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Entry
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- #210370 - BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY; BCD
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- OMIM
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<p>
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<span class="h4">#210370</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/210370"><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="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<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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</a>
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</h4>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</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 id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY" 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=10464&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/NBK91457/" 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/825" 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/bietti-crystalline-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=210370[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=41751" 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:0050664" 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/210370" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050664" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span 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> 312927001<br />
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<strong>ORPHA:</strong> 41751<br />
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<strong>DO:</strong> 0050664<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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210370
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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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BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY; BCD
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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>
|
|
<span class="mim-font">
|
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BIETTI CRYSTALLINE DYSTROPHY<br />
|
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BIETTI TAPETORETINAL DEGENERATION WITH MARGINAL 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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<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">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</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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</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/4/724?start=-3&limit=10&highlight=724">
|
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4q35.1-q35.2
|
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</a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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Bietti crystalline corneoretinal dystrophy
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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/210370"> 210370 </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 recessive">AR</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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CYP4V2
|
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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/608614"> 608614 </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/210370" 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">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/210370" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/210370" 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 recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
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<strong> HEAD & NECK </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<em> Eyes </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- High myopia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34187009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34187009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271183&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271183</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011003</a>]</span><br /> -
|
|
Night blindness, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4024818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4024818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007675" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007675</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65194006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65194006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.6</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/368.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.60</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000662" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000662</a>]</span><br /> -
|
|
Decreased visual acuity, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000529" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000529</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000529" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000529</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13164000</a>]</span><br /> -
|
|
Central or paracentral scotoma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231258&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231258</a>]</span><br /> -
|
|
Visual field constriction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1151008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1151008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235095&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235095</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001133</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001133</a>]</span><br /> -
|
|
Thinning of cornea (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/423459005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">423459005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1096274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1096274</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100689</a>]</span><br /> -
|
|
Crystalline corneal deposits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1096610&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1096610</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000531" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000531</a>]</span><br /> -
|
|
Complex lipid inclusions in corneal and conjunctival fibroblasts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231256&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231256</a>]</span><br /> -
|
|
Marginal corneal dystrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4024779&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4024779</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007880" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007880</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007880" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007880</a>]</span><br /> -
|
|
Retinal degeneration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95695004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95695004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035304</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000546</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000546</a>]</span><br /> -
|
|
Glistening intraretinal fundal dots <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231255</a>]</span><br /> -
|
|
Attenuated retinal vessels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151109</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007843" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007843</a>]</span><br /> -
|
|
Choroidal vessel sclerosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247199007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247199007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/406446000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">406446000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H31.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H31.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H31.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H31.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/363.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">363.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/363.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">363.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344297&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344297</a>]</span><br /> -
