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Entry
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- #610048 - CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD
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- OMIM
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<p>
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<span class="h4">#610048</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/610048"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</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="#clinicalManagement">Clinical Management</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="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div style="display: table-row">
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=CORNEAL DYSTROPHY, CONGENITAL STROMAL" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14779&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.ncbi.nlm.nih.gov/books/NBK2690/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8083" 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/congenital-stromal-corneal-dystrophy" 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=610048[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=101068" 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 class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060445" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/610048" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a 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> 702359002<br />
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<strong>ORPHA:</strong> 101068<br />
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<strong>DO:</strong> 0060445<br />
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">ICD+</a>
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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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610048
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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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CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD
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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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CONGENITAL STROMAL CORNEAL DYSTROPHY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/12/677?start=-3&limit=10&highlight=677">
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12q21.33
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Corneal dystrophy, congenital stromal
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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/610048"> 610048 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</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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</td>
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<td>
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<span class="mim-font">
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DCN
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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/125255"> 125255 </a>
|
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</span>
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</td>
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</tr>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/610048" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/610048" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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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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- 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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- Corneal stromal opacification, congenital progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552243&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552243</a>]</span><br /> -
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Visual loss, progressive painless <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552244&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552244</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7973008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7973008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H54.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H54.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/369.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">369.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000572" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000572</a>]</span><br /> -
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Increased corneal thickness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3810451&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3810451</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011487</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011487</a>]</span><br /> -
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Abnormal fibrils in stroma on electron microscopy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3807992&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3807992</a>]</span><br /> -
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No corneal erosions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552245</a>]</span><br /> -
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Photophobia, severe (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750203&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750203</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409668002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409668002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246622003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246622003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.14</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Complete penetrance<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the decorin gene (DCN, <a href="/entry/125255#0001">125255.0001</a>)<br />
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that congenital stromal corneal dystrophy (CSCD) is caused by heterozygous mutation in the gene encoding decorin (DCN; <a href="/entry/125255">125255</a>) on chromosome 12q21.</p>
