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<title>
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Entry
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- #143200 - WAGNER VITREORETINOPATHY; WGVRP
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- OMIM
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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/143200"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(WAGNER VITREORETINOPATHY) OR (VCAN)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=8564&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7430" 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/wagner-syndrome" 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=143200[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="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=898" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 232064001<br />
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<strong>ORPHA:</strong> 898<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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143200
|
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</span>
|
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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WAGNER VITREORETINOPATHY; WGVRP
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</span>
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</h3>
|
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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EROSIVE VITREORETINOPATHY; ERVR<br />
|
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WAGNER VITREORETINAL DEGENERATION<br />
|
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HYALOIDEORETINAL DEGENERATION OF WAGNER<br />
|
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WAGNER SYNDROME 1; WGN1
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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<th>
|
|
Gene/Locus
|
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</th>
|
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
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</thead>
|
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<tbody>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/geneMap/5/309?start=-3&limit=10&highlight=309">
|
|
5q14.2-q14.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Wagner syndrome 1
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/entry/143200"> 143200 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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VCAN
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/118661"> 118661 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/143200" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/143200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/143200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
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</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
|
|
|
- Visual field defects (middle age) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840453</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12184005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12184005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.40</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/368.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.4</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001123" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001123</a>]</span><br /> -
|
|
Vision loss with age (middle age) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276934</a>]</span><br /> -
|
|
Myopia, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840455&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840455</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025573" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025573</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57190000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57190000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span><br /> -
|
|
Chorioretinal atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95686007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95686007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4048273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4048273</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000533" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000533</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000533" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000533</a>]</span><br /> -
|
|
Vitreoretinal degeneration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247182006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247182006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344290&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344290</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007773</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007773</a>]</span><br /> -
|
|
Cataract <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C1690964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1690964</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
|
|
Peripheral traction retinal detachment (middle age) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840456</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007643</a>]</span><br /> -
|
|
Exudative vitreoretinopathy (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4072980&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4072980</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030490</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030490</a>]</span><br /> -
|
|
'Empty' vitreous with fibrillary condensations (childhood) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840458</a>]</span><br /> -
|
|
Glaucoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23986001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23986001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H40-H42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40-H42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/365.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017601&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017601</a>, <a href="https://bioportal.bioontology.org/search?q=C0997768&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0997768</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span><br /> -
|
|
Loss of retinal pigment epithelium <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840457&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840457</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007722" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007722</a>]</span><br /> -
|
|
Optic atrophy (seen in patients older than 45 years) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span><br /> -
|
|
Impairment of dark adaptation with age <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840460&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840460</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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- Caused by mutation in the chondroitin sulfate proteoglycan-2 gene (CSPG2, <a href="/entry/118661#0001">118661.0001</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that Wagner vitreoretinopathy (WGVRP) is caused by heterozygous mutation in the gene encoding versican (VCAN; <a href="/entry/118661">118661</a>), also known as chondroitin sulfate proteoglycan-2 (CSPG2), on chromosome 5q14.</p>
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<p>Wagner vitreoretinopathy (WGVRP) is a rare vitreoretinal degeneration inherited as an autosomal dominant trait, first described in a large Swiss pedigree (<a href="#21" class="mim-tip-reference" title="Wagner, H. <strong>Ein bisher unbekanntes Erbleiden des Auges (degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich.</strong> Klin. Monatsbl. Augenheilkd. 100: 840-858, 1938."None>Wagner, 1938</a>) and subsequently identified in other families. Penetrance in Wagner syndrome is complete, and the disease manifests in childhood or adolescence with a progressive course. Affected individuals usually present with an 'empty' vitreous cavity with fibrillary condensation or avascular strands and veils. Additional features, which are variable and age-dependent, include chorioretinal atrophy with loss of the retinal pigment epithelium (RPE), lattice degeneration of the retina, complicated cataracts, mild myopia, and peripheral traction retinal detachment. Rod and cone electroretinography shows reduced b-wave amplitude and correlates with severe chorioretinal pathology. It is believed that liquefaction of vitreous initiates a degenerative cascade that results in the complex eye phenotype of Wagner syndrome (summary by <a href="#12" class="mim-tip-reference" title="Kloeckener-Gruissem, B., Bartholdi, D., Abdou, M.-T., Zimmermann, D. R., Berger, W. <strong>Identification of the genetic defect in the original Wagner syndrome family.</strong> Molec. Vis. 12: 350-355, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16636652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16636652</a>]" pmid="16636652">Kloeckener-Gruissem et al., 2006</a>). Patients with additional ocular features such as progressive nyctalopia (night blindness), visual field constriction, and chorioretinal atrophy, with loss of RPE and choriocapillaries on fluorescein angiography and rod-cone abnormalities on electroretinography, were initially believed to have a distinct clinical entity, which was designated 'erosive vitreoretinopathy' (ERVR). Extraocular abnormalities are not present in patients diagnosed with Wagner or erosive vitreoretinopathy (summary by <a href="#18" class="mim-tip-reference" title="Mukhopadhyay, A., Nikopoulos, K., Maugeri, A., de Brouwer, A. P. M., van Nouhuys, C. E., Boon, C. J. F., Perveen, R., Zegers, H. A. A., Wittebol-Post, D., van den Biesen, P. R., van der Velde-Visser, S. D., Brunner, H. G., Black, G. C. M., Hoyng, C. B., Cremers, F. P. M. <strong>Erosive vitreoretinopathy and Wagner disease are caused by intronic mutations in CSPG2/versican that result in an imbalance of splice variants.</strong> Invest. Ophthal. Vis. Sci. 47: 3565-3572, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16877430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16877430</a>] [<a href="https://doi.org/10.1167/iovs.06-0141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16877430">Mukhopadhyay et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16877430+16636652" 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="#21" class="mim-tip-reference" title="Wagner, H. <strong>Ein bisher unbekanntes Erbleiden des Auges (degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich.</strong> Klin. Monatsbl. Augenheilkd. 