|
|
Peripheral pigment deposits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4014686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4014686</a>]</span><br /> -
|
|
Severely reduced to nonrecordable electroretinograms <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231254&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231254</a>]</span><br />
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|
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</span>
|
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> HEMATOLOGY </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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|
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- Lipid inclusions in lymphocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231253&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231253</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </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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|
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- Onset of symptoms in second to third decades of life<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </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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- Caused by mutation in the cytochrome P450, family 4, subfamily V, polypeptide-2 gene (CYP4V2, <a href="/entry/608614#0001">608614.0001</a>)<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 class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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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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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<p>A number sign (#) is used with this entry because of evidence that Bietti crystalline corneoretinal dystrophy (BCD) is caused by homozygous or compound heterozygous mutation in the CYP4V2 gene (<a href="/entry/608614">608614</a>) on chromosome 4q35.</p>
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<p>Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by numerous tiny glistening yellow-white crystals at the posterior pole of the retina, associated with atrophy of the retinal pigment epithelium (RPE), pigment clumps, and choroidal sclerosis. Most cases have similar crystals at the corneoscleral limbus. The disorder is progressive; most patients develop decreased vision, nyctalopia, and paracentral scotomata between the second and fourth decades of life. Patients later develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the fifth or sixth decade of life. In a series of European patients diagnosed with nonsyndromic retinitis pigmentosa (RP; see <a href="/entry/268000">268000</a>), BCD accounted for approximately 3% of all nonsyndromic RP and 10% of nonsyndromic autosomal recessive RP. Histopathology shows advanced panchorioretinal atrophy, with crystals and complex lipid inclusions seen in choroidal fibroblasts, corneal keratocytes, and conjunctival and skin fibroblasts, as well as in circulating lymphocytes, suggesting that BCD may result from a systemic abnormality of lipid metabolism (summary by <a href="#11" class="mim-tip-reference" title="Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F. <strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong> Am. J. Hum. Genet. 74: 817-826, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/383228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15042513">Li et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15042513" 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>Crystalline retinopathy is a retinal degeneration characterized by innumerable glistening intraretinal dots scattered over the fundus, with degeneration of the retina, sclerosis of the choroidal vessels, progressive night blindness, and constriction of the visual fields. <a href="#8" class="mim-tip-reference" title="Hu, D.-N. <strong>Ophthalmic genetics in China.</strong> Ophthalmic Paediat. Genet. 2: 39-45, 1983."None>Hu (1983)</a> studied 35 patients (18 male, 17 female) in 25 families and established autosomal recessive inheritance. The average age of onset was 29.3 years.</p><p>This disorder was first reported by Bietti (<a href="#3" class="mim-tip-reference" title="Bietti, G. <strong>Ueber familiaeres Vorkommen von 'Retinitis punctata albescens' (verbunden mit 'Dystrophia marginalis cristallinea corneae'), Glitzern des Glaskoerpers und anderen degenerativen Augenveraenderungen.</strong> Klin. Monatsbl. Augenheilkd. 99: 737-757, 1937."None>1937</a>, <a href="#2" class="mim-tip-reference" title="Bietti, G. B. <strong>Su alcune forme atipiche o rare di degenerazione retinica.</strong> Boll. Oculist. 16: 1159-1239, 1937."None>1937</a>) in 3 patients, 2 of whom were brothers. The fundus is similar to that of retinitis punctata albescens. <a href="#3" class="mim-tip-reference" title="Bietti, G. <strong>Ueber familiaeres Vorkommen von 'Retinitis punctata albescens' (verbunden mit 'Dystrophia marginalis cristallinea corneae'), Glitzern des Glaskoerpers und anderen degenerativen Augenveraenderungen.</strong> Klin. Monatsbl. Augenheilkd. 99: 737-757, 1937."None>Bietti (1937)</a> noted crystalline corneal deposits in his cases, and <a href="#15" class="mim-tip-reference" title="Welch, R. B. <strong>Bietti's tapetoretinal degeneration with marginal corneal dystrophy: crystalline retinopathy.</strong> Trans. Am. Ophthal. Soc. 75: 164-179, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/306693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">306693</a>]" pmid="306693">Welch (1977)</a> described associated 'marginal corneal dystrophy.' Bietti dystrophy is a useful designation because of the involvement of both the cornea and the fundus. The 2 brothers originally described by <a href="#3" class="mim-tip-reference" title="Bietti, G. <strong>Ueber familiaeres Vorkommen von 'Retinitis punctata albescens' (verbunden mit 'Dystrophia marginalis cristallinea corneae'), Glitzern des Glaskoerpers und anderen degenerativen Augenveraenderungen.</strong> Klin. Monatsbl. Augenheilkd. 99: 737-757, 1937."None>Bietti (1937)</a> were reexamined by <a href="#1" class="mim-tip-reference" title="Bagolini, B., Ioli-Spada, G. <strong>Bietti's tapetoretinal degeneration with marginal corneal dystrophy.</strong> Am. J. Ophthal. 65: 53-60, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5299874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5299874</a>] [<a href="https://doi.org/10.1016/0002-9394(68)91028-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5299874">Bagolini and Ioli-Spada (1968)</a>. Both had suffered a marked decline in central vision and a contraction of visual field. The corneal dystrophy was unchanged but the corneal retinal degeneration had advanced, although the number of crystalline deposits had decreased. The discs were slightly pale and the retinal vessels were narrowed. <a href="#8" class="mim-tip-reference" title="Hu, D.-N. <strong>Ophthalmic genetics in China.</strong> Ophthalmic Paediat. Genet. 2: 39-45, 1983."None>Hu (1983)</a> did not observe corneal changes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5299874+306693" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Harrison, R. J., Acheson, R. R., Dean-Hart, J. C. <strong>Bietti's tapetoretinal degeneration with marginal corneal dystrophy (crystalline retinopathy): case report.</strong> Brit. J. Ophthal. 71: 220-223, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3493804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3493804</a>] [<a href="https://doi.org/10.1136/bjo.71.3.220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3493804">Harrison et al. (1987)</a> described the first British case. <a href="#16" class="mim-tip-reference" title="Wilson, D. J., Weleber, R. G., Klein, M. L., Welch, R. B., Green, W. R. <strong>Bietti's crystalline dystrophy: a clinicopathologic correlative study.</strong> Arch. Ophthal. 