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<p>Congenital stromal corneal dystrophy (CSCD) is a rare autosomal dominant eye disease characterized by diffuse bilateral corneal clouding with flake-like whitish opacities throughout the stroma. These small flakes and spots are present at or shortly after birth and are thought to become more numerous with age. Some affected individuals may have strabismus or nystagmus. Normal corneal thickness, horizontal diameter, and endothelial function distinguish the condition from congenital corneal opacifications such as posterior polymorphous dystrophy (see <a href="/entry/122000">122000</a>) and congenital glaucoma (see <a href="/entry/137760">137760</a>). Most individuals undergo a penetrating keratoplasty in late adolescence or in early adulthood with good results (summary by <a href="#4" class="mim-tip-reference" title="Kim, J., Ko, J. M., Lee, I., Kim, J. Y., Kim, M. J., Tchah, H. <strong>A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy.</strong> Cornea 30: 1473-1477, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21993463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21993463</a>] [<a href="https://doi.org/10.1097/ICO.0b013e3182137788" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21993463">Kim et al., 2011</a> and <a href="#3" class="mim-tip-reference" title="Jing, Y., Kumar, P. R., Zhu, L., Edward, D. P., Tao, S., Wang, L., Chuck, R., Zhang, C. <strong>Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy.</strong> Cornea 33: 288-293, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24413633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24413633</a>] [<a href="https://doi.org/10.1097/ICO.0000000000000055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24413633">Jing et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21993463+24413633" 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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<strong>Clinical Features</strong>
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<p><a href="#6" class="mim-tip-reference" title="Odland, M. <strong>Dystrophia corneae parenchymatosa congenita: a clinical, morphological and histochemical examination.</strong> Acta Ophthal. (Copenh) 46: 477-485, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5304426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5304426</a>] [<a href="https://doi.org/10.1111/j.1755-3768.1968.tb02832.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5304426">Odland (1968)</a> described a Norwegian family with autosomal dominant inheritance of congenital corneal opacities that consisted of a large number of flakes and spots throughout all layers of the stroma. In 4 generations there were 11 affected members. Opacities increased with age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5304426" 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="Bredrup, C., Knappskog, P. M., Majewski, J., Rodahl, E., Boman, H. <strong>Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.</strong> Invest. Ophthal. Vis. Sci. 46: 420-426, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671264</a>] [<a href="https://doi.org/10.1167/iovs.04-0804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671264">Bredrup et al. (2005)</a> restudied the family of <a href="#6" class="mim-tip-reference" title="Odland, M. <strong>Dystrophia corneae parenchymatosa congenita: a clinical, morphological and histochemical examination.</strong> Acta Ophthal. (Copenh) 46: 477-485, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5304426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5304426</a>] [<a href="https://doi.org/10.1111/j.1755-3768.1968.tb02832.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5304426">Odland (1968)</a> into the fifth generation. The opacities, which were equally pronounced in all areas of the cornea, prohibited detailed clinical study of the endothelium. Fluorescein staining revealed no signs of vascularization. Corneal sensitivity was normal or slightly reduced. The patients did not have other ocular symptoms, especially corneal erosions or photophobia. Four of 11 affected family members had strabismus (3 esotropia, 1 exotropia). Three eyes from 2 individuals had primary open-angle glaucoma No systemic abnormalities or malformations were recorded. Specifically, there were no recognized problems related to skin, teeth, joints, or bones. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15671264+5304426" 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="Turpin, R., Tisserand, M., Serane, J. <strong>Opacites corneennes hereditaires et congenitales reparties sur trois generations et atteignant deux jumelles monozygotes.</strong> Arch. Ophtal. (Paris) 3: 109-111, 1939."None>Turpin et al. (1939)</a> and <a href="#2" class="mim-tip-reference" title="Desvignes, P., Vigo, (NI). <strong>A case of corneal and parenchymal dystrophy of dominant type.</strong> Bull. Soc. Ophtal. Franc. 4: 220-225, 1955.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14378991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14378991</a>]" pmid="14378991">Desvignes and Vigo (1955)</a> studied the same French family in which 13 were affected in 3 consecutive generations with 5 instances of male-to-male transmission. <a href="#11" class="mim-tip-reference" title="Witschel, H., Fine, B. S., Grutzner, P., McTigue, J. W. <strong>Congenital hereditary stromal dystrophy of the cornea.</strong> Arch. Ophthal. 96: 1043-1051, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/350201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">350201</a>] [<a href="https://doi.org/10.1001/archopht.1978.03910050563015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="350201">Witschel et al. (1978)</a> reported a branch of this family and another unrelated pedigree. <a href="#7" class="mim-tip-reference" title="Pouliquen, Y., Lacombe, E., Schreinzer, C., Giraud, J. P., Savoldelli, M. <strong>La dystrophie congenitale hereditaire du stroma corneen de Turpin.</strong> J. Franc. Ophtal. 2: 115-125, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/312637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">312637</a>]" pmid="312637">Pouliquen et al. (1979)</a> included the family of <a href="#9" class="mim-tip-reference" title="Turpin, R., Tisserand, M., Serane, J. <strong>Opacites corneennes hereditaires et congenitales reparties sur trois generations et atteignant deux jumelles monozygotes.</strong> Arch. Ophtal. (Paris) 3: 109-111, 1939."None>Turpin et al. (1939)</a> in their report. <a href="#10" class="mim-tip-reference" title="Van Ginderdeuren, R., De Vos, R., Casteels, I., Foets, B. <strong>Report of a new family with dominant congenital heredity stromal dystrophy of the cornea.</strong> Cornea 21: 118-120, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11805522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11805522</a>] [<a href="https://doi.org/10.1097/00003226-200201000-00025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11805522">Van Ginderdeuren et al. (2002)</a> reported an affected mother and son. <a href="#1" class="mim-tip-reference" title="Bredrup, C., Knappskog, P. M., Majewski, J., Rodahl, E., Boman, H. <strong>Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.