100: 840-858, 1938."None>Wagner (1938)</a> described 13 members of a Canton Zurich family with a peculiar lesion of the vitreous and retina. Ten additional affected members were observed by <a href="#3" class="mim-tip-reference" title="Boehringer, H. R., Dieterle, P., Landolt, E. <strong>Zur Klinik und Pathologie der degeneratio hyaloideo-retinalis hereditaria (Wagner).</strong> Ophthalmologica 139: 330-338, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13802004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13802004</a>] [<a href="https://doi.org/10.1159/000303718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13802004">Boehringer et al. (1960)</a> and 5 more by <a href="#19" class="mim-tip-reference" title="Ricci, A. <strong>Clinique et transmission hereditaire des degenerescences vitreo-retiniennes.</strong> Bull. Soc. Ophtal. Franc. 61: 618-662, 1961."None>Ricci (1961)</a>. In Holland <a href="#11" class="mim-tip-reference" title="Jansen, L. M. A. A. <strong>Degeneratio hyaloideo-retinalis hereditaria.</strong> Ophthalmologica 144: 458-464, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14041873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14041873</a>] [<a href="https://doi.org/10.1159/000304398" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14041873">Jansen (1962)</a> described 2 families with a total of 39 affected persons. In addition to typical changes in the vitreous, retinal detachment occurs in some and cataract is another complication. See hyaloideotapetoretinal degeneration of Favre (<a href="/entry/268100">268100</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13802004+14041873" 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="Graemiger, R. A., Niemeyer, G., Schneeberger, S. A., Messmer, E. P. <strong>Wagner vitreoretinal degeneration: follow-up of the original pedigree.</strong> Ophthalmology 102: 1830-1839, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9098284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9098284</a>] [<a href="https://doi.org/10.1016/s0161-6420(95)30787-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9098284">Graemiger et al. (1995)</a> examined 60 members of the Swiss kindred originally studied by <a href="#21" class="mim-tip-reference" title="Wagner, H. <strong>Ein bisher unbekanntes Erbleiden des Auges (degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich.</strong> Klin. Monatsbl. Augenheilkd. 100: 840-858, 1938."None>Wagner (1938)</a>. Twenty-eight members were found to be affected. The most consistent finding was an empty vitreous cavity with avascular strands or veils. Chorioretinal atrophy and cataract increased with age and occurred in all patients older than 45 years. Four patients had a history of a rhegmatogenous retinal detachment in 1 eye, which occurred at a median age of 20 years. Peripheral traction retinal detachments were found in 55% of eyes among patients older than 45 years. Glaucoma was present in 10 eyes (18%), 4 of which showed neovascular glaucoma. Of all patients, 63% showed elevated rod and cone thresholds on dark adaptation, and 87% showed subnormal b-wave amplitudes of the rod and cone systems on electroretinography. Thus, clinical expressivity of the disorder varied from unaffected carriers to bilateral blindness. Progression of the chorioretinal pathology was paralleled by electrophysiologic abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9098284" 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="#22" class="mim-tip-reference" title="Zech, J.-C., Morle, L., Vincent, P., Alloisio, N., Bozon, M., Gonnet, C., Milazzo, S., Grange, J.-D., Trepsat, C., Todet, J., Plauchu, H. <strong>Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14.</strong> Graefes Arch. Clin. Exp. Ophthal. 237: 387-393, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10333105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10333105</a>] [<a href="https://doi.org/10.1007/s004170050249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10333105">Zech et al. (1999)</a> examined 20 affected individuals from a large 4-generation French family with bilateral vitreoretinal degeneration without extraocular abnormalities. Peripheral avascular vitreous veils were seen in all 20 patients, 7 of whom were younger than 15 years. Chorioretinal changes included peripheral alteration of the pigmentary epithelium in 7 patients, lattice degeneration in 6, and chorioretinal atrophy involving the retinal periphery and posterior pole in 2. Rhegmatogenous retinal detachment had occurred in 3 patients, and slight tractional detachment was observed in 3. Presenile cataracts progressed by the third decade and required removal in 11 patients; surgery was bilateral in 8 patients. Refraction was performed in all 20 patients; visual acuity was usually normal in young patients, and severely reduced in older patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10333105" 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="#17" class="mim-tip-reference" title="Miyamoto, T., Inoue, H., Sakamoto, Y., Kudo, E., Naito, T., Mikawa, T., Mikawa, Y., Isashiki, Y., Osabe, D., Shinohara, S., Shiota, H., Itakura, M. <strong>Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.</strong> Invest. Ophthal. Vis. Sci. 46: 2726-2735, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16043844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16043844</a>] [<a href="https://doi.org/10.1167/iovs.05-0057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16043844">Miyamoto et al. (2005)</a> studied a large Japanese family with Wagner syndrome. Ocular phenotypes of affected members included an empty vitreous with fibrillary condensations, avascular membrane, perivascular sheathing, and progressive chorioretinal dystrophy and were similar to those of the original Wagner syndrome family. All affected eyes examined exhibited pseudoexotropia with ectopic fovea. No systemic manifestations were observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16043844" 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>Wagner syndrome is often confused with Stickler syndrome (STL1; <a href="/entry/108300">108300</a>) which is caused by mutations in the type II collagen gene (COL2A1; <a href="/entry/120140">120140</a>). Like certain mutations in COL2A1 that result in a predominantly ocular or ocular-only phenotype, Wagner syndrome has no systemic features (<a href="#20" class="mim-tip-reference" title="Richards, A. J., Laidlaw, M., Whittaker, J., Treacy, B., Rai, H., Bearcroft, P., Baguley, D. M., Poulson, A., Ang, A., Scott, J. D., Snead, M. P. <strong>High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.</strong> Hum. Mutat. 27: 696-704, 2006. Note: Erratum: Hum. Mutat. 27: 1156 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752401</a>] [<a href="https://doi.org/10.1002/humu.20347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752401">Richards et al., 2006</a>). However, the vitreoretinal phenotype is different, as neither of the recognized vitreous abnormalities in Stickler syndrome are present in Wagner syndrome and there is a lower incidence of retinal detachment. In addition, patients with Wagner syndrome have poor dark adaptation, which results in night blindness; this can be demonstrated by electrodiagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16752401" 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="Brezin, A. P., Nedelec, B., Barjol, A., Rothschild, P.-R., Delpech, M., Valleix, S. <strong>A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.</strong> Molec. Vis. 17: 1669-1678, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21738396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21738396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21738396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="21738396">Brezin et al. (2011)</a> studied a 4-generation French family with a severe vitreoretinal disorder in which affected individuals exhibited a range of highly variable phenotypes, from exudative vascular abnormalities and diffuse retinal atrophy with pigment clumping to nasally deviated retinal vessels with ectopic foveas. Affected family members manifested retinal detachment at an early age, with variable anterior segment features, including moderate myopia, glaucoma, cataracts, and ectopia lentis. <a href="#4" class="mim-tip-reference" title="Brezin, A. P., Nedelec, B., Barjol, A., Rothschild, P.-R., Delpech, M., Valleix, S. <strong>A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.</strong> Molec. Vis. 17: 1669-1678, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21738396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21738396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21738396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="21738396">Brezin et al. (2011)</a> noted that visual impairment in this pedigree was highly significant; among 10 affected family members, 3 were totally blind and 5 other patients had completely lost vision in 1 eye. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21738396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of WGVRP in the family reported by <a href="#17" class="mim-tip-reference" title="Miyamoto, T., Inoue, H., Sakamoto, Y., Kudo, E., Naito, T., Mikawa, T., Mikawa, Y., Isashiki, Y., Osabe, D., Shinohara, S., Shiota, H., Itakura, M. <strong>Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.</strong> Invest. Ophthal. Vis. Sci. 46: 2726-2735, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16043844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16043844</a>] [<a href="https://doi.org/10.1167/iovs.05-0057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16043844">Miyamoto et al. (2005)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16043844" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Brown, D. M., Kimura, A. E., Weingeist, T. A., Stone, E. M. <strong>Erosive vitreoretinopathy: a new clinical entity.</strong> Ophthalmology 101: 694-704, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8152765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8152765</a>] [<a href="https://doi.org/10.1016/s0161-6420(94)31276-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8152765">Brown et al. (1994)</a> concluded that erosive vitreoretinopathy (ERVR) is very similar to Wagner disease. <a href="#5" class="mim-tip-reference" title="Brown, D. M., Graemiger, R. A., Hergersberg, M., Schinzel, A., Messmer, E. P., Niemeyer, G., Schneeberger, S. A., Streb, L. M., Taylor, C. M., Kimura, A. E., Weingeist, T. A., Sheffield, V. C., Stone, E. M. <strong>Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14.</strong> Arch. Ophthal. 