107: 213-221, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2783846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2783846</a>] [<a href="https://doi.org/10.1001/archopht.1989.01070010219026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2783846">Wilson et al. (1989)</a> described 3 patients, including 2 brothers. Corneal biopsy specimens demonstrated crystals resembling cholesterol or cholesterol ester and complex lipid inclusions in corneal and conjunctival fibroblasts. Similar inclusions were present in circulating lymphocytes, suggesting that Bietti crystalline corneoretinal dystrophy may be a systemic abnormality of lipid metabolism. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2783846+3493804" 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="#12" class="mim-tip-reference" title="Lin, J., Nishiguchi, K. M., Nakamura, M., Dryja, T. P., Berson, E. L., Miyake, Y. <strong>Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.</strong> J. Med. Genet. 42: e38, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15937078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15937078</a>] [<a href="https://doi.org/10.1136/jmg.2004.029066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15937078">Lin et al. (2005)</a> studied 11 unrelated patients with BCD, including 1 Chinese, 2 Middle Eastern, and 8 Japanese individuals, all carrying biallelic mutations in the CYP4V2 gene (see MOLECULAR GENETICS). Seven patients reported night blindness. Visual acuities ranged from normal to severely reduced. Slit-lamp examination revealed peripheral corneal crystalline deposits in 8 patients. Goldmann kinetic visual fields showed a central, paracentral, or ring scotoma in the patients. All had characteristic numerous small retinal crystalline deposits concentrated in the posterior pole. There were varying degrees of retinal pigment epithelium atrophy and attenuation of the choriocapillaris at the posterior pole; these abnormalities sometimes extended to the midperiphery. Full-field electroretinography (ERG) showed variable degrees of cone and rod function, ranging from normal to severely reduced, even among patients carrying the same mutation. <a href="#12" class="mim-tip-reference" title="Lin, J., Nishiguchi, K. M., Nakamura, M., Dryja, T. P., Berson, E. L., Miyake, Y. <strong>Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.</strong> J. Med. Genet. 42: e38, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15937078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15937078</a>] [<a href="https://doi.org/10.1136/jmg.2004.029066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15937078">Lin et al. (2005)</a> suggested that environmental or additional genetic factors might influence the course of the retinal disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15937078" 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="Wang, Y., Guo, L., Cai, S.-P, Dai, M., Yang, Q., Yu, W., Yan, N., Zhou, X., Fu, J., Guo, X., Han, P., Wang, J., Liu, X. <strong>Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.</strong> PLoS One 7: e33673, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22693542[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/10.1371/journal.pone.0033673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22693542">Wang et al. (2012)</a> examined 22 members of a 4-generation Chinese family in which 4 sisters had congenital cataract, high myopia, and thin corneas, as well as retinal findings consistent with retinitis pigmentosa. All 4 sisters reported high myopia from about 10 years of age, with visual acuity decreasing progressively to only light perception by the sixth decade of life. Funduscopic examination and fluorescein angiography revealed peripheral pigmentation, retinal choroidal atrophy, and retinal vascular attenuation, and there was retinal atrophy on optical coherence tomography (OCT). Electroretinography demonstrated no detectable cone or rod responses. Punctate opacities of the lens were seen under slit-lamp examination, and the patients' corneas were thinner than those of unaffected members of the family. In addition, B-scan ultrasonography showed posterior scleral staphyloma, indicating high myopia. <a href="#14" class="mim-tip-reference" title="Wang, Y., Guo, L., Cai, S.-P, Dai, M., Yang, Q., Yu, W., Yan, N., Zhou, X., Fu, J., Guo, X., Han, P., Wang, J., Liu, X. <strong>Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.</strong> PLoS One 7: e33673, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22693542[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/10.1371/journal.pone.0033673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22693542">Wang et al. (2012)</a> stated that they did not observe crystalline deposits in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22693542" 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 BCD in the families reported by <a href="#11" class="mim-tip-reference" title="Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F. <strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong> Am. J. Hum. Genet. 74: 817-826, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/383228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15042513">Li et al. (2004)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15042513" 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="#13" class="mim-tip-reference" title="Mataftsi, A., Zografos, L., Milla, E., Secretan, M., Munier, F. L. <strong>Bietti's crystalline corneoretinal dystrophy: a cross-sectional study.</strong> Retina 24: 416-426, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15187665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15187665</a>] [<a href="https://doi.org/10.1097/00006982-200406000-00013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15187665">Mataftsi et al. (2004)</a> examined 214 consecutive index patients diagnosed with retinitis pigmentosa or related chorioretinal disorders, and found an estimated BCD prevalence of 10% among nonsyndromic autosomal recessive RP patients (3 of 31 patients). The authors stated that BCD is a rare and underdiagnosed form of RP, noting that the characteristic marginal crystalline keratopathy, which consists of refringent subepithelial limbal deposits smaller than 15 micrometers, can easily be missed even by an experienced ophthalmologist. In their series of patients, the percentage of peripheral lymphocytes containing crystals tended to increase with age, and <a href="#13" class="mim-tip-reference" title="Mataftsi, A., Zografos, L., Milla, E., Secretan, M., Munier, F. L. <strong>Bietti's crystalline corneoretinal dystrophy: a cross-sectional study.</strong> Retina 24: 416-426, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15187665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15187665</a>] [<a href="https://doi.org/10.1097/00006982-200406000-00013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15187665">Mataftsi et al. (2004)</a> suggested that this might serve as a diagnostic criterion for BCD in advanced cases, which are sometimes indistinguishable from choroideremia (see <a href="/entry/303100">303100</a>) or other conditions involving diffuse choroidal sclerosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15187665" 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>Although patients with BCD have been reported from most parts of the world, the disorder appears to be most common in East Asia, especially in Chinese and Japanese populations. From the frequency of first-cousin parents in his series of patients with BCD, <a href="#8" class="mim-tip-reference" title="Hu, D.-N. <strong>Ophthalmic genetics in China.</strong> Ophthalmic Paediat. Genet. 2: 39-45, 1983."None>Hu (1983)</a> estimated the frequency of the BCD gene in China to be 0.005. He pointed out that 3 of the 21 cases reported in the West (<a href="#5" class="mim-tip-reference" title="Grizzard, W. S., Deutman, A. F., Nijhuis, F., Aan de Kerk, A. <strong>Crystalline retinopathy.</strong> Am. J. Ophthal. 86: 81-88, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/677237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">677237</a>] [<a href="https://doi.org/10.1016/0002-9394(78)90019-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="677237">Grizzard et al., 1978</a>; <a href="#15" class="mim-tip-reference" title="Welch, R. B. <strong>Bietti's tapetoretinal degeneration with marginal corneal dystrophy: crystalline retinopathy.