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Entry
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- #153700 - MACULAR DYSTROPHY, VITELLIFORM, 2; VMD2
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- OMIM
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<p>
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<span class="h4">#153700</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/153700"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS153840"> <strong>Phenotypic Series</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="#mapping">Mapping</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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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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</a>
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</span>
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</span>
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</div>
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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=MACULAR DYSTROPHY, VITELLIFORM" 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=4510&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/NBK1167/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9457" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=153700[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=1243" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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:0050661" 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/153700" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=001444,001553,001554" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050661" 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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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 763387005<br />
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<strong>ORPHA:</strong> 1243<br />
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<strong>DO:</strong> 0050661<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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153700
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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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MACULAR DYSTROPHY, VITELLIFORM, 2; VMD2
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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">
|
|
VITELLIFORM MACULAR DYSTROPHY, EARLY-ONSET<br />
|
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VITELLIFORM MACULAR DYSTROPHY, JUVENILE-ONSET<br />
|
|
BEST MACULAR DYSTROPHY; BMD<br />
|
|
MACULAR DEGENERATION, POLYMORPHIC VITELLINE<br />
|
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BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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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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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/11/467?start=-3&limit=10&highlight=467">
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11q12.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Macular dystrophy, vitelliform, 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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<a href="/entry/153700"> 153700 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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BEST1
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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/607854"> 607854 </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/153700" 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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<a href="/phenotypicSeries/PS153840" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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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/153700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/153700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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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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|
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- Decreased visual acuity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13164000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span><br /> -
|
|
Vitelliform ('egg-yolk') deposits, macular or multifocal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011677&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011677</a>]</span><br /> -
|
|
Abnormal accumulation of lipofuscin within and beneath the retinal Pigment epithelium (RPE) on optical coherence tomography (OCT) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011678&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011678</a>]</span><br /> -
|
|
Thickening and elevation of the outer retina-RPE-choroid complex on OCT <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011679&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011679</a>]</span><br /> -
|
|
Intraretinal and subretinal fluid in cystic spaces with splitting of retina on OCT <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011680&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011680</a>]</span><br /> -
|
|
Normal or reduced responses on electroretinography <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011681&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011681</a>]</span><br /> -
|
|
Low Arden ratio on electrooculography <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011682</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
|
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|
|
- Variable age of onset, from early childhood to seventh decade of life<br /> -
|
|
Some patients with vitelliform macular dystrophy are homozygous or compound heterozygous for mutations in BEST1, with their heterozygous relatives showing milder forms of eye disease<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>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
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|
|
- Caused by mutation in the bestrophin-1 gene (BEST1, <a href="/entry/607854#0001">607854.0001</a>)<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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|
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<div class="text-right">
|
|
<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 id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
|
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Macular dystrophy, vitelliform
|
|
- <a href="/phenotypicSeries/PS153840">PS153840</a>
|
|
- 5 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/507?start=-3&limit=10&highlight=507"> 3q12.3 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616152"> Macular dystrophy, vitelliform, 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616152"> 616152 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607056"> IMPG2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607056"> 607056 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/502?start=-3&limit=10&highlight=502"> 6p21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608161"> Macular dystrophy, vitelliform, 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608161"> 608161 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/179605"> PRPH2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/179605"> 179605 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/6/659?start=-3&limit=10&highlight=659"> 6q14.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616151"> Macular dystrophy, vitelliform, 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616151"> 616151 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602870"> IMPG1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602870"> 602870 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/467?start=-3&limit=10&highlight=467"> 11q12.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/153700"> Macular dystrophy, vitelliform, 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/153700"> 153700 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607854"> BEST1 </a>
|
|
</span>
|
|
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<a href="/entry/153840"> Macular dystrophy, vitelliform, 1 </a>