</strong> Invest. Ophthal. Vis. Sci. 46: 420-426, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671264</a>] [<a href="https://doi.org/10.1167/iovs.04-0804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671264">Bredrup et al. (2005)</a> summarized the clinical findings in these and their own studies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11805522+15671264+312637+14378991+350201" 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="Kim, J., Ko, J. M., Lee, I., Kim, J. Y., Kim, M. J., Tchah, H. <strong>A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy.</strong> Cornea 30: 1473-1477, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21993463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21993463</a>] [<a href="https://doi.org/10.1097/ICO.0b013e3182137788" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21993463">Kim et al. (2011)</a> described a 29-year-old Korean woman and her 1-year-old daughter who both had bilateral diffuse corneal opacity from birth, with only slightly increased central corneal thickness and no photophobia, nystagmus, or strabismus. Electron microscopy of surgically excised stroma showed features similar to those of previous reports, with normal lamellae composed of collagen but separated by abnormal fibers randomly arranged in electron-lucent layers. The appearance of the corneal epithelium and the basement membrane was within normal limits, and normal keratocytes without inclusions were also seen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21993463" 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="#3" class="mim-tip-reference" title="Jing, Y., Kumar, P. R., Zhu, L., Edward, D. P., Tao, S., Wang, L., Chuck, R., Zhang, C. <strong>Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy.</strong> Cornea 33: 288-293, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24413633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24413633</a>] [<a href="https://doi.org/10.1097/ICO.0000000000000055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24413633">Jing et al. (2014)</a> studied a 3-generation Chinese family in which 5 members had CSCD. Confocal microscopy and optical coherence tomography (OCT) analysis demonstrated that corneal opacities develop throughout the stromal layers, with more opacities in the anterior stroma and scattered opacities in the posterior peripheral stroma. Electron microscopic findings were similar to those of <a href="#11" class="mim-tip-reference" title="Witschel, H., Fine, B. S., Grutzner, P., McTigue, J. W. <strong>Congenital hereditary stromal dystrophy of the cornea.</strong> Arch. Ophthal. 96: 1043-1051, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/350201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">350201</a>] [<a href="https://doi.org/10.1001/archopht.1978.03910050563015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="350201">Witschel et al. (1978)</a>, with abundant irregularly arranged, slightly thinned collagen filaments between normal-appearing collagen lamellae. In electron-lucent zones, the poorly formed collagen filaments were much thinner, with a diameter about half that of normal fibrils. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24413633+350201" 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="Odland, M. <strong>Dystrophia corneae parenchymatosa congenita: a clinical, morphological and histochemical examination.</strong> Acta Ophthal. (Copenh) 46: 477-485, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5304426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5304426</a>] [<a href="https://doi.org/10.1111/j.1755-3768.1968.tb02832.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5304426">Odland (1968)</a> reported that 2 of the affected individuals had undergone keratoplasty, one lamellar and the other penetrating. Both types of grafts improved the visual acuity significantly, restoring reading vision, and were clear at the time of publication. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5304426" 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>At the time of the report of <a href="#1" class="mim-tip-reference" title="Bredrup, C., Knappskog, P. M., Majewski, J., Rodahl, E., Boman, H. <strong>Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.</strong> Invest. Ophthal. Vis. Sci. 46: 420-426, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671264</a>] [<a href="https://doi.org/10.1167/iovs.04-0804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671264">Bredrup et al. (2005)</a>, 18 eyes had been treated with penetrating keratoplasty, with 7 individuals having been treated bilaterally and the remaining 4 unilaterally. The mean age at surgery was 20 years (range, 6-44 years). Ten of 18 transplanted corneas were clear, whereas 6 showed minimal changes; 2 patients had 1 eye with moderate to severe opacities, similar to those of the remaining host cornea. Both <a href="#6" class="mim-tip-reference" title="Odland, M. <strong>Dystrophia corneae parenchymatosa congenita: a clinical, morphological and histochemical examination.</strong> Acta Ophthal. (Copenh) 46: 477-485, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5304426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5304426</a>] [<a href="https://doi.org/10.1111/j.1755-3768.1968.tb02832.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5304426">Odland (1968)</a> and <a href="#1" class="mim-tip-reference" title="Bredrup, C., Knappskog, P. M., Majewski, J., Rodahl, E., Boman, H. <strong>Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.</strong> Invest. Ophthal. Vis. Sci. 46: 420-426, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671264</a>] [<a href="https://doi.org/10.1167/iovs.04-0804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671264">Bredrup et al. (2005)</a> described the histopathology of the buttons removed during keratoplasty, noting diffuse stromal edema and disorganization of the fibrillar architecture of the corneal lamellae. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15671264+5304426" 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 congenital stromal corneal dystrophy in the families reported by <a href="#6" class="mim-tip-reference" title="Odland, M. <strong>Dystrophia corneae parenchymatosa congenita: a clinical, morphological and histochemical examination.</strong> Acta Ophthal. (Copenh) 46: 477-485, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5304426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5304426</a>] [<a href="https://doi.org/10.1111/j.1755-3768.1968.tb02832.