</strong> Trans. Am. Ophthal. Soc. 75: 164-179, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/306693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">306693</a>]" pmid="306693">Welch, 1977</a>) were in patients of Oriental extraction. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=306693+677237" 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 number of findings point to the existence of systemic abnormalities of lipid metabolism in BCD (<a href="#10" class="mim-tip-reference" title="Lee, J., Jiao, X., Hejtmancik, J. F., Kaiser-Kupfer, M., Chader, G. J. <strong>Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD).</strong> Molec. Genet. Metab. 65: 143-154, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9787106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9787106</a>] [<a href="https://doi.org/10.1006/mgme.1998.2723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9787106">Lee et al., 1998</a>). Abnormally high levels of triglycerides and cholesterol storage are seen in cultured cells from patients with BCD, whereas metabolism of labeled fatty acid precursors is decreased in BCD. <a href="#10" class="mim-tip-reference" title="Lee, J., Jiao, X., Hejtmancik, J. F., Kaiser-Kupfer, M., Chader, G. J. <strong>Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD).</strong> Molec. Genet. Metab. 65: 143-154, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9787106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9787106</a>] [<a href="https://doi.org/10.1006/mgme.1998.2723" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9787106">Lee et al. (1998)</a> showed that lymphocytes from patients with BCD lack 2 fatty acid-binding activities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9787106" 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 study of 10 families with BCD, <a href="#9" class="mim-tip-reference" title="Jiao, X., Munier, F. L., Iwata, F., Hayakawa, M., Kanai, A., Lee, J., Schorderet, D. F., Chen, M.-S., Kaiser-Kupfer, M., Hejtmancik, J. F. <strong>Genetic linkage of Bietti crystallin (sic) corneoretinal dystrophy to chromosome 4q35.</strong> Am. J. Hum. Genet. 67: 1309-1313, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11001583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11001583</a>] [<a href="https://doi.org/10.1016/S0002-9297(07)62960-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11001583">Jiao et al. (2000)</a> reported linkage of the disease to chromosome 4q35-qter (maximum lod = 5.31 with D4S2299 at theta = zero). Using haplotype and linkage analyses, <a href="#11" class="mim-tip-reference" title="Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F. <strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong> Am. J. Hum. Genet. 74: 817-826, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/383228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15042513">Li et al. (2004)</a> refined the critical region for the BCD locus to a region of 4q35.1 flanked centromerically by D4S2924. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11001583+15042513" 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 23 of 25 unrelated patients with BCD, <a href="#11" class="mim-tip-reference" title="Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F. <strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong> Am. J. Hum. Genet. 74: 817-826, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/383228" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15042513">Li et al. (2004)</a> identified 13 mutations in the CYP4V2 gene (see, e.g., <a href="/entry/608614#0001">608614.0001</a>-<a href="/entry/608614#0006">608614.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15042513" 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="#12" class="mim-tip-reference" title="Lin, J., Nishiguchi, K. M., Nakamura, M., Dryja, T. P., Berson, E. L., Miyake, Y. <strong>Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.</strong> J. Med. Genet. 42: e38, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15937078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15937078</a>] [<a href="https://doi.org/10.1136/jmg.2004.029066" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15937078">Lin et al. (2005)</a> screened the CYP4V2 gene in 11 unrelated patients with BCD, including 1 Chinese, 2 Middle Eastern, and 8 Japanese individuals, and identified homozygous or compound heterozygous mutations in all of them (see, e.g., <a href="/entry/608614#0006">608614.0006</a>-<a href="/entry/608614#0008">608614.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15937078" 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 4 Chinese sisters with congenital cataract, high myopia, thin corneas, and retinal findings consistent with RP, who were negative for mutation in 8 genes associated with autosomal recessive RP, <a href="#14" class="mim-tip-reference" title="Wang, Y., Guo, L., Cai, S.-P, Dai, M., Yang, Q., Yu, W., Yan, N., Zhou, X., Fu, J., Guo, X., Han, P., Wang, J., Liu, X. <strong>Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.</strong> PLoS One 7: e33673, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22693542[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/10.1371/journal.pone.0033673" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22693542">Wang et al. (2012)</a> performed exome sequencing and identified compound heterozygosity for 2 mutations in the CYP4V2 gene (<a href="/entry/608614#0005">608614.0005</a>-<a href="/entry/608614#0006">608614.0006</a>) that segregated fully with disease in the family. Both mutations had previously been identified in homozygosity or compound heterozygosity in patients with BCD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22693542" 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="Fu, Q., Wang, F., Wang, H., Xu, F., Zaneveld, J. E., Ren, H., Keser, V., Lopez, I., Tuan, H.-F., Salvo, J. S., Wang, X., Zhao, L., Wang, K., Li, Y., Koenekoop, R. K., Chen, R., Sui, R. <strong>Next-generation sequencing-based molecular diagnosis of a Chinese cohort with autosomal recessive retinitis pigmentosa.</strong> Invest. Ophthal. Vis. Sci. 54: 4158-4166, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23661369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23661369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23661369[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/10.1167/iovs.13-11672" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23661369">Fu et al. (2013)</a> screened 31 unrelated Chinese families with a diagnosis of autosomal recessive RP for mutations in 163 retinal disease genes, and identified compound heterozygosity for mutations in the CYP4V2 gene (see <a href="/entry/608614#0005">608614.0005</a>-<a href="/entry/608614#0006">608614.0006</a> and <a href="/entry/608614#0009">608614.0009</a>) in 2 probands. Reexamination of 1 proband was not possible because of dense cataracts in both eyes; however, reevaluation of affected individuals in the other family revealed yellowish shiny crystals in the proband's younger sister, although none were observed in the proband. <a href="#4" class="mim-tip-reference" title="Fu, Q., Wang, F., Wang, H., Xu, F., Zaneveld, J. E., Ren, H., Keser, V., Lopez, I., Tuan, H.-F., Salvo, J. S., Wang, X., Zhao, L., Wang, K., Li, Y., Koenekoop, R. K., Chen, R., Sui, R. <strong>Next-generation sequencing-based molecular diagnosis of a Chinese cohort with autosomal recessive retinitis pigmentosa.</strong> Invest. Ophthal. Vis. Sci. 54: 4158-4166, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23661369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23661369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23661369[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/10.1167/iovs.13-11672" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23661369">Fu et al. (2013)</a> stated that in their experience, the crystals seen in BCD may vanish as patients age and the disease progresses; thus, they clinically rediagnosed the patients in the latter family with BCD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23661369" 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="#Hayasaka1984" class="mim-tip-reference" title="Hayasaka, S., Okuyama, S. <strong>Crystalline retinopathy.</strong> Retina 4: 177-181, 1984.">Hayasaka and Okuyama (1984)</a>
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Bagolini, B., Ioli-Spada, G.
