. (2001) examined 12 affected and 4 unaffected members of a 3-generation Belgian family segregating autosomal dominant vitreoretinochoroidopathy. Characteristic annular peripheral pigmentary changes were present in all affected members, as well as chorioretinal atrophy varying from a tigroid appearance to marked atrophy. Seven patients had a fibrillary vitreous, although vitreal cells were seen in only 3 patients. Six patients developed premature cataracts. Four patients had microcornea and shallow anterior chamber without microphthalmia (although the reported axial length of the right eye of 1 of those 4 patients was 21.0 mm, and the axial lengths of 3 eyes in 2 other affected family members measured 21.2 mm, 21.9 mm, and 21.5 mm). Two patients developed acute angle-closure glaucoma at ages 64 and 45 years, and another developed subacute angle-closure glaucoma at age 35 years. Visual fields tended to constrict concentrically with age. Electrooculography was abnormal in the 10 affected family members tested and normal in 4 unaffected family members. ERG findings were variable: low-normal to normal rod and cone responses were found in 6 younger patients, whereas 3 older patients had mild to moderate reduction of cone and rod responses with near-normal latencies. Two patients, aged 37 and 61 years, had severely reduced rod and cone responses with moderately increased latencies; they were also the only patients who had extensive midperipheral and macular chorioretinal atrophy. Lafaut et al. (2001) concluded that the presentation of VRCP is variable and may be associated with microcornea, shallow anterior chamber, and angle-closure glaucoma. </p><p>In an affected sister and brother from a family with genetically confirmed ADVIRC, Burgess et al. (2009) described the proband with the typical phenotype involving a developmental anomaly of the anterior segment predisposing to angle closure glaucoma, early adult-onset cataract, and the typical fundus appearance of a broad post-oral circumferential band of atrophy and pigmentation. Her brother had a milder phenotype but also had the typical peripheral retinal abnormality. </p><p><strong><em>Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma-2</em></strong></p><p>
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Reddy et al. (2003) described 6 patients from a 3-generation English family with a complex developmental disorder of the eye, typically involving night blindness during the second decade of life and poor vision due to cataracts before age 30 years, with cataract surgery required in the second or third decade. Older individuals had poor vision (ranging from no light perception to 20/400) while younger individuals retained good visual acuities (20/30). All individuals had small corneas, and 2 older individuals had chronic angle closure glaucoma. Younger individuals had pulverulent-like cataracts and moderate myopia; the older patients were aphakic due to previous cataract surgery. All affected members had retinal abnormalities consisting of peripheral retinal pigment epithelium atrophy and retinal pigmentation. In addition, there was evidence of a posterior staphyloma in 9 of 12 eyes; in younger individuals, there was a clear-cut demarcation line possibly related to the boundary of the staphyloma, anterior to which there was retinal pigmentation. Although clinical examination showed some features consistent with a diagnosis of nanophthalmos, patients did not have consistently reduced axial lengths: ultrasonography revealed eye sizes within the normal range except in the 3 eyes without staphyloma, which had axial lengths of 18.73 mm, 16.63 mm, and 16.44 mm. The ERG was extinguished in 2 older family members, and subnormal photopic and scotopic responses were demonstrated in a mother and her 2 children, 1 of whom had reduced scotopic responses compared to the photopic responses. No systemic disease or abnormality was identified as segregating with the retinal disease. Reddy et al. (2003) designated the phenotype in this family 'MRCS,' for microcornea, rod-cone dystrophy, cataract, and posterior staphyloma. </p>
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</span>
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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 class="mim-text-font">
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<p>In a 3-generation English family with microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, Reddy et al. (2003) performed PCR-based microsatellite marker genotyping using a positional candidate gene approach; they excluded linkage to other candidate microphthalmia loci and found suggestive linkage, with a maximum lod score of 2.01, to a region on 11q13 within the nanophthalmos-1 (NNO1; 600165) genetic interval. </p><p>In the then 4-generation Belgian family with a combined vitreous and retinal phenotype, originally reported by Lafaut et al. (2001), Yardley et al. (2004) found linkage to chromosome 11, with a maximum lod score of 3.26 at markers D11S4152 and D11S4200. Haplotype analysis using microsatellite markers narrowed the critical region to a 38-cM to 73-cM interval between D11S4152 and D11S4139, overlapping the putative loci for NNO1 and the MRCS phenotype. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>Yardley et al. (2004) noted that both the Belgian family reported by Lafaut et al. (2001) and the English family reported by Reddy et al. (2003) had pathologically low electrooculograms, a clinical finding also seen in vitelliform macular dystrophy (VMD; 153700) caused by mutation in the BEST1 gene (607854), which lies within the critical region of linkage for both families. Yardley et al. (2004) therefore sequenced the BEST1 gene in those 2 families and 3 others that also had autosomal dominant developmental eye abnormalities associated with retinal dystrophy, including a 6-generation French family with vitreoretinochoroidopathy, microcornea, glaucoma, and cataract originally reported by Hermann (1958), and identified 3 different heterozygous mutations, respectively (607854.0019-607854.0021). </p><p>In an affected sister and brother from a family with ADVIRC, Burgess et al. (2009) identified heterozygosity for a missense mutation in the BEST1 gene (607854.0026). </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
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Blair, N. P., Goldberg, M. F., Fishman, G. A., Salzano, T.