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5304426">Odland (1968)</a> and <a href="#9" class="mim-tip-reference" title="Turpin, R., Tisserand, M., Serane, J. <strong>Opacites corneennes hereditaires et congenitales reparties sur trois generations et atteignant deux jumelles monozygotes.</strong> Arch. Ophtal. (Paris) 3: 109-111, 1939."None>Turpin et al. (1939)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5304426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Bredrup, C., Knappskog, P. M., Majewski, J., Rodahl, E., Boman, H. <strong>Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.</strong> Invest. Ophthal. Vis. Sci. 46: 420-426, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671264</a>] [<a href="https://doi.org/10.1167/iovs.04-0804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671264">Bredrup et al. (2005)</a> performed a genomewide screening that revealed linkage to chromosome 12q22 with a maximum lod score of 4.68 at marker D12S351. High-resolution mapping subsequently narrowed the candidate region to an 8.4-Mb region between markers D12S1719 and D12S101. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15671264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Bredrup, C., Knappskog, P. M., Majewski, J., Rodahl, E., Boman, H. <strong>Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.</strong> Invest. Ophthal. Vis. Sci. 46: 420-426, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671264</a>] [<a href="https://doi.org/10.1167/iovs.04-0804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671264">Bredrup et al. (2005)</a> identified a heterozygous deletion of 1 bp in exon 10 of the decorin gene (<a href="/entry/125255#0001">125255.0001</a>) in all affected members of the family originally described by <a href="#6" class="mim-tip-reference" title="Odland, M. <strong>Dystrophia corneae parenchymatosa congenita: a clinical, morphological and histochemical examination.</strong> Acta Ophthal. (Copenh) 46: 477-485, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5304426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5304426</a>] [<a href="https://doi.org/10.1111/j.1755-3768.1968.tb02832.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5304426">Odland (1968)</a>. <a href="#1" class="mim-tip-reference" title="Bredrup, C., Knappskog, P. M., Majewski, J., Rodahl, E., Boman, H. <strong>Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.</strong> Invest. Ophthal. Vis. Sci. 46: 420-426, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671264</a>] [<a href="https://doi.org/10.1167/iovs.04-0804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671264">Bredrup et al. (2005)</a> postulated that the defective interaction of mutant decorin with collagen would disturb the regularity of corneal collagen in affected heterozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15671264+5304426" 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 Belgian mother and son with CSCD originally reported by <a href="#10" class="mim-tip-reference" title="Van Ginderdeuren, R., De Vos, R., Casteels, I., Foets, B. <strong>Report of a new family with dominant congenital heredity stromal dystrophy of the cornea.</strong> Cornea 21: 118-120, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11805522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11805522</a>] [<a href="https://doi.org/10.1097/00003226-200201000-00025" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11805522">van Ginderdeuren et al. (2002)</a>, <a href="#8" class="mim-tip-reference" title="Rodahl, E., Van Ginderdeuren, R., Knappskog, P. M., Bredrup, C., Boman, H. <strong>A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.</strong> Am. J. Ophthal. 142: 520-521, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16935612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16935612</a>] [<a href="https://doi.org/10.1016/j.ajo.2006.03.064" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16935612">Rodahl et al. (2006)</a> identified heterozygosity for a 1-bp deletion in the DCN gene (<a href="/entry/125255#0002">125255.0002</a>), causing a frameshift predicted to result in a stop codon at the same codon as the frameshift mutation (<a href="/entry/125255#0001">125255.0001</a>) in the Norwegian family studied by <a href="#1" class="mim-tip-reference" title="Bredrup, C., Knappskog, P. M., Majewski, J., Rodahl, E., Boman, H. <strong>Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.</strong> Invest. Ophthal. Vis. Sci. 46: 420-426, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671264</a>] [<a href="https://doi.org/10.1167/iovs.04-0804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15671264">Bredrup et al. (2005)</a>. In contrast to affected individuals in the Norwegian family, the Belgian mother and son both had severe photophobia, and the affected corneas appeared to be of normal thickness. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16935612+15671264+11805522" 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 Korean mother and daughter with CSCD, <a href="#4" class="mim-tip-reference" title="Kim, J., Ko, J. M., Lee, I., Kim, J. Y., Kim, M. J., Tchah, H. <strong>A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy.</strong> Cornea 30: 1473-1477, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21993463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21993463</a>] [<a href="https://doi.org/10.1097/ICO.0b013e3182137788" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21993463">Kim et al. (2011)</a> identified heterozygosity for a 1-bp deletion in DCN (<a href="/entry/125255#0003">125255.0003</a>); the mutation was not found in the mother's unaffected son. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21993463" 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 5 affected members of a 3-generation Chinese family segregating autosomal dominant CSCD, <a href="#3" class="mim-tip-reference" title="Jing, Y., Kumar, P. R., Zhu, L., Edward, D. P., Tao, S., Wang, L., Chuck, R., Zhang, C. <strong>Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy.</strong> Cornea 33: 288-293, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24413633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24413633</a>] [<a href="https://doi.org/10.1097/ICO.0000000000000055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24413633">Jing et al. (2014)</a> identified heterozygosity for a 1-bp deletion in the DCN gene (<a href="/entry/125255#0004">125255.0004</a>) that was not present in unaffected family members or in 50 healthy controls. <a href="#3" class="mim-tip-reference" title="Jing, Y., Kumar, P. R., Zhu, L., Edward, D. P., Tao, S., Wang, L., Chuck, R., Zhang, C. <strong>Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy.</strong> Cornea 33: 288-293, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24413633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24413633</a>] [<a href="https://doi.org/10.1097/ICO.0000000000000055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24413633">Jing et al. (2014)</a> noted that all 4 CSCD-associated frameshift mutations that had been reported cause a premature termination codon with loss of the 33 C-terminal amino acids of the decorin proteoglycan, suggesting that exon 8 is a mutational hotspot and a functionally important region of DCN. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24413633" 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="#5" class="mim-tip-reference" title="Mellgren, A. E. C., Bruland, O., Vedeler, A., Saraste, J., Schonheit, J., Bredrup, C., Knappskog, P. M., Rodahl, E. <strong>Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin.</strong> Invest. Ophthal. Vis. Sci. 56: 2909-2915, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26029887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26029887</a>] [<a href="https://doi.org/10.1167/iovs.14-16014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26029887">Mellgren et al. (2015)</a> found that mice with a knock-in Dcn 952delT mutation, corresponding to the human 927delT mutation in CSCD, did not show any histologic organ pathology. Their corneas were clear, and the electron-lucent deposits observed in CSCD were not present. Whereas nearly equivalent amounts of normal and truncated decorin were present in CSCD corneas, truncated decorin was hardly detectable in the mouse corneas. By immunofluorescence analysis of the corneas from 952delT homozygous mice, decorin was found only in keratocytes. Truncated decorin was retained intracellularly in cells from mouse corneal explants, whereas truncated decorin was exported into the culture medium in cells from human CSCD corneas. Immunofluorescence analysis revealed that native mouse decorin localized within the Golgi complex, whereas the truncated decorin accumulated in the endoplasmic reticulum. <a href="#5" class="mim-tip-reference" title="Mellgren, A. E. C., Bruland, O., Vedeler, A., Saraste, J., Schonheit, J., Bredrup, C., Knappskog, P. M., Rodahl, E. <strong>Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin.</strong> Invest. Ophthal. Vis. Sci. 56: 2909-2915, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26029887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26029887</a>] [<a href="https://doi.org/10.1167/iovs.14-16014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26029887">Mellgren et al. (2015)</a> concluded that export of truncated decorin appeared to be a prerequisite to produce the amorphous deposits of decorin typical of CSCD and that the Dcn 952delT knock-in mice are not a suitable model for CSCD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26029887" 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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Bredrup, C., Knappskog, P. M., Majewski, J., Rodahl, E., Boman, H.
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<strong>Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.</strong>
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Invest. Ophthal. Vis. Sci. 46: 420-426, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15671264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15671264</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15671264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Desvignes, P., Vigo, (NI).
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<strong>A case of corneal and parenchymal dystrophy of dominant type.</strong>
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Bull. Soc. Ophtal. Franc. 4: 220-225, 1955.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14378991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14378991</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14378991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Jing, Y., Kumar, P. R., Zhu, L., Edward, D. P., Tao, S., Wang, L., Chuck, R., Zhang, C.
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<strong>Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy.</strong>
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Cornea 33: 288-293, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24413633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24413633</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24413633" 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/10.1097/ICO.0000000000000055" target="_blank">Full Text</a>]
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Kim, J., Ko, J. M., Lee, I., Kim, J. Y., Kim, M. J., Tchah, H.
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<strong>A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy.</strong>
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Cornea 30: 1473-1477, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21993463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21993463</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21993463" 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/10.1097/ICO.0b013e3182137788" target="_blank">Full Text</a>]
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Mellgren, A. E. C., Bruland, O., Vedeler, A., Saraste, J., Schonheit, J., Bredrup, C., Knappskog, P. M., Rodahl, E.
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<strong>Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin.</strong>
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Invest. Ophthal. Vis. Sci. 56: 2909-2915, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26029887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26029887</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26029887" 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.14-16014" target="_blank">Full Text</a>]
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Odland, M.
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<strong>Dystrophia corneae parenchymatosa congenita: a clinical, morphological and histochemical examination.</strong>
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Acta Ophthal. (Copenh) 46: 477-485, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5304426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5304426</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5304426" 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/10.1111/j.1755-3768.1968.tb02832.x" target="_blank">Full Text</a>]
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Pouliquen, Y., Lacombe, E., Schreinzer, C., Giraud, J. P., Savoldelli, M.