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<strong>Bietti's tapetoretinal degeneration with marginal corneal dystrophy.</strong>
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Am. J. Ophthal. 65: 53-60, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5299874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5299874</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5299874" 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(68)91028-3" target="_blank">Full Text</a>]
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<strong>Su alcune forme atipiche o rare di degenerazione retinica.</strong>
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Boll. Oculist. 16: 1159-1239, 1937.
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<strong>Ueber familiaeres Vorkommen von 'Retinitis punctata albescens' (verbunden mit 'Dystrophia marginalis cristallinea corneae'), Glitzern des Glaskoerpers und anderen degenerativen Augenveraenderungen.</strong>
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Klin. Monatsbl. Augenheilkd. 99: 737-757, 1937.
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Fu, Q., Wang, F., Wang, H., Xu, F., Zaneveld, J. E., Ren, H., Keser, V., Lopez, I., Tuan, H.-F., Salvo, J. S., Wang, X., Zhao, L., Wang, K., Li, Y., Koenekoop, R. K., Chen, R., Sui, R.
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<strong>Next-generation sequencing-based molecular diagnosis of a Chinese cohort with autosomal recessive retinitis pigmentosa.</strong>
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Invest. Ophthal. Vis. Sci. 54: 4158-4166, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23661369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23661369</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23661369[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=23661369" 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.13-11672" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Grizzard1978" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Grizzard, W. S., Deutman, A. F., Nijhuis, F., Aan de Kerk, A.
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<strong>Crystalline retinopathy.</strong>
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Am. J. Ophthal. 86: 81-88, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/677237/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">677237</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=677237" 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(78)90019-3" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Harrison1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Harrison, R. J., Acheson, R. R., Dean-Hart, J. C.
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<strong>Bietti's tapetoretinal degeneration with marginal corneal dystrophy (crystalline retinopathy): case report.</strong>
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Brit. J. Ophthal. 71: 220-223, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3493804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3493804</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3493804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/bjo.71.3.220" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Hayasaka1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hayasaka, S., Okuyama, S.
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<strong>Crystalline retinopathy.</strong>
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Retina 4: 177-181, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6494635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6494635</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6494635" 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/10.1097/00006982-198400430-00009" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Hu1983" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hu, D.-N.
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<strong>Ophthalmic genetics in China.</strong>
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Ophthalmic Paediat. Genet. 2: 39-45, 1983.
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<a id="9" class="mim-anchor"></a>
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<a id="Jiao2000" class="mim-anchor"></a>
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<div class="">
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Jiao, X., Munier, F. L., Iwata, F., Hayakawa, M., Kanai, A., Lee, J., Schorderet, D. F., Chen, M.-S., Kaiser-Kupfer, M., Hejtmancik, J. F.
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<strong>Genetic linkage of Bietti crystallin (sic) corneoretinal dystrophy to chromosome 4q35.</strong>
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Am. J. Hum. Genet. 67: 1309-1313, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11001583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11001583</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11001583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/S0002-9297(07)62960-7" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Lee1998" class="mim-anchor"></a>
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<p class="mim-text-font">
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Lee, J., Jiao, X., Hejtmancik, J. F., Kaiser-Kupfer, M., Chader, G. J.
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<strong>Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD).</strong>
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Molec. Genet. Metab. 65: 143-154, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9787106/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9787106</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9787106" 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/10.1006/mgme.1998.2723" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Li2004" class="mim-anchor"></a>
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Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F.
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<strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong>
|
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Am. J. Hum. Genet. 74: 817-826, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15042513/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15042513</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15042513[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=15042513" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/383228" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
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<a id="Lin2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lin, J., Nishiguchi, K. M., Nakamura, M., Dryja, T. P., Berson, E. L., Miyake, Y.
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<strong>Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.</strong>
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J. Med. Genet. 42: e38, 2005. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15937078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15937078</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15937078" 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.2004.029066" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
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<a id="Mataftsi2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mataftsi, A., Zografos, L., Milla, E., Secretan, M., Munier, F. L.
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<strong>Bietti's crystalline corneoretinal dystrophy: a cross-sectional study.</strong>
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Retina 24: 416-426, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15187665/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15187665</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15187665" 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/10.1097/00006982-200406000-00013" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Wang2012" class="mim-anchor"></a>
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Wang, Y., Guo, L., Cai, S.-P, Dai, M., Yang, Q., Yu, W., Yan, N., Zhou, X., Fu, J., Guo, X., Han, P., Wang, J., Liu, X.
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<strong>Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.</strong>
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PLoS One 7: e33673, 2012. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22693542/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22693542</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22693542[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=22693542" 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/10.1371/journal.pone.0033673" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
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<a id="Welch1977" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Welch, R. B.
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<strong>Bietti's tapetoretinal degeneration with marginal corneal dystrophy: crystalline retinopathy.</strong>
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Trans. Am. Ophthal. Soc. 75: 164-179, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/306693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">306693</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=306693" 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="16" class="mim-anchor"></a>
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<a id="Wilson1989" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilson, D. J., Weleber, R. G., Klein, M. L., Welch, R. B., Green, W. R.