113: 671-675, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7748141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7748141</a>] [<a href="https://doi.org/10.1001/archopht.1995.01100050139045" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7748141">Brown et al. (1995)</a> presented linkage evidence that erosive vitreoretinopathy and Wagner disease are allelic disorders, which are distinct from COL2A1-associated Stickler syndrome. <a href="#5" class="mim-tip-reference" title="Brown, D. M., Graemiger, R. A., Hergersberg, M., Schinzel, A., Messmer, E. P., Niemeyer, G., Schneeberger, S. A., Streb, L. M., Taylor, C. M., Kimura, A. E., Weingeist, T. A., Sheffield, V. C., Stone, E. M. <strong>Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14.</strong> Arch. Ophthal. 113: 671-675, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7748141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7748141</a>] [<a href="https://doi.org/10.1001/archopht.1995.01100050139045" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7748141">Brown et al. (1995)</a> demonstrated that ERVR and Wagner disease map to 5q13-q14. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7748141+8152765" 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="Black, G. C. M., Perveen, R., Wiszniewski, W., Dodd, C. L., Donnai, D., McLeod, D. <strong>A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14.</strong> Ophthalmology 106: 2074-2081, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10571340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10571340</a>] [<a href="https://doi.org/10.1016/S0161-6420(99)90486-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10571340">Black et al. (1999)</a> reported a family in which multiple members through at least 4 generations suffered from a hereditary vitreoretinopathy associated with a variety of ocular developmental abnormalities, including posterior embryotoxon, congenital glaucoma, iris hypoplasia, congenital cataract, ectopia lentis, microphthalmia, and persistent hyperplastic primary vitreous. Genetic linkage studies mapped the disorder to markers from the proximal region of 5q13-q14, specifically to the 5-cM region between markers D5S626 and D5S2103. Both Wagner and erosive vitreoretinopathies had been mapped to the same region, suggesting that the condition in the family studied by <a href="#1" class="mim-tip-reference" title="Black, G. C. M., Perveen, R., Wiszniewski, W., Dodd, C. L., Donnai, D., McLeod, D. <strong>A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14.</strong> Ophthalmology 106: 2074-2081, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10571340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10571340</a>] [<a href="https://doi.org/10.1016/S0161-6420(99)90486-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10571340">Black et al. (1999)</a> is allelic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10571340" 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 a large 4-generation French family with ERVR, <a href="#22" class="mim-tip-reference" title="Zech, J.-C., Morle, L., Vincent, P., Alloisio, N., Bozon, M., Gonnet, C., Milazzo, S., Grange, J.-D., Trepsat, C., Todet, J., Plauchu, H. <strong>Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14.</strong> Graefes Arch. Clin. Exp. Ophthal. 237: 387-393, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10333105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10333105</a>] [<a href="https://doi.org/10.1007/s004170050249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10333105">Zech et al. (1999)</a> obtained a maximum 2-point lod score of 5.6 (theta = 0) at marker CRTL1 (HAPLN1; <a href="/entry/115435">115435</a>) GT repeat and a maximum multipoint lod score of 5.8 (theta = 0) for markers D5S2029, CRTL1 GT repeat, and D5S459. Recombination events narrowed the disease locus to a 20-cM region between D5S650 and D5S618. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10333105" 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>Using 13 microsatellite markers, <a href="#18" class="mim-tip-reference" title="Mukhopadhyay, A., Nikopoulos, K., Maugeri, A., de Brouwer, A. P. M., van Nouhuys, C. E., Boon, C. J. F., Perveen, R., Zegers, H. A. A., Wittebol-Post, D., van den Biesen, P. R., van der Velde-Visser, S. D., Brunner, H. G., Black, G. C. M., Hoyng, C. B., Cremers, F. P. M. <strong>Erosive vitreoretinopathy and Wagner disease are caused by intronic mutations in CSPG2/versican that result in an imbalance of splice variants.</strong> Invest. Ophthal. Vis. Sci. 47: 3565-3572, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16877430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16877430</a>] [<a href="https://doi.org/10.1167/iovs.06-0141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16877430">Mukhopadhyay et al. (2006)</a> determined the 5q14.3 haplotypes in affected individuals from 6 Dutch families with vitreoretinopathy. All patients from 5 of the families, including 4 families diagnosed with Wagner syndrome and 1 diagnosed with ERVR, showed the same haplotype for an 850-kb critical region between D5S626 and D5S107, suggesting a founder allele in the Netherlands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16877430" 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 a 4-generation French family with a severe vitreoretinal disorder, <a href="#4" class="mim-tip-reference" title="Brezin, A. P., Nedelec, B., Barjol, A., Rothschild, P.-R., Delpech, M., Valleix, S. <strong>A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.</strong> Molec. Vis. 17: 1669-1678, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21738396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21738396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21738396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="21738396">Brezin et al. (2011)</a> found significant evidence for linkage with markers D5S641 (Z = 3.36; theta = 0) and D5S2103 (Z = 2.89; theta = 0), indicating a critical disease interval for the WGN1 locus on 5q13-q14. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21738396" 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 large Japanese family with vitreoretinopathy that segregated with the previously identified WGN1 locus on 5q13-q14, <a href="#17" class="mim-tip-reference" title="Miyamoto, T., Inoue, H., Sakamoto, Y., Kudo, E., Naito, T., Mikawa, T., Mikawa, Y., Isashiki, Y., Osabe, D., Shinohara, S., Shiota, H., Itakura, M. <strong>Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.</strong> Invest. Ophthal. Vis. Sci. 46: 2726-2735, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16043844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16043844</a>] [<a href="https://doi.org/10.1167/iovs.05-0057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16043844">Miyamoto et al. (2005)</a> identified a heterozygous splice site mutation in intron 7 of the CSPG2 gene (VCAN; <a href="/entry/118661#0001">118661.0001</a>) that cosegregated with the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16043844" 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 large 5-generation Swiss family with vitreoretinopathy originally described by <a href="#21" class="mim-tip-reference" title="Wagner, H. <strong>Ein bisher unbekanntes Erbleiden des Auges (degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich.</strong> Klin. Monatsbl. Augenheilkd. 100: 840-858, 1938."None>Wagner (1938)</a>, <a href="#12" class="mim-tip-reference" title="Kloeckener-Gruissem, B., Bartholdi, D., Abdou, M.-T., Zimmermann, D. R., Berger, W. <strong>Identification of the genetic defect in the original Wagner syndrome family.</strong> Molec. Vis. 12: 350-355, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16636652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16636652</a>]" pmid="16636652">Kloeckener-Gruissem et al. (2006)</a> analyzed 2 positional candidate genes on chromosome 5q13-q14 and identified a heterozygous splice site mutation in intron 8 of the VCAN gene (<a href="/entry/118661#0002">118661.0002</a>) that segregated with disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16636652" 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="#18" class="mim-tip-reference" title="Mukhopadhyay, A., Nikopoulos, K., Maugeri, A., de Brouwer, A. P. M., van Nouhuys, C. E., Boon, C. J. F., Perveen, R., Zegers, H. A. A., Wittebol-Post, D., van den Biesen, P. R., van der Velde-Visser, S. D., Brunner, H. G., Black, G. C. M., Hoyng, C. B., Cremers, F. P. M. <strong>Erosive vitreoretinopathy and Wagner disease are caused by intronic mutations in CSPG2/versican that result in an imbalance of splice variants.</strong> Invest. Ophthal. Vis. Sci. 47: 3565-3572, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16877430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16877430</a>] [<a href="https://doi.org/10.1167/iovs.06-0141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16877430">Mukhopadhyay et al. (2006)</a> studied 8 multigenerational families diagnosed with vitreoretinopathy, 7 of which were of Dutch origin. All affected members of the Dutch families were heterozygous for 1 of 3 splice site mutations in intron 7 of the VCAN gene (<a href="/entry/118661#0003">118661.0003</a>-<a href="/entry/118661#0005">118661.0005</a>), including a family diagnosed with erosive vitreoretinopathy. However, no causal variant was identified in the eighth family, which was of Chinese origin. Affected ancestors of 5 of the Dutch families, which shared a common founder haplotype on chromosome 5q14.3, were traced to the same geographic region of the Netherlands; <a href="#18" class="mim-tip-reference" title="Mukhopadhyay, A., Nikopoulos, K., Maugeri, A., de Brouwer, A. P. M., van Nouhuys, C. E., Boon, C. J. F., Perveen, R., Zegers, H. A. A., Wittebol-Post, D., van den Biesen, P. R., van der Velde-Visser, S. D., Brunner, H. G., Black, G. C. M., Hoyng, C. B., Cremers, F. P. M. <strong>Erosive vitreoretinopathy and Wagner disease are caused by intronic mutations in CSPG2/versican that result in an imbalance of splice variants.</strong> Invest. Ophthal. Vis. Sci. 47: 3565-3572, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16877430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16877430</a>] [<a href="https://doi.org/10.1167/iovs.06-0141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16877430">Mukhopadhyay et al. (2006)</a> stated that these 5 families harbored more than 90% of all Dutch patients with Wagner vitreoretinopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16877430" 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 a 4-generation French family with a severe vitreoretinal disorder mapping to 5q13-q14, in which some patients exhibited exudative vascular features (see EVR1, <a href="/entry/133780">133780</a>) but in whom no mutations were found in EVR-associated genes, <a href="#4" class="mim-tip-reference" title="Brezin, A. P., Nedelec, B., Barjol, A., Rothschild, P.-R., Delpech, M., Valleix, S. <strong>A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.