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<strong>La dystrophie congenitale hereditaire du stroma corneen de Turpin.</strong>
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J. Franc. Ophtal. 2: 115-125, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/312637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">312637</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=312637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Rodahl, E., Van Ginderdeuren, R., Knappskog, P. M., Bredrup, C., Boman, H.
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<strong>A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.</strong>
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Am. J. Ophthal. 142: 520-521, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16935612/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16935612</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16935612" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajo.2006.03.064" target="_blank">Full Text</a>]
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Turpin, R., Tisserand, M., Serane, J.
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<strong>Opacites corneennes hereditaires et congenitales reparties sur trois generations et atteignant deux jumelles monozygotes.</strong>
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Arch. Ophtal. (Paris) 3: 109-111, 1939.
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Van Ginderdeuren, R., De Vos, R., Casteels, I., Foets, B.
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<strong>Report of a new family with dominant congenital heredity stromal dystrophy of the cornea.</strong>
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Cornea 21: 118-120, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11805522/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11805522</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11805522" 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/10.1097/00003226-200201000-00025" target="_blank">Full Text</a>]
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Witschel, H., Fine, B. S., Grutzner, P., McTigue, J. W.
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<strong>Congenital hereditary stromal dystrophy of the cornea.</strong>
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Arch. Ophthal. 96: 1043-1051, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/350201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">350201</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=350201" 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.1978.03910050563015" target="_blank">Full Text</a>]
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Jane Kelly - updated : 09/14/2015
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Marla J. F. O'Neill - updated : 3/31/2014<br>Anne M. Stumpf - updated : 4/13/2006
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Jane Kelly : 4/13/2006
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carol : 03/21/2023
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carol : 09/14/2015<br>carol : 3/31/2014<br>mcolton : 3/31/2014<br>carol : 6/8/2012<br>carol : 8/13/2007<br>alopez : 4/13/2006
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<span class="mim-font">
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<strong>#</strong> 610048
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CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD
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CONGENITAL STROMAL CORNEAL DYSTROPHY
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<strong>SNOMEDCT:</strong> 702359002;
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<strong>ORPHA:</strong> 101068;
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<strong>DO:</strong> 0060445;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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12q21.33
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Corneal dystrophy, congenital stromal
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610048
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Autosomal dominant
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<span class="mim-font">
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3
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DCN
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125255
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that congenital stromal corneal dystrophy (CSCD) is caused by heterozygous mutation in the gene encoding decorin (DCN; 125255) on chromosome 12q21.</p>
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<strong>Description</strong>
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<p>Congenital stromal corneal dystrophy (CSCD) is a rare autosomal dominant eye disease characterized by diffuse bilateral corneal clouding with flake-like whitish opacities throughout the stroma. These small flakes and spots are present at or shortly after birth and are thought to become more numerous with age. Some affected individuals may have strabismus or nystagmus. Normal corneal thickness, horizontal diameter, and endothelial function distinguish the condition from congenital corneal opacifications such as posterior polymorphous dystrophy (see 122000) and congenital glaucoma (see 137760). Most individuals undergo a penetrating keratoplasty in late adolescence or in early adulthood with good results (summary by Kim et al., 2011 and Jing et al., 2014). </p>
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<strong>Clinical Features</strong>
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<p>Odland (1968) described a Norwegian family with autosomal dominant inheritance of congenital corneal opacities that consisted of a large number of flakes and spots throughout all layers of the stroma. In 4 generations there were 11 affected members. Opacities increased with age. </p><p>Bredrup et al. (2005) restudied the family of Odland (1968) into the fifth generation. The opacities, which were equally pronounced in all areas of the cornea, prohibited detailed clinical study of the endothelium. Fluorescein staining revealed no signs of vascularization. Corneal sensitivity was normal or slightly reduced. The patients did not have other ocular symptoms, especially corneal erosions or photophobia. Four of 11 affected family members had strabismus (3 esotropia, 1 exotropia). Three eyes from 2 individuals had primary open-angle glaucoma No systemic abnormalities or malformations were recorded. Specifically, there were no recognized problems related to skin, teeth, joints, or bones. </p><p>Turpin et al. (1939) and Desvignes and Vigo (1955) studied the same French family in which 13 were affected in 3 consecutive generations with 5 instances of male-to-male transmission. Witschel et al. (1978) reported a branch of this family and another unrelated