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<strong>Bietti's crystalline dystrophy: a clinicopathologic correlative study.</strong>
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Arch. Ophthal. 107: 213-221, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2783846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2783846</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2783846" 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.1989.01070010219026" target="_blank">Full Text</a>]
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<br />
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </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 : 9/25/2015
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Victor A. McKusick - updated : 4/23/2004<br>Victor A. McKusick - updated : 11/21/2000
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Creation Date:
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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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Victor A. McKusick : 6/3/1986
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carol : 02/07/2024
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<span class="mim-text-font">
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alopez : 02/06/2024<br>alopez : 11/01/2016<br>carol : 09/26/2015<br>carol : 9/25/2015<br>terry : 11/16/2010<br>terry : 10/13/2010<br>tkritzer : 4/28/2004<br>terry : 4/23/2004<br>alopez : 3/18/2004<br>alopez : 12/17/2001<br>carol : 11/27/2000<br>terry : 11/21/2000<br>alopez : 6/10/1997<br>warfield : 3/22/1994<br>mimadm : 2/19/1994<br>supermim : 3/16/1992<br>carol : 3/7/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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<strong>#</strong> 210370
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<h3>
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BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY; BCD
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BIETTI CRYSTALLINE DYSTROPHY<br />
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BIETTI TAPETORETINAL DEGENERATION WITH MARGINAL CORNEAL DYSTROPHY
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 312927001;
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<strong>ORPHA:</strong> 41751;
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<strong>DO:</strong> 0050664;
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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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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
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<span class="mim-font">
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4q35.1-q35.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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Bietti crystalline corneoretinal dystrophy
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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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210370
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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 recessive
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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 class="mim-font">
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CYP4V2
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</span>
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</td>
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<span class="mim-font">
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608614
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<span class="mim-font">
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<strong>TEXT</strong>
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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 Bietti crystalline corneoretinal dystrophy (BCD) is caused by homozygous or compound heterozygous mutation in the CYP4V2 gene (608614) on chromosome 4q35.</p>
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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>Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy characterized by numerous tiny glistening yellow-white crystals at the posterior pole of the retina, associated with atrophy of the retinal pigment epithelium (RPE), pigment clumps, and choroidal sclerosis. Most cases have similar crystals at the corneoscleral limbus. The disorder is progressive; most patients develop decreased vision, nyctalopia, and paracentral scotomata between the second and fourth decades of life. Patients later develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the fifth or sixth decade of life. In a series of European patients diagnosed with nonsyndromic retinitis pigmentosa (RP; see 268000), BCD accounted for approximately 3% of all nonsyndromic RP and 10% of nonsyndromic autosomal recessive RP. Histopathology shows advanced panchorioretinal atrophy, with crystals and complex lipid inclusions seen in choroidal fibroblasts, corneal keratocytes, and conjunctival and skin fibroblasts, as well as in circulating lymphocytes, suggesting that BCD may result from a systemic abnormality of lipid metabolism (summary by Li et al., 2004). </p>
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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>Crystalline retinopathy is a retinal degeneration characterized by innumerable glistening intraretinal dots scattered over the fundus, with degeneration of the retina, sclerosis of the choroidal vessels, progressive night blindness, and constriction of the visual fields. Hu (1983) studied 35 patients (18 male, 17 female) in 25 families and established autosomal recessive inheritance. The average age of onset was 29.3 years.</p><p>This disorder was first reported by Bietti (1937, 1937) in 3 patients, 2 of whom were brothers. The fundus is similar to that of retinitis punctata albescens. Bietti (1937) noted crystalline corneal deposits in his cases, and Welch (1977) described associated 'marginal corneal dystrophy.' Bietti dystrophy is a useful designation because of the involvement of both the cornea and the fundus. The 2 brothers originally described by Bietti (1937) were reexamined by Bagolini and Ioli-Spada (1968). Both had suffered a marked decline in central vision and a contraction of visual field. The corneal dystrophy was unchanged but the corneal retinal degeneration had advanced, although the number of crystalline deposits had decreased. The discs were slightly pale and the retinal vessels were narrowed. Hu (1983) did not observe corneal changes. </p><p>Harrison et al. (1987) described the first British case. Wilson et al. (1989) described 3 patients, including 2 brothers. Corneal biopsy specimens demonstrated crystals resembling cholesterol or cholesterol ester and complex lipid inclusions in corneal and conjunctival fibroblasts. Similar inclusions were present in circulating lymphocytes, suggesting that Bietti crystalline corneoretinal dystrophy may be a systemic abnormality of lipid metabolism. </p><p>Lin et al. (2005) studied 11 unrelated patients with BCD, including 1 Chinese, 2 Middle Eastern, and 8 Japanese individuals, all carrying biallelic mutations in the CYP4V2 gene (see MOLECULAR GENETICS). Seven patients reported night blindness. Visual acuities ranged from normal to severely reduced. Slit-lamp examination revealed peripheral corneal crystalline deposits in 8 patients. Goldmann kinetic visual fields showed a central, paracentral, or ring scotoma in the patients. All had characteristic numerous small retinal crystalline deposits concentrated in the