</strong> Molec. Vis. 17: 1669-1678, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21738396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21738396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21738396[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="21738396">Brezin et al. (2011)</a> identified a heterozygous splice site mutation in intron 7 of the VCAN gene (<a href="/entry/118661#0006">118661.0006</a>) that segregated with disease and was not found in 100 French controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21738396" 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="#13" class="mim-tip-reference" title="Kloeckener-Gruissem, B., Neidhardt, J., Magyar, I., Plauchu, H., Zech, J.-C., Morle, L., Palmer-Smith, S. M., MacDonald, M. J., Nas, V., Fry, A. E., Berger, W. <strong>Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.</strong> Europ. J. Hum. Genet. 21: 352-356, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22739342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22739342</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22739342[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/10.1038/ejhg.2012.137" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22739342">Kloeckener-Gruissem et al. (2013)</a> sequenced the VCAN gene in the British family with Wagner vitreoretinopathy previously studied by <a href="#8" class="mim-tip-reference" title="Fryer, A. E., Upadhyaya, M., Littler, M., Bacon, P., Watkins, D., Tsipouras, P., Harper, P. S. <strong>Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.</strong> J. Med. Genet. 27: 91-93, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2319589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2319589</a>] [<a href="https://doi.org/10.1136/jmg.27.2.91" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2319589">Fryer et al. (1990)</a> and in the French family previously described by <a href="#22" class="mim-tip-reference" title="Zech, J.-C., Morle, L., Vincent, P., Alloisio, N., Bozon, M., Gonnet, C., Milazzo, S., Grange, J.-D., Trepsat, C., Todet, J., Plauchu, H. <strong>Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14.</strong> Graefes Arch. Clin. Exp. Ophthal. 237: 387-393, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10333105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10333105</a>] [<a href="https://doi.org/10.1007/s004170050249" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10333105">Zech et al. (1999)</a>, and identified 2 heterozygous splice site mutations, in introns 8 and 7 of the VCAN gene, respectively, that segregated with disease in each family (<a href="/entry/118661#0007">118661.0007</a> and <a href="/entry/118661#0008">118661.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2319589+10333105+22739342" 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>Exclusion Studies</em></strong></p><p>
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<a href="#8" class="mim-tip-reference" title="Fryer, A. E., Upadhyaya, M., Littler, M., Bacon, P., Watkins, D., Tsipouras, P., Harper, P. S. <strong>Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.</strong> J. Med. Genet. 27: 91-93, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2319589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2319589</a>] [<a href="https://doi.org/10.1136/jmg.27.2.91" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2319589">Fryer et al. (1990)</a> studied a large British family with Wagner vitreoretinal degeneration but none of the nonocular features of Stickler syndrome. They demonstrated recombination with the COL2A1 locus (<a href="/entry/120140">120140</a>), thus excluding that gene as the site of the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2319589" 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>Differentiation of the Wagner syndrome and the Stickler syndrome is difficult. Liberfarb et al. (<a href="#15" class="mim-tip-reference" title="Liberfarb, R. M., Hirose, T., Holmes, L. B. <strong>Wagner-Stickler syndrome: a genetic study. (Abstract)</strong> Pediat. Res. 12: 452 only, 1978."None>1978</a>, <a href="#16" class="mim-tip-reference" title="Liberfarb, R. M., Hirose, T., Holmes, L. B. <strong>The Wagner-Stickler syndrome: a study of 22 families.</strong> J. Pediat. 99: 394-399, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7264793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7264793</a>] [<a href="https://doi.org/10.1016/s0022-3476(81)80324-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7264793">1981</a>) suggested that the syndromes of Wagner and Stickler are the same. They restudied 3 families reported by <a href="#10" class="mim-tip-reference" title="Hirose, T., Lee, K. Y., Schepens, C. L. <strong>Wagner's hereditary vitreoretinal degeneration and retinal detachment.</strong> Arch. Ophthal. 89: 176-185, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4691317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4691317</a>] [<a href="https://doi.org/10.1001/archopht.1973.01000040178003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4691317">Hirose et al. (1973)</a>. <a href="#2" class="mim-tip-reference" title="Blair, N. P., Albert, D. M., Liberfarb, R. M., Hirose, T. <strong>Hereditary progressive arthro-ophthalmopathy of Stickler.</strong> Am. J. Ophthal. 88: 876-888, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/507166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">507166</a>] [<a href="https://doi.org/10.1016/0002-9394(79)90566-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="507166">Blair et al. (1979)</a> reported the clinical and histopathologic findings in 3 severely diseased eyes from 3 patients in 2 families. They concluded that the Stickler and Wagner syndromes are the same disorder. One reason for hesitation in complete acceptance of identity of the Wagner and Stickler syndromes is the fact that retinal detachment was not noted in any of the 28 members of the original Swiss family studied by <a href="#21" class="mim-tip-reference" title="Wagner, H. <strong>Ein bisher unbekanntes Erbleiden des Auges (degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich.</strong> Klin. Monatsbl. Augenheilkd. 100: 840-858, 1938."None>Wagner (1938)</a> and later by <a href="#3" class="mim-tip-reference" title="Boehringer, H. R., Dieterle, P., Landolt, E. <strong>Zur Klinik und Pathologie der degeneratio hyaloideo-retinalis hereditaria (Wagner).</strong> Ophthalmologica 139: 330-338, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13802004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13802004</a>] [<a href="https://doi.org/10.1159/000303718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13802004">Boehringer et al. (1960)</a> and <a href="#19" class="mim-tip-reference" title="Ricci, A. <strong>Clinique et transmission hereditaire des degenerescences vitreo-retiniennes.</strong> Bull. Soc. Ophtal. Franc. 61: 618-662, 1961."None>Ricci (1961)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13802004+7264793+4691317+507166" 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="#14" class="mim-tip-reference" title="Korkko, J., Ritvaniemi, P., Haataja, L., Kaariainen, H., Kivirikko, K. I., Prockop, D. J., Ala-Kokko, L. <strong>Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha-I-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).</strong> Am. J. Hum. Genet. 53: 55-61, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8317498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8317498</a>]" pmid="8317498">Korkko et al. (1993)</a> noted phenotypic similarity to the family described by <a href="#21" class="mim-tip-reference" title="Wagner, H. <strong>Ein bisher unbekanntes Erbleiden des Auges (degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich.</strong> Klin. Monatsbl. Augenheilkd. 100: 840-858, 1938."None>Wagner (1938)</a> in a family in which they found a COL2A1 mutation (<a href="/entry/120140#0014">120140.0014</a>). The family had early-onset cataracts, lattice degeneration of the retina, and retinal detachment with no involvement of nonocular tissues. <a href="#17" class="mim-tip-reference" title="Miyamoto, T., Inoue, H., Sakamoto, Y., Kudo, E., Naito, T., Mikawa, T., Mikawa, Y., Isashiki, Y., Osabe, D., Shinohara, S., Shiota, H., Itakura, M. <strong>Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.</strong> Invest. Ophthal. Vis. Sci. 46: 2726-2735, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16043844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16043844</a>] [<a href="https://doi.org/10.1167/iovs.05-0057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16043844">Miyamoto et al. (2005)</a> classified the family of <a href="#14" class="mim-tip-reference" title="Korkko, J., Ritvaniemi, P., Haataja, L., Kaariainen, H., Kivirikko, K. I., Prockop, D. J., Ala-Kokko, L. <strong>Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha-I-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).</strong> Am. J. Hum. Genet. 53: 55-61, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8317498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8317498</a>]" pmid="8317498">Korkko et al. (1993)</a> as an example of Stickler syndrome. <a href="#20" class="mim-tip-reference" title="Richards, A. J., Laidlaw, M., Whittaker, J., Treacy, B., Rai, H., Bearcroft, P., Baguley, D. M., Poulson, A., Ang, A., Scott, J. D., Snead, M. P. <strong>High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.</strong> Hum. Mutat. 27: 696-704, 2006. Note: Erratum: Hum. Mutat. 27: 1156 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752401</a>] [<a href="https://doi.org/10.1002/humu.20347" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16752401">Richards et al. (2006)</a> suggested that the family of <a href="#14" class="mim-tip-reference" title="Korkko, J., Ritvaniemi, P., Haataja, L., Kaariainen, H., Kivirikko, K. I., Prockop, D. J., Ala-Kokko, L. <strong>Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha-I-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).</strong> Am. J. Hum. Genet. 53: 55-61, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8317498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8317498</a>]" pmid="8317498">Korkko et al. (1993)</a> could be an example of predominantly ocular Stickler syndrome or dominantly inherited rhegmatogenous retinal detachment. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16752401+16043844+8317498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Bundey1974" class="mim-tip-reference" title="Bundey, S. E., Leffler, A. T. <strong>Retinal degeneration and midline submucous cleft of the palate (Wagner-Cervenka syndrome).</strong> Birth Defects Orig. Art. Ser. X(4): 342-343, 1974.">Bundey and Leffler (1974)</a>
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Black, G. C. M., Perveen, R., Wiszniewski, W., Dodd, C. L., Donnai, D., McLeod, D.