pedigree. Pouliquen et al. (1979) included the family of Turpin et al. (1939) in their report. Van Ginderdeuren et al. (2002) reported an affected mother and son. Bredrup et al. (2005) summarized the clinical findings in these and their own studies. </p><p>Kim et al. (2011) described a 29-year-old Korean woman and her 1-year-old daughter who both had bilateral diffuse corneal opacity from birth, with only slightly increased central corneal thickness and no photophobia, nystagmus, or strabismus. Electron microscopy of surgically excised stroma showed features similar to those of previous reports, with normal lamellae composed of collagen but separated by abnormal fibers randomly arranged in electron-lucent layers. The appearance of the corneal epithelium and the basement membrane was within normal limits, and normal keratocytes without inclusions were also seen. </p><p>Jing et al. (2014) studied a 3-generation Chinese family in which 5 members had CSCD. Confocal microscopy and optical coherence tomography (OCT) analysis demonstrated that corneal opacities develop throughout the stromal layers, with more opacities in the anterior stroma and scattered opacities in the posterior peripheral stroma. Electron microscopic findings were similar to those of Witschel et al. (1978), with abundant irregularly arranged, slightly thinned collagen filaments between normal-appearing collagen lamellae. In electron-lucent zones, the poorly formed collagen filaments were much thinner, with a diameter about half that of normal fibrils. </p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Management</strong>
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<span class="mim-text-font">
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<p>Odland (1968) reported that 2 of the affected individuals had undergone keratoplasty, one lamellar and the other penetrating. Both types of grafts improved the visual acuity significantly, restoring reading vision, and were clear at the time of publication. </p><p>At the time of the report of Bredrup et al. (2005), 18 eyes had been treated with penetrating keratoplasty, with 7 individuals having been treated bilaterally and the remaining 4 unilaterally. The mean age at surgery was 20 years (range, 6-44 years). Ten of 18 transplanted corneas were clear, whereas 6 showed minimal changes; 2 patients had 1 eye with moderate to severe opacities, similar to those of the remaining host cornea. Both Odland (1968) and Bredrup et al. (2005) described the histopathology of the buttons removed during keratoplasty, noting diffuse stromal edema and disorganization of the fibrillar architecture of the corneal lamellae. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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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 congenital stromal corneal dystrophy in the families reported by Odland (1968) and Turpin et al. (1939) was consistent with autosomal dominant inheritance. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Bredrup et al. (2005) performed a genomewide screening that revealed linkage to chromosome 12q22 with a maximum lod score of 4.68 at marker D12S351. High-resolution mapping subsequently narrowed the candidate region to an 8.4-Mb region between markers D12S1719 and D12S101. </p>
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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 class="mim-text-font">
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<p>Bredrup et al. (2005) identified a heterozygous deletion of 1 bp in exon 10 of the decorin gene (125255.0001) in all affected members of the family originally described by Odland (1968). Bredrup et al. (2005) postulated that the defective interaction of mutant decorin with collagen would disturb the regularity of corneal collagen in affected heterozygotes. </p><p>In the Belgian mother and son with CSCD originally reported by van Ginderdeuren et al. (2002), Rodahl et al. (2006) identified heterozygosity for a 1-bp deletion in the DCN gene (125255.0002), causing a frameshift predicted to result in a stop codon at the same codon as the frameshift mutation (125255.0001) in the Norwegian family studied by Bredrup et al. (2005). In contrast to affected individuals in the Norwegian family, the Belgian mother and son both had severe photophobia, and the affected corneas appeared to be of normal thickness. </p><p>In a Korean mother and daughter with CSCD, Kim et al. (2011) identified heterozygosity for a 1-bp deletion in DCN (125255.0003); the mutation was not found in the mother's unaffected son. </p><p>In 5 affected members of a 3-generation Chinese family segregating autosomal dominant CSCD, Jing et al. (2014) identified heterozygosity for a 1-bp deletion in the DCN gene (125255.0004) that was not present in unaffected family members or in 50 healthy controls. Jing et al. (2014) noted that all 4 CSCD-associated frameshift mutations that had been reported cause a premature termination codon with loss of the 33 C-terminal amino acids of the decorin proteoglycan, suggesting that exon 8 is a mutational hotspot and a functionally important region of DCN. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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<span class="mim-text-font">
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<p>Mellgren et al. (2015) found that mice with a knock-in Dcn 952delT mutation, corresponding to the human 927delT mutation in CSCD, did not show any histologic organ pathology. Their corneas were clear, and the electron-lucent deposits observed in CSCD were not present. Whereas nearly equivalent amounts of normal and truncated decorin were present in CSCD corneas, truncated decorin was hardly detectable in the mouse corneas. By immunofluorescence analysis of the corneas from 952delT homozygous mice, decorin was found only in keratocytes. Truncated decorin was retained intracellularly in cells from mouse corneal explants, whereas truncated decorin was exported into the culture medium in cells from human CSCD corneas. Immunofluorescence analysis revealed that native mouse decorin localized within the Golgi complex, whereas the truncated decorin accumulated in the endoplasmic reticulum. Mellgren et al. (2015) concluded that export of truncated decorin appeared to be a prerequisite to produce the amorphous deposits of decorin typical of CSCD and that the Dcn 952delT knock-in mice are not a suitable model for CSCD. </p>
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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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<ol>
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<li>
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<p class="mim-text-font">
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Bredrup, C., Knappskog, P. M., Majewski, J., Rodahl, E., Boman, H.