posterior pole. There were varying degrees of retinal pigment epithelium atrophy and attenuation of the choriocapillaris at the posterior pole; these abnormalities sometimes extended to the midperiphery. Full-field electroretinography (ERG) showed variable degrees of cone and rod function, ranging from normal to severely reduced, even among patients carrying the same mutation. Lin et al. (2005) suggested that environmental or additional genetic factors might influence the course of the retinal disease. </p><p>Wang et al. (2012) examined 22 members of a 4-generation Chinese family in which 4 sisters had congenital cataract, high myopia, and thin corneas, as well as retinal findings consistent with retinitis pigmentosa. All 4 sisters reported high myopia from about 10 years of age, with visual acuity decreasing progressively to only light perception by the sixth decade of life. Funduscopic examination and fluorescein angiography revealed peripheral pigmentation, retinal choroidal atrophy, and retinal vascular attenuation, and there was retinal atrophy on optical coherence tomography (OCT). Electroretinography demonstrated no detectable cone or rod responses. Punctate opacities of the lens were seen under slit-lamp examination, and the patients' corneas were thinner than those of unaffected members of the family. In addition, B-scan ultrasonography showed posterior scleral staphyloma, indicating high myopia. Wang et al. (2012) stated that they did not observe crystalline deposits in these patients. </p>
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</span>
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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 BCD in the families reported by Li et al. (2004) was consistent with autosomal recessive 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>Diagnosis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Mataftsi et al. (2004) examined 214 consecutive index patients diagnosed with retinitis pigmentosa or related chorioretinal disorders, and found an estimated BCD prevalence of 10% among nonsyndromic autosomal recessive RP patients (3 of 31 patients). The authors stated that BCD is a rare and underdiagnosed form of RP, noting that the characteristic marginal crystalline keratopathy, which consists of refringent subepithelial limbal deposits smaller than 15 micrometers, can easily be missed even by an experienced ophthalmologist. In their series of patients, the percentage of peripheral lymphocytes containing crystals tended to increase with age, and Mataftsi et al. (2004) suggested that this might serve as a diagnostic criterion for BCD in advanced cases, which are sometimes indistinguishable from choroideremia (see 303100) or other conditions involving diffuse choroidal sclerosis. </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>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Although patients with BCD have been reported from most parts of the world, the disorder appears to be most common in East Asia, especially in Chinese and Japanese populations. From the frequency of first-cousin parents in his series of patients with BCD, Hu (1983) estimated the frequency of the BCD gene in China to be 0.005. He pointed out that 3 of the 21 cases reported in the West (Grizzard et al., 1978; Welch, 1977) were in patients of Oriental extraction. </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>Biochemical 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>A number of findings point to the existence of systemic abnormalities of lipid metabolism in BCD (Lee et al., 1998). Abnormally high levels of triglycerides and cholesterol storage are seen in cultured cells from patients with BCD, whereas metabolism of labeled fatty acid precursors is decreased in BCD. Lee et al. (1998) showed that lymphocytes from patients with BCD lack 2 fatty acid-binding activities. </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>In a study of 10 families with BCD, Jiao et al. (2000) reported linkage of the disease to chromosome 4q35-qter (maximum lod = 5.31 with D4S2299 at theta = zero). Using haplotype and linkage analyses, Li et al. (2004) refined the critical region for the BCD locus to a region of 4q35.1 flanked centromerically by D4S2924. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 23 of 25 unrelated patients with BCD, Li et al. (2004) identified 13 mutations in the CYP4V2 gene (see, e.g., 608614.0001-608614.0006). </p><p>Lin et al. (2005) screened the CYP4V2 gene in 11 unrelated patients with BCD, including 1 Chinese, 2 Middle Eastern, and 8 Japanese individuals, and identified homozygous or compound heterozygous mutations in all of them (see, e.g., 608614.0006-608614.0008). </p><p>In 4 Chinese sisters with congenital cataract, high myopia, thin corneas, and retinal findings consistent with RP, who were negative for mutation in 8 genes associated with autosomal recessive RP, Wang et al. (2012) performed exome sequencing and identified compound heterozygosity for 2 mutations in the CYP4V2 gene (608614.0005-608614.0006) that segregated fully with disease in the family. Both mutations had previously been identified in homozygosity or compound heterozygosity in patients with BCD. </p><p>Fu et al. (2013) screened 31 unrelated Chinese families with a diagnosis of autosomal recessive RP for mutations in 163 retinal disease genes, and identified compound heterozygosity for mutations in the CYP4V2 gene (see 608614.0005-608614.0006 and 608614.0009) in 2 probands. Reexamination of 1 proband was not possible because of dense cataracts in both eyes; however, reevaluation of affected individuals in the other family revealed yellowish shiny crystals in the proband's younger sister, although none were observed in the proband. Fu et al. (2013) stated that in their experience, the crystals seen in BCD may vanish as patients age and the disease progresses; thus, they clinically rediagnosed the patients in the latter family with BCD. </p>
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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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<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">
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Hayasaka and Okuyama (1984)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bagolini, B., Ioli-Spada, G.
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<strong>Bietti's tapetoretinal degeneration with marginal corneal dystrophy.</strong>
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Am. J. Ophthal. 65: 53-60, 1968.
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[PubMed: 5299874]
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[Full Text: https://doi.org/10.1016/0002-9394(68)91028-3]
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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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Bietti, G. B.
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<strong>Su alcune forme atipiche o rare di degenerazione retinica.</strong>
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Boll. Oculist. 16: 1159-1239, 1937.
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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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Bietti, G.
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<strong>Ueber familiaeres Vorkommen von 'Retinitis punctata albescens' (verbunden mit 'Dystrophia marginalis cristallinea corneae'), Glitzern des Glaskoerpers und anderen degenerativen Augenveraenderungen.</strong>
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Klin. Monatsbl. Augenheilkd. 99: 737-757, 1937.