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<strong>A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14.</strong>
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Ophthalmology 106: 2074-2081, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10571340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10571340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10571340" 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/S0161-6420(99)90486-4" target="_blank">Full Text</a>]
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Blair, N. P., Albert, D. M., Liberfarb, R. M., Hirose, T.
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<strong>Hereditary progressive arthro-ophthalmopathy of Stickler.</strong>
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Am. J. Ophthal. 88: 876-888, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/507166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">507166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=507166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0002-9394(79)90566-x" target="_blank">Full Text</a>]
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Boehringer, H. R., Dieterle, P., Landolt, E.
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<strong>Zur Klinik und Pathologie der degeneratio hyaloideo-retinalis hereditaria (Wagner).</strong>
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Ophthalmologica 139: 330-338, 1960.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13802004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13802004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13802004" 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/10.1159/000303718" target="_blank">Full Text</a>]
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Brezin, A. P., Nedelec, B., Barjol, A., Rothschild, P.-R., Delpech, M., Valleix, S.
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<strong>A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.</strong>
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Molec. Vis. 17: 1669-1678, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21738396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21738396</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21738396[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=21738396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Brown, D. M., Graemiger, R. A., Hergersberg, M., Schinzel, A., Messmer, E. P., Niemeyer, G., Schneeberger, S. A., Streb, L. M., Taylor, C. M., Kimura, A. E., Weingeist, T. A., Sheffield, V. C., Stone, E. M.
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<strong>Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14.</strong>
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Arch. Ophthal. 113: 671-675, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7748141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7748141</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7748141" 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.1995.01100050139045" target="_blank">Full Text</a>]
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Brown, D. M., Kimura, A. E., Weingeist, T. A., Stone, E. M.
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<strong>Erosive vitreoretinopathy: a new clinical entity.</strong>
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Ophthalmology 101: 694-704, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8152765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8152765</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8152765" 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/s0161-6420(94)31276-0" target="_blank">Full Text</a>]
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Bundey, S. E., Leffler, A. T.
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<strong>Retinal degeneration and midline submucous cleft of the palate (Wagner-Cervenka syndrome).</strong>
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Birth Defects Orig. Art. Ser. X(4): 342-343, 1974.
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Fryer, A. E., Upadhyaya, M., Littler, M., Bacon, P., Watkins, D., Tsipouras, P., Harper, P. S.
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<strong>Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.</strong>
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J. Med. Genet. 27: 91-93, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2319589/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2319589</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2319589" 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.27.2.91" target="_blank">Full Text</a>]
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Graemiger, R. A., Niemeyer, G., Schneeberger, S. A., Messmer, E. P.
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<strong>Wagner vitreoretinal degeneration: follow-up of the original pedigree.</strong>
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Ophthalmology 102: 1830-1839, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9098284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9098284</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9098284" 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/s0161-6420(95)30787-7" target="_blank">Full Text</a>]
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Hirose, T., Lee, K. Y., Schepens, C. L.
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<strong>Wagner's hereditary vitreoretinal degeneration and retinal detachment.</strong>
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Arch. Ophthal. 89: 176-185, 1973.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4691317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4691317</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4691317" 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.1973.01000040178003" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Jansen1962" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Jansen, L. M. A. A.
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<strong>Degeneratio hyaloideo-retinalis hereditaria.</strong>
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Ophthalmologica 144: 458-464, 1962.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14041873/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14041873</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14041873" 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/10.1159/000304398" target="_blank">Full Text</a>]
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<a id="Kloeckener-Gruissem2006" class="mim-anchor"></a>
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<p class="mim-text-font">
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Kloeckener-Gruissem, B., Bartholdi, D., Abdou, M.-T., Zimmermann, D. R., Berger, W.
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<strong>Identification of the genetic defect in the original Wagner syndrome family.</strong>
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Molec. Vis. 12: 350-355, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16636652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16636652</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16636652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Kloeckener-Gruissem2013" class="mim-anchor"></a>
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Kloeckener-Gruissem, B., Neidhardt, J., Magyar, I., Plauchu, H., Zech, J.-C., Morle, L., Palmer-Smith, S. M., MacDonald, M. J., Nas, V., Fry, A. E., Berger, W.
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<strong>Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.</strong>
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Europ. J. Hum. Genet. 21: 352-356, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22739342/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22739342</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22739342[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=22739342" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2012.137" target="_blank">Full Text</a>]
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<a id="Korkko1993" class="mim-anchor"></a>
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Korkko, J., Ritvaniemi, P., Haataja, L., Kaariainen, H., Kivirikko, K. I., Prockop, D. J., Ala-Kokko, L.
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<strong>Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha-I-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).</strong>
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Am. J. Hum. Genet. 53: 55-61, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8317498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8317498</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8317498" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Liberfarb, R. M., Hirose, T., Holmes, L. B.
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<strong>Wagner-Stickler syndrome: a genetic study. (Abstract)</strong>
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Pediat. Res. 12: 452 only, 1978.
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<a id="Liberfarb1981" class="mim-anchor"></a>
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Liberfarb, R. M., Hirose, T., Holmes, L. B.
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<strong>The Wagner-Stickler syndrome: a study of 22 families.</strong>
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J. Pediat. 99: 394-399, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7264793/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7264793</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7264793" 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/s0022-3476(81)80324-1" target="_blank">Full Text</a>]
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<a id="Miyamoto2005" class="mim-anchor"></a>
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Miyamoto, T., Inoue, H., Sakamoto, Y., Kudo, E., Naito, T., Mikawa, T., Mikawa, Y., Isashiki, Y., Osabe, D., Shinohara, S., Shiota, H., Itakura, M.