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<strong>Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene.</strong>
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Invest. Ophthal. Vis. Sci. 46: 420-426, 2005.
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[PubMed: 15671264]
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[Full Text: https://doi.org/10.1167/iovs.04-0804]
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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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Desvignes, P., Vigo, (NI).
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<strong>A case of corneal and parenchymal dystrophy of dominant type.</strong>
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Bull. Soc. Ophtal. Franc. 4: 220-225, 1955.
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[PubMed: 14378991]
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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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Jing, Y., Kumar, P. R., Zhu, L., Edward, D. P., Tao, S., Wang, L., Chuck, R., Zhang, C.
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<strong>Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy.</strong>
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Cornea 33: 288-293, 2014.
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[PubMed: 24413633]
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[Full Text: https://doi.org/10.1097/ICO.0000000000000055]
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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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Kim, J., Ko, J. M., Lee, I., Kim, J. Y., Kim, M. J., Tchah, H.
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<strong>A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy.</strong>
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Cornea 30: 1473-1477, 2011.
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[PubMed: 21993463]
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[Full Text: https://doi.org/10.1097/ICO.0b013e3182137788]
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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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Mellgren, A. E. C., Bruland, O., Vedeler, A., Saraste, J., Schonheit, J., Bredrup, C., Knappskog, P. M., Rodahl, E.
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<strong>Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin.</strong>
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Invest. Ophthal. Vis. Sci. 56: 2909-2915, 2015.
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[PubMed: 26029887]
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[Full Text: https://doi.org/10.1167/iovs.14-16014]
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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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Odland, M.
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<strong>Dystrophia corneae parenchymatosa congenita: a clinical, morphological and histochemical examination.</strong>
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Acta Ophthal. (Copenh) 46: 477-485, 1968.
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[PubMed: 5304426]
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[Full Text: https://doi.org/10.1111/j.1755-3768.1968.tb02832.x]
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</p>
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</li>
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<p class="mim-text-font">
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Pouliquen, Y., Lacombe, E., Schreinzer, C., Giraud, J. P., Savoldelli, M.
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<strong>La dystrophie congenitale hereditaire du stroma corneen de Turpin.</strong>
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J. Franc. Ophtal. 2: 115-125, 1979.
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[PubMed: 312637]
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</p>
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Rodahl, E., Van Ginderdeuren, R., Knappskog, P. M., Bredrup, C., Boman, H.
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<strong>A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.</strong>
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Am. J. Ophthal. 142: 520-521, 2006.
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[PubMed: 16935612]
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[Full Text: https://doi.org/10.1016/j.ajo.2006.03.064]
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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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Turpin, R., Tisserand, M., Serane, J.
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<strong>Opacites corneennes hereditaires et congenitales reparties sur trois generations et atteignant deux jumelles monozygotes.</strong>
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Arch. Ophtal. (Paris) 3: 109-111, 1939.
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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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Van Ginderdeuren, R., De Vos, R., Casteels, I., Foets, B.
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<strong>Report of a new family with dominant congenital heredity stromal dystrophy of the cornea.</strong>
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Cornea 21: 118-120, 2002.
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[PubMed: 11805522]
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[Full Text: https://doi.org/10.1097/00003226-200201000-00025]
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<p class="mim-text-font">
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Witschel, H., Fine, B. S., Grutzner, P., McTigue, J. W.
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<strong>Congenital hereditary stromal dystrophy of the cornea.</strong>
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Arch. Ophthal. 96: 1043-1051, 1978.
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[PubMed: 350201]
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[Full Text: https://doi.org/10.1001/archopht.1978.03910050563015]
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Jane Kelly - updated : 09/14/2015<br>Marla J. F. O'Neill - updated : 3/31/2014<br>Anne M. Stumpf - updated : 4/13/2006
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Jane Kelly : 4/13/2006
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carol : 03/21/2023<br>carol : 09/14/2015<br>carol : 3/31/2014<br>mcolton : 3/31/2014<br>carol : 6/8/2012<br>carol : 8/13/2007<br>alopez : 4/13/2006
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