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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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Fu, Q., Wang, F., Wang, H., Xu, F., Zaneveld, J. E., Ren, H., Keser, V., Lopez, I., Tuan, H.-F., Salvo, J. S., Wang, X., Zhao, L., Wang, K., Li, Y., Koenekoop, R. K., Chen, R., Sui, R.
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<strong>Next-generation sequencing-based molecular diagnosis of a Chinese cohort with autosomal recessive retinitis pigmentosa.</strong>
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Invest. Ophthal. Vis. Sci. 54: 4158-4166, 2013.
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[PubMed: 23661369]
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[Full Text: https://doi.org/10.1167/iovs.13-11672]
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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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Grizzard, W. S., Deutman, A. F., Nijhuis, F., Aan de Kerk, A.
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<strong>Crystalline retinopathy.</strong>
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Am. J. Ophthal. 86: 81-88, 1978.
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[PubMed: 677237]
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[Full Text: https://doi.org/10.1016/0002-9394(78)90019-3]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Harrison, R. J., Acheson, R. R., Dean-Hart, J. C.
|
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<strong>Bietti's tapetoretinal degeneration with marginal corneal dystrophy (crystalline retinopathy): case report.</strong>
|
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Brit. J. Ophthal. 71: 220-223, 1987.
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[PubMed: 3493804]
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[Full Text: https://doi.org/10.1136/bjo.71.3.220]
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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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Hayasaka, S., Okuyama, S.
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<strong>Crystalline retinopathy.</strong>
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Retina 4: 177-181, 1984.
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[PubMed: 6494635]
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[Full Text: https://doi.org/10.1097/00006982-198400430-00009]
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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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Hu, D.-N.
|
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<strong>Ophthalmic genetics in China.</strong>
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Ophthalmic Paediat. Genet. 2: 39-45, 1983.
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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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Jiao, X., Munier, F. L., Iwata, F., Hayakawa, M., Kanai, A., Lee, J., Schorderet, D. F., Chen, M.-S., Kaiser-Kupfer, M., Hejtmancik, J. F.
|
|
<strong>Genetic linkage of Bietti crystallin (sic) corneoretinal dystrophy to chromosome 4q35.</strong>
|
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Am. J. Hum. Genet. 67: 1309-1313, 2000.
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[PubMed: 11001583]
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[Full Text: https://doi.org/10.1016/S0002-9297(07)62960-7]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Lee, J., Jiao, X., Hejtmancik, J. F., Kaiser-Kupfer, M., Chader, G. J.
|
|
<strong>Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD).</strong>
|
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Molec. Genet. Metab. 65: 143-154, 1998.
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[PubMed: 9787106]
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[Full Text: https://doi.org/10.1006/mgme.1998.2723]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Li, A., Jiao, X., Munier, F. L., Schorderet, D. F., Yao, W., Iwata, F., Hayakawa, M., Kanai, A., Chen, M. S., Lewis, R. A., Heckenlively, J., Weleber, R. G., Traboulsi, E. I., Zhang, Q., Xiao, X., Kaiser-Kupfer, M., Sergeev, Y. V., Hejtmancik, J. F.
|
|
<strong>Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.</strong>
|
|
Am. J. Hum. Genet. 74: 817-826, 2004.
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[PubMed: 15042513]
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[Full Text: https://doi.org/10.1086/383228]
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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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Lin, J., Nishiguchi, K. M., Nakamura, M., Dryja, T. P., Berson, E. L., Miyake, Y.
|
|
<strong>Recessive mutations in the CYP4V2 gene in East Asian and Middle Eastern patients with Bietti crystalline corneoretinal dystrophy.</strong>
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J. Med. Genet. 42: e38, 2005. Note: Electronic Article.
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[PubMed: 15937078]
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[Full Text: https://doi.org/10.1136/jmg.2004.029066]
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Mataftsi, A., Zografos, L., Milla, E., Secretan, M., Munier, F. L.
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<strong>Bietti's crystalline corneoretinal dystrophy: a cross-sectional study.</strong>
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Retina 24: 416-426, 2004.
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[PubMed: 15187665]
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[Full Text: https://doi.org/10.1097/00006982-200406000-00013]
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Wang, Y., Guo, L., Cai, S.-P, Dai, M., Yang, Q., Yu, W., Yan, N., Zhou, X., Fu, J., Guo, X., Han, P., Wang, J., Liu, X.
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<strong>Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.</strong>
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PLoS One 7: e33673, 2012. Note: Electronic Article.
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[PubMed: 22693542]
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[Full Text: https://doi.org/10.1371/journal.pone.0033673]
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Welch, R. B.
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<strong>Bietti's tapetoretinal degeneration with marginal corneal dystrophy: crystalline retinopathy.</strong>
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Trans. Am. Ophthal. Soc. 75: 164-179, 1977.
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[PubMed: 306693]
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Wilson, D. J., Weleber, R. G., Klein, M. L., Welch, R. B., Green, W. R.
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<strong>Bietti's crystalline dystrophy: a clinicopathologic correlative study.</strong>
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Arch. Ophthal. 107: 213-221, 1989.
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[PubMed: 2783846]
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[Full Text: https://doi.org/10.1001/archopht.1989.01070010219026]
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Marla J. F. O'Neill - updated : 9/25/2015<br>Victor A. McKusick - updated : 4/23/2004<br>Victor A. McKusick - updated : 11/21/2000
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Victor A. McKusick : 6/3/1986
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