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<strong>Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.</strong>
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Invest. Ophthal. Vis. Sci. 46: 2726-2735, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16043844/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16043844</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16043844" 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.05-0057" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Mukhopadhyay2006" class="mim-anchor"></a>
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Mukhopadhyay, A., Nikopoulos, K., Maugeri, A., de Brouwer, A. P. M., van Nouhuys, C. E., Boon, C. J. F., Perveen, R., Zegers, H. A. A., Wittebol-Post, D., van den Biesen, P. R., van der Velde-Visser, S. D., Brunner, H. G., Black, G. C. M., Hoyng, C. B., Cremers, F. P. M.
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<strong>Erosive vitreoretinopathy and Wagner disease are caused by intronic mutations in CSPG2/versican that result in an imbalance of splice variants.</strong>
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Invest. Ophthal. Vis. Sci. 47: 3565-3572, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16877430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16877430</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16877430" 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.06-0141" target="_blank">Full Text</a>]
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<a id="Ricci1961" class="mim-anchor"></a>
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Ricci, A.
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<strong>Clinique et transmission hereditaire des degenerescences vitreo-retiniennes.</strong>
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Bull. Soc. Ophtal. Franc. 61: 618-662, 1961.
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Richards, A. J., Laidlaw, M., Whittaker, J., Treacy, B., Rai, H., Bearcroft, P., Baguley, D. M., Poulson, A., Ang, A., Scott, J. D., Snead, M. P.
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<strong>High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.</strong>
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Hum. Mutat. 27: 696-704, 2006. Note: Erratum: Hum. Mutat. 27: 1156 only, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16752401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16752401</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16752401" 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/10.1002/humu.20347" target="_blank">Full Text</a>]
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<a id="Wagner1938" class="mim-anchor"></a>
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<div class="">
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Wagner, H.
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<strong>Ein bisher unbekanntes Erbleiden des Auges (degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich.</strong>
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Klin. Monatsbl. Augenheilkd. 100: 840-858, 1938.
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<a id="Zech1999" class="mim-anchor"></a>
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Zech, J.-C., Morle, L., Vincent, P., Alloisio, N., Bozon, M., Gonnet, C., Milazzo, S., Grange, J.-D., Trepsat, C., Todet, J., Plauchu, H.
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<strong>Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14.</strong>
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Graefes Arch. Clin. Exp. Ophthal. 237: 387-393, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10333105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10333105</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10333105" 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/s004170050249" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 4/8/2013
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Victor A. McKusick - updated : 9/29/2006<br>Victor A. McKusick - updated : 1/31/2000
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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alopez : 12/07/2023
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carol : 05/10/2017<br>carol : 03/31/2014<br>carol : 4/8/2013<br>terry : 11/16/2010<br>carol : 7/16/2010<br>carol : 9/12/2007<br>carol : 12/15/2006<br>ckniffin : 12/14/2006<br>alopez : 10/18/2006<br>alopez : 10/16/2006<br>alopez : 10/16/2006<br>alopez : 10/16/2006<br>terry : 9/29/2006<br>mgross : 3/17/2004<br>mcapotos : 2/8/2000<br>mcapotos : 2/4/2000<br>terry : 1/31/2000<br>carol : 4/20/1998<br>terry : 4/20/1998<br>mark : 7/16/1997<br>jamie : 10/23/1996<br>jamie : 10/16/1996<br>carol : 8/23/1996<br>marlene : 8/2/1996<br>terry : 7/25/1996<br>mimadm : 9/24/1994<br>davew : 7/28/1994<br>carol : 5/10/1994<br>terry : 5/9/1994<br>carol : 7/13/1993<br>supermim : 3/16/1992
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<strong>#</strong> 143200
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WAGNER VITREORETINOPATHY; WGVRP
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<em>Alternative titles; symbols</em>
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EROSIVE VITREORETINOPATHY; ERVR<br />
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WAGNER VITREORETINAL DEGENERATION<br />
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HYALOIDEORETINAL DEGENERATION OF WAGNER<br />
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WAGNER SYNDROME 1; WGN1
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<strong>SNOMEDCT:</strong> 232064001;
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<strong>ORPHA:</strong> 898;
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</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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5q14.2-q14.3
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</span>
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</td>
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<td>
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<span class="mim-font">
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Wagner syndrome 1
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</span>
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</td>
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<td>
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<span class="mim-font">
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143200
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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VCAN
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</span>
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</td>
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<td>
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<span class="mim-font">
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118661
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Wagner vitreoretinopathy (WGVRP) is caused by heterozygous mutation in the gene encoding versican (VCAN; 118661), also known as chondroitin sulfate proteoglycan-2 (CSPG2), on chromosome 5q14.</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>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wagner vitreoretinopathy (WGVRP) is a rare vitreoretinal degeneration inherited as an autosomal dominant trait, first described in a large Swiss pedigree (Wagner, 1938) and subsequently identified in other families. Penetrance in Wagner syndrome is complete, and the disease manifests in childhood or adolescence with a progressive course. Affected individuals usually present with an 'empty' vitreous cavity with fibrillary condensation or avascular strands and veils. Additional features, which are variable and age-dependent, include chorioretinal atrophy with loss of the retinal pigment epithelium (RPE), lattice degeneration of the retina, complicated cataracts, mild myopia, and peripheral traction retinal detachment. Rod and cone electroretinography shows reduced b-wave amplitude and correlates with severe chorioretinal pathology. It is believed that liquefaction of vitreous initiates a degenerative cascade that results in the complex eye phenotype of Wagner syndrome (summary by Kloeckener-Gruissem et al., 2006). Patients with additional ocular features such as progressive nyctalopia (night blindness), visual field constriction, and chorioretinal atrophy, with loss of RPE and choriocapillaries on fluorescein angiography and rod-cone abnormalities on electroretinography, were initially believed to have a distinct clinical entity, which was designated 'erosive vitreoretinopathy' (ERVR). Extraocular abnormalities are not present in patients diagnosed with Wagner or erosive vitreoretinopathy (summary by Mukhopadhyay et al., 2006). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wagner (1938) described 13 members of a Canton Zurich family with a peculiar lesion of the vitreous and retina. Ten additional affected members were observed by Boehringer et al. (1960) and 5 more by Ricci (1961). In Holland Jansen (1962) described 2 families with a total of 39 affected persons. In addition to typical changes in the vitreous, retinal detachment occurs in some and cataract is another complication. See hyaloideotapetoretinal degeneration of Favre (268100). </p><p>Graemiger et al. (1995) examined 60 members of the Swiss kindred originally studied by Wagner (1938). Twenty-eight members were found to be affected. The most consistent finding was an empty vitreous cavity with avascular strands or veils. Chorioretinal atrophy and cataract increased with age and occurred in all patients older than 45 years. Four patients had a history of a rhegmatogenous retinal detachment in 1 eye, which occurred at a median age of 20 years. Peripheral traction retinal detachments were found in 55% of eyes among patients older than 45 years. Glaucoma was present in 10 eyes (18%), 4 of which showed neovascular glaucoma. Of all patients, 63% showed elevated rod and cone thresholds on dark adaptation, and 87% showed subnormal b-wave amplitudes of the rod and cone systems on electroretinography. Thus, clinical expressivity of the disorder varied from unaffected carriers to bilateral blindness. Progression of the chorioretinal pathology was paralleled by electrophysiologic abnormalities. </p><p>Zech et al. (1999) examined 20 affected individuals from a large 4-generation French family with bilateral vitreoretinal degeneration without extraocular abnormalities. Peripheral avascular vitreous veils were seen in all 20 patients, 7 of whom were younger than 15 years. Chorioretinal changes included peripheral alteration of the pigmentary epithelium in 7 patients, lattice degeneration in 6, and chorioretinal atrophy involving the retinal periphery and posterior pole in 2. Rhegmatogenous retinal detachment had occurred in 3 patients, and slight tractional detachment was observed in 3. Presenile cataracts progressed by the third decade and required removal in 11 patients; surgery was bilateral in 8 patients. Refraction was performed in all 20 patients; visual acuity was usually normal in young patients, and severely reduced in older patients. </p><p>Miyamoto et al. (2005) studied a large Japanese family with Wagner syndrome. Ocular phenotypes of affected members included an empty vitreous with fibrillary condensations, avascular membrane, perivascular sheathing, and progressive chorioretinal dystrophy and were similar to those of the original Wagner syndrome family. All affected eyes examined exhibited pseudoexotropia with ectopic fovea. No systemic manifestations were observed. </p><p>Wagner syndrome is often confused with Stickler syndrome (STL1; 108300) which is caused by mutations in the type II collagen gene (COL2A1; 120140). Like certain mutations in COL2A1 that result in a predominantly ocular or ocular-only phenotype, Wagner syndrome has no systemic features (Richards et al., 2006). However, the vitreoretinal phenotype is different, as neither of the recognized vitreous abnormalities in Stickler syndrome are present in Wagner syndrome and there is a lower incidence of retinal detachment. In addition, patients with Wagner syndrome have poor dark adaptation, which results in night blindness; this can be demonstrated by electrodiagnosis. </p><p>Brezin et al. (2011) studied a 4-generation French family with a severe vitreoretinal disorder in which affected individuals exhibited a range of highly variable phenotypes, from exudative vascular abnormalities and diffuse retinal atrophy with pigment clumping to nasally deviated retinal vessels with ectopic foveas. Affected family members manifested retinal detachment at an early age, with variable anterior segment features, including moderate myopia, glaucoma, cataracts, and ectopia lentis. Brezin et al. (2011) noted that visual impairment in this pedigree was highly significant; among 10 affected family members, 3 were totally blind and 5 other patients had completely lost vision in 1 eye. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The transmission pattern of WGVRP in the family reported by Miyamoto et al. (2005) was consistent with autosomal dominant inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Brown et al. (1994) concluded that erosive vitreoretinopathy (ERVR) is very similar to Wagner disease. Brown et al. (1995) presented linkage evidence that erosive vitreoretinopathy and Wagner disease are allelic disorders, which are distinct from COL2A1-associated Stickler syndrome. Brown et al. (1995) demonstrated that ERVR and Wagner disease map to 5q13-q14. </p><p>Black et al. (1999) reported a family in which multiple members through at least 4 generations suffered from a hereditary vitreoretinopathy associated with a variety of ocular developmental abnormalities, including posterior embryotoxon, congenital glaucoma, iris hypoplasia, congenital cataract, ectopia lentis, microphthalmia, and persistent hyperplastic primary vitreous. Genetic linkage studies mapped the disorder to markers from the proximal region of 5q13-q14, specifically to the 5-cM region between markers D5S626 and D5S2103. Both Wagner and erosive vitreoretinopathies had been mapped to the same region, suggesting that the condition in the family studied by Black et al. (1999) is allelic. </p><p>In a large 4-generation French family with ERVR, Zech et al. (1999) obtained a maximum 2-point lod score of 5.6 (theta = 0) at marker CRTL1 (HAPLN1; 115435) GT repeat and a maximum multipoint lod score of 5.8 (theta = 0) for markers D5S2029, CRTL1 GT repeat, and D5S459. Recombination events narrowed the disease locus to a 20-cM region between D5S650 and D5S618. </p><p>Using 13 microsatellite markers, Mukhopadhyay et al. (2006) determined the 5q14.3 haplotypes in affected individuals from 6 Dutch families with vitreoretinopathy. All patients from 5 of the families, including 4 families diagnosed with Wagner syndrome and 1 diagnosed with ERVR, showed the same haplotype for an 850-kb critical region between D5S626 and D5S107, suggesting a founder allele in the Netherlands. </p><p>In a 4-generation French family with a severe vitreoretinal disorder, Brezin et al. (2011) found significant evidence for linkage with markers D5S641 (Z = 3.36; theta = 0) and D5S2103 (Z = 2.89; theta = 0), indicating a critical disease interval for the WGN1 locus on 5q13-q14. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>In a large Japanese family with vitreoretinopathy that segregated with the previously identified WGN1 locus on 5q13-q14, Miyamoto et al. (2005) identified a heterozygous splice site mutation in intron 7 of the CSPG2 gene (VCAN; 118661.0001) that cosegregated with the disease. </p><p>In the large 5-generation Swiss family with vitreoretinopathy originally described by Wagner (1938), Kloeckener-Gruissem et al. (2006) analyzed 2 positional candidate genes on chromosome 5q13-q14 and identified a heterozygous splice site mutation in intron 8 of the VCAN gene (118661.0002) that segregated with disease. </p><p>Mukhopadhyay et al. (2006) studied 8 multigenerational families diagnosed with vitreoretinopathy, 7 of which were of Dutch origin. All affected members of the Dutch families were heterozygous for 1 of 3 splice site mutations in intron 7 of the VCAN gene (118661.0003-118661.0005), including a family diagnosed with erosive vitreoretinopathy. However, no causal variant was identified in the eighth family, which was of Chinese origin. Affected ancestors of 5 of the Dutch families, which shared a common founder haplotype on chromosome 5q14.3, were traced to the same geographic region of the Netherlands; Mukhopadhyay et al. (2006) stated that these 5 families harbored more than 90% of all Dutch patients with Wagner vitreoretinopathy. </p><p>In a 4-generation French family with a severe vitreoretinal disorder mapping to 5q13-q14, in which some patients exhibited exudative vascular features (see EVR1, 133780) but in whom no mutations were found in EVR-associated genes, Brezin et al. (2011) identified a heterozygous splice site mutation in intron 7 of the VCAN gene (118661.0006) that segregated with disease and was not found in 100 French controls. </p><p>Kloeckener-Gruissem et al. (2013) sequenced the VCAN gene in the British family with Wagner vitreoretinopathy previously studied by Fryer et al. (1990) and in the French family previously described by Zech et al. (1999), and identified 2 heterozygous splice site mutations, in introns 8 and 7 of the VCAN gene, respectively, that segregated with disease in each family (118661.0007 and 118661.0008). </p><p><strong><em>Exclusion Studies</em></strong></p><p>
|
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Fryer et al. (1990) studied a large British family with Wagner vitreoretinal degeneration but none of the nonocular features of Stickler syndrome. They demonstrated recombination with the COL2A1 locus (120140), thus excluding that gene as the site of the mutation. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Differentiation of the Wagner syndrome and the Stickler syndrome is difficult. Liberfarb et al. (1978, 1981) suggested that the syndromes of Wagner and Stickler are the same. They restudied 3 families reported by Hirose et al. (1973). Blair et al. (1979) reported the clinical and histopathologic findings in 3 severely diseased eyes from 3 patients in 2 families. They concluded that the Stickler and Wagner syndromes are the same disorder. One reason for hesitation in complete acceptance of identity of the Wagner and Stickler syndromes is the fact that retinal detachment was not noted in any of the 28 members of the original Swiss family studied by Wagner (1938) and later by Boehringer et al. (1960) and Ricci (1961). </p><p>Korkko et al. (1993) noted phenotypic similarity to the family described by Wagner (1938) in a family in which they found a COL2A1 mutation (120140.0014). The family had early-onset cataracts, lattice degeneration of the retina, and retinal detachment with no involvement of nonocular tissues. Miyamoto et al. (2005) classified the family of Korkko et al. (1993) as an example of Stickler syndrome. Richards et al. (2006) suggested that the family of Korkko et al. (1993) could be an example of predominantly ocular Stickler syndrome or dominantly inherited rhegmatogenous retinal detachment. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
|
Bundey and Leffler (1974)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Black, G. C. M., Perveen, R., Wiszniewski, W., Dodd, C. L., Donnai, D., McLeod, D.
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<strong>A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14.</strong>
|
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Ophthalmology 106: 2074-2081, 1999.
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[PubMed: 10571340]
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[Full Text: https://doi.org/10.1016/S0161-6420(99)90486-4]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Blair, N. P., Albert, D. M., Liberfarb, R. M., Hirose, T.