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<p>A number sign (#) is used with this entry because vitelliform macular dystrophy-2 (VMD2), also known as Best disease, is caused by heterozygous mutation in the bestrophin gene (BEST1; <a href="/entry/607854">607854</a>) on chromosome 11q12.</p>
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<p>Best vitelliform macular dystrophy is an early-onset autosomal dominant disorder characterized by large deposits of lipofuscin-like material in the subretinal space, which creates characteristic macular lesions resembling the yolk of an egg ('vitelliform'). Although the diagnosis of Best disease is often made during the childhood years, it is more frequently made much later and into the sixth decade of life. In addition, the typical egg yolk-like lesion is present only during a limited period in the natural evolution of the disease; later, the affected area becomes deeply and irregularly pigmented and a process called 'scrambling the egg' occurs, at which point the lesion may appear as a 'bull's eye.' The disorder is progressive and loss of vision may occur. A defining characteristic of Best disease is a light peak/dark trough ratio of the electrooculogram (EOG) of less than 1.5, without aberrations in the clinical electroretinogram (ERG). Even otherwise asymptomatic carriers of BEST1 mutations, as assessed by pedigree, will exhibit an altered EOG. Histopathologically, the disease has been shown to manifest as a generalized retinal pigment epithelium (RPE) abnormality associated with excessive lipofuscin accumulation, regions of geographic RPE atrophy, and deposition of abnormal fibrillar material beneath the RPE, similar to drusen. Occasional breaks in the Bruch membrane with accompanying neovascularization have also been reported, although Best disease is not noted for extensive choroidal neovascularization. Many of these features are also found in age-related macular degeneration (see <a href="/entry/603075">603075</a>) (summary by <a href="#6" class="mim-tip-reference" title="Braley, A. E. <strong>Dystrophy of the macula.</strong> Am. J. Ophthal. 61: 1-24, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5904376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5904376</a>] [<a href="https://doi.org/10.1016/0002-9394(66)90741-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5904376">Braley, 1966</a>; <a href="#53" class="mim-tip-reference" title="White, K., Marquardt, A., Weber, B. H. F. <strong>VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.</strong> Hum. Mutat. 15: 301-308, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737974</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<301::AID-HUMU1>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737974">White et al., 2000</a>; <a href="#29" class="mim-tip-reference" title="Marmorstein, A. D., Marmorstein, L. Y., Rayborn, M., Wang, X., Hollyfield, J. G., Petrukhin, K. <strong>Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium.</strong> Proc. Nat. Acad. Sci. 97: 12758-12763, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11050159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11050159</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11050159[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/10.1073/pnas.220402097" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11050159">Marmorstein et al., 2000</a>; <a href="#26" class="mim-tip-reference" title="Leroy, B. P. <strong>Bestrophinopathies. In: Traboulsi, E. I. (ed.): Genetic Diseases of the Eye. (2nd ed.)</strong> New York: Oxford Univ. Press (pub.) 2012. Pp. 426-436."None>Leroy, 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5904376+10737974+11050159" 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>For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (<a href="/entry/153840">153840</a>).</p>
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<p><a href="#3" class="mim-tip-reference" title="Best, F. <strong>Ueber eine hereditaere Maculaaffektion.</strong> Z. Augenheilk. 13: 199-212, 1905."None>Best (1905)</a> described a family in which 8 persons were affected with hereditary vitelliform macular dystrophy. Follow-up of this family by <a href="#50" class="mim-tip-reference" title="Vossius, A. <strong>Ueber die Bestsche familiaere Maculadegeneration.</strong> Arch. Ophthal. 105: 1050-1059, 1921."None>Vossius (1921)</a> and <a href="#22" class="mim-tip-reference" title="Jung, E. E. <strong>Ueber eine Sippe mit angeborener Maculadegeneration.</strong> Giessen: Seibert (pub.) 1936."None>Jung (1936)</a> increased the number of affected individuals to 22. <a href="#16" class="mim-tip-reference" title="Friedenwald, J. S., Maumenee, A. E. <strong>Peculiar macular lesions with unaccountably good vision.</strong> Arch. Ophthal. 45: 567-570, 1951.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14829117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14829117</a>] [<a href="https://doi.org/10.1001/archopht.1951.01700010579009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14829117">Friedenwald and Maumenee (1951)</a> observed affected mother and daughter. <a href="#10" class="mim-tip-reference" title="Davis, C. T., Hollenhorst, R. W. <strong>Hereditary degeneration of the macula: occurring in five generations.</strong> Am. J. Ophthal. 39: 637-643, 1955.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14361622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14361622</a>] [<a href="https://doi.org/10.1016/0002-9394(55)90035-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14361622">Davis and Hollenhorst (1955)</a> described a kindred containing at least 24 affected persons in 5 generations. The age of onset of manifest visual disability varied from very early childhood to adolescence. Cystoid macular degeneration was described in a dominant pedigree pattern by <a href="#12" class="mim-tip-reference" title="Falls, H. F. <strong>Hereditary congenital macular degeneration.</strong> Am. J. Hum. Genet. 1: 96-104, 1949.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17948388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17948388</a>]" pmid="17948388">Falls (1949)</a> and <a href="#45" class="mim-tip-reference" title="Sorsby, A., Savory, M., Davey, J. B., Fraser, R. J. L. <strong>Macular cysts: a dominantly inherited affection with a progressive course.</strong> Brit. J. Ophthal. 40: 144-158, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13315939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13315939</a>] [<a href="https://doi.org/10.1136/bjo.40.3.144" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13315939">Sorsby et al. (1956)</a>. <a href="#48" class="mim-tip-reference" title="Vail, D., Shoch, D. <strong>Hereditary degeneration of the macula. II. Follow-up report and histopathologic study.</strong> Trans. Am. Ophthal. Soc. 63: 51-63, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5859796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5859796</a>]" pmid="5859796">Vail and Shoch (1965)</a> followed up on an extensively affected kindred and reported histologic findings in a patient who died at 78 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14361622+13315939+17948388+14829117+5859796" 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="#5" class="mim-tip-reference" title="Braley, A. E., Spivey, B. E. <strong>Hereditary vitelline macular degeneration: a clinical and functional evaluation of a new pedigree with variable expressivity and dominant inheritance.</strong> Arch. Ophthal. 72: 743-762, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14205432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14205432</a>] [<a href="https://doi.org/10.1001/archopht.1964.00970020743003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14205432">Braley and Spivey (1964)</a> examined 27 members of a large 4-generation Iowa family of Dutch ancestry, 10 of whom had vitelline macular degeneration. Onset of disease was before age 10 years in 3 cases, before age 20 in 3, before age 30 in 3, and in the early 30s in 2. At least 4 patients had sudden onset of visual loss that improved to some degree. Good visual acuity was present in some patients despite severe macular changes. In every patient with visual loss, a central scotoma was present that conformed to the position and size of the macular lesion. Dark adaptation was normal in all family members; color vision was normal in all unaffected