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<strong>Autosomal dominant vitreoretinochoroidopathy (ADVIRC).</strong>
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Brit. J. Ophthal. 68: 2-9, 1984.
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[PubMed: 6689931]
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[Full Text: https://doi.org/10.1136/bjo.68.1.2]
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Burgess, R., MacLaren, R. E., Davidson, A. E., Urquhart, J. E., Holder, G. E., Robson, A. G., Moore, A. T., O'Keefe, R., Black, G. C. M., Manson, F. D. C.
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<strong>ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. (Letter)</strong>
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J. Med. Genet. 46: 620-625, 2009.
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[PubMed: 18611979]
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[Full Text: https://doi.org/10.1136/jmg.2008.059881]
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<p class="mim-text-font">
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Francois, P., Puech, B., Hache, J. C., Laffineur, O.
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<strong>Heredo-dystrophie chorioretinovitreenne, microcornee, glaucome et cataracte.</strong>
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J. Franc. Ophtal. 16: 29-40, 1993.
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[PubMed: 8482797]
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<p class="mim-text-font">
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Hermann, P.
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<strong>Le syndrome: microphtalmie-retinite pigmentaire-glaucome.</strong>
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Arch. Ophtal. Rev. Gen. Ophtal. 18: 17-24, 1958.
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[PubMed: 13534955]
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<p class="mim-text-font">
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Kaufman, S. J., Goldberg, M. F., Orth, D. H., Fishman, G. A., Tessler, H., Mizuno, K.
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<strong>Autosomal dominant vitreoretinochoroidopathy.</strong>
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Arch. Ophthal. 100: 272-278, 1982.
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[PubMed: 7065944]
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[Full Text: https://doi.org/10.1001/archopht.1982.01030030274008]
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Lafaut, B. A., Loeys, B., Leroy, B. P., Spileers, W., De Laey, J. J., Kestelyn, P.
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<strong>Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.</strong>
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Graefes Arch. Clin. Exp. Ophthal. 239: 575-582, 2001.
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[PubMed: 11585313]
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[Full Text: https://doi.org/10.1007/s004170100318]
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<li>
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<p class="mim-text-font">
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Oh, K. T., Vallar, C.
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<strong>Central cone dysfunction in autosomal dominant vitreoretinochoroidopathy (ADVIRC).</strong>
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Am. J. Ophthal. 141: 940-943, 2006.
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[PubMed: 16678511]
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[Full Text: https://doi.org/10.1016/j.ajo.2005.11.041]
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Reddy, M. A., Francis, P. J., Berry, V., Bradshaw, K., Patel, R. J., Maher, E. R., Kumar, R., Bhattacharya, S. S., Moore, A. T.
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<strong>A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.</strong>
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Brit. J. Ophthal. 87: 197-202, 2003.
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[PubMed: 12543751]
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[Full Text: https://doi.org/10.1136/bjo.87.2.197]
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Traboulsi, E. I., Payne, J. W.
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<strong>Autosomal dominant vitreoretinochoroidopathy: report of the third family.</strong>
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Arch. Ophthal. 111: 194-196, 1993.
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[PubMed: 8431155]
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[Full Text: https://doi.org/10.1001/archopht.1993.01090020048021]
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Yardley, J., Leroy, B. P., Hart-Holden, N., Lafaut, B. A., Loeys, B., Messiaen, L. M., Perveen, R., Reddy, M. A., Bhattacharya, S. S., Traboulsi, E., Baralle, D., De Laey, J.-J., Puech, B., Kestelyn, P., Moore, A. T., Manson, F. D. C., Black, G. C. M.
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<strong>Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).</strong>
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Invest. Ophthal. Vis. Sci. 45: 3683-3689, 2004.
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[PubMed: 15452077]
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[Full Text: https://doi.org/10.1167/iovs.04-0550]
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Marla J. F. O'Neill - updated : 1/28/2010<br>Marla J. F. O'Neill - updated : 1/6/2009<br>Marla J. F. O'Neill - updated : 11/12/2008<br>Jane Kelly - updated : 11/12/2008<br>Jane Kelly - updated : 12/7/2006
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