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<strong>Hereditary progressive arthro-ophthalmopathy of Stickler.</strong>
|
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Am. J. Ophthal. 88: 876-888, 1979.
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[PubMed: 507166]
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[Full Text: https://doi.org/10.1016/0002-9394(79)90566-x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Boehringer, H. R., Dieterle, P., Landolt, E.
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<strong>Zur Klinik und Pathologie der degeneratio hyaloideo-retinalis hereditaria (Wagner).</strong>
|
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Ophthalmologica 139: 330-338, 1960.
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[PubMed: 13802004]
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[Full Text: https://doi.org/10.1159/000303718]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Brezin, A. P., Nedelec, B., Barjol, A., Rothschild, P.-R., Delpech, M., Valleix, S.
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<strong>A new VCAN/versican splice acceptor site mutation in a French Wagner family associated with vascular and inflammatory ocular features.</strong>
|
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Molec. Vis. 17: 1669-1678, 2011.
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[PubMed: 21738396]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Brown, D. M., Graemiger, R. A., Hergersberg, M., Schinzel, A., Messmer, E. P., Niemeyer, G., Schneeberger, S. A., Streb, L. M., Taylor, C. M., Kimura, A. E., Weingeist, T. A., Sheffield, V. C., Stone, E. M.
|
|
<strong>Genetic linkage of Wagner disease and erosive vitreoretinopathy to chromosome 5q13-14.</strong>
|
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Arch. Ophthal. 113: 671-675, 1995.
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[PubMed: 7748141]
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[Full Text: https://doi.org/10.1001/archopht.1995.01100050139045]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Brown, D. M., Kimura, A. E., Weingeist, T. A., Stone, E. M.
|
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<strong>Erosive vitreoretinopathy: a new clinical entity.</strong>
|
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Ophthalmology 101: 694-704, 1994.
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[PubMed: 8152765]
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[Full Text: https://doi.org/10.1016/s0161-6420(94)31276-0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Bundey, S. E., Leffler, A. T.
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<strong>Retinal degeneration and midline submucous cleft of the palate (Wagner-Cervenka syndrome).</strong>
|
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Birth Defects Orig. Art. Ser. X(4): 342-343, 1974.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Fryer, A. E., Upadhyaya, M., Littler, M., Bacon, P., Watkins, D., Tsipouras, P., Harper, P. S.
|
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<strong>Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome.</strong>
|
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J. Med. Genet. 27: 91-93, 1990.
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[PubMed: 2319589]
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[Full Text: https://doi.org/10.1136/jmg.27.2.91]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Graemiger, R. A., Niemeyer, G., Schneeberger, S. A., Messmer, E. P.
|
|
<strong>Wagner vitreoretinal degeneration: follow-up of the original pedigree.</strong>
|
|
Ophthalmology 102: 1830-1839, 1995.
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[PubMed: 9098284]
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[Full Text: https://doi.org/10.1016/s0161-6420(95)30787-7]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hirose, T., Lee, K. Y., Schepens, C. L.
|
|
<strong>Wagner's hereditary vitreoretinal degeneration and retinal detachment.</strong>
|
|
Arch. Ophthal. 89: 176-185, 1973.
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[PubMed: 4691317]
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[Full Text: https://doi.org/10.1001/archopht.1973.01000040178003]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Jansen, L. M. A. A.
|
|
<strong>Degeneratio hyaloideo-retinalis hereditaria.</strong>
|
|
Ophthalmologica 144: 458-464, 1962.
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[PubMed: 14041873]
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[Full Text: https://doi.org/10.1159/000304398]
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</p>
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Kloeckener-Gruissem, B., Bartholdi, D., Abdou, M.-T., Zimmermann, D. R., Berger, W.
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<strong>Identification of the genetic defect in the original Wagner syndrome family.</strong>
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Kloeckener-Gruissem, B., Neidhardt, J., Magyar, I., Plauchu, H., Zech, J.-C., Morle, L., Palmer-Smith, S. M., MacDonald, M. J., Nas, V., Fry, A. E., Berger, W.
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<strong>Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.</strong>
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Korkko, J., Ritvaniemi, P., Haataja, L., Kaariainen, H., Kivirikko, K. I., Prockop, D. J., Ala-Kokko, L.
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<strong>Mutation in type II procollagen (COL2A1) that substitutes aspartate for glycine alpha-I-67 and that causes cataracts and retinal detachment: evidence for molecular heterogeneity in the Wagner syndrome and the Stickler syndrome (arthro-ophthalmopathy).</strong>
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Am. J. Hum. Genet. 53: 55-61, 1993.
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<p class="mim-text-font">
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Liberfarb, R. M., Hirose, T., Holmes, L. B.
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<strong>Wagner-Stickler syndrome: a genetic study. (Abstract)</strong>
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Pediat. Res. 12: 452 only, 1978.
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<p class="mim-text-font">
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Liberfarb, R. M., Hirose, T., Holmes, L. B.
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<strong>The Wagner-Stickler syndrome: a study of 22 families.</strong>
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J. Pediat. 99: 394-399, 1981.
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[PubMed: 7264793]
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[Full Text: https://doi.org/10.1016/s0022-3476(81)80324-1]
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Miyamoto, T., Inoue, H., Sakamoto, Y., Kudo, E., Naito, T., Mikawa, T., Mikawa, Y., Isashiki, Y., Osabe, D., Shinohara, S., Shiota, H., Itakura, M.
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<strong>Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.</strong>
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Invest. Ophthal. Vis. Sci. 46: 2726-2735, 2005.
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[PubMed: 16043844]
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[Full Text: https://doi.org/10.1167/iovs.05-0057]
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Mukhopadhyay, A., Nikopoulos, K., Maugeri, A., de Brouwer, A. P. M., van Nouhuys, C. E., Boon, C. J. F., Perveen, R., Zegers, H. A. A., Wittebol-Post, D., van den Biesen, P. R., van der Velde-Visser, S. D., Brunner, H. G., Black, G. C. M., Hoyng, C. B., Cremers, F. P. M.
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<strong>Erosive vitreoretinopathy and Wagner disease are caused by intronic mutations in CSPG2/versican that result in an imbalance of splice variants.</strong>
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Invest. Ophthal. Vis. Sci. 47: 3565-3572, 2006.
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<li>
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<p class="mim-text-font">
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Ricci, A.
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<strong>Clinique et transmission hereditaire des degenerescences vitreo-retiniennes.</strong>
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Bull. Soc. Ophtal. Franc. 61: 618-662, 1961.
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<li>
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Richards, A. J., Laidlaw, M., Whittaker, J., Treacy, B., Rai, H., Bearcroft, P., Baguley, D. M., Poulson, A., Ang, A., Scott, J. D., Snead, M. P.
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<strong>High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1.</strong>
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Hum. Mutat. 27: 696-704, 2006. Note: Erratum: Hum. Mutat. 27: 1156 only, 2006.
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[PubMed: 16752401]
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[Full Text: https://doi.org/10.1002/humu.20347]
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<p class="mim-text-font">
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Wagner, H.
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<strong>Ein bisher unbekanntes Erbleiden des Auges (degeneratio hyaloideo-retinalis hereditaria), beobachtet im Kanton Zurich.</strong>
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Klin. Monatsbl. Augenheilkd. 100: 840-858, 1938.
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Zech, J.-C., Morle, L., Vincent, P., Alloisio, N., Bozon, M., Gonnet, C., Milazzo, S., Grange, J.-D., Trepsat, C., Todet, J., Plauchu, H.
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<strong>Wagner vitreoretinal degeneration with genetic linkage refinement on chromosome 5q13-q14.</strong>
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Graefes Arch. Clin. Exp. Ophthal. 237: 387-393, 1999.
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[PubMed: 10333105]
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[Full Text: https://doi.org/10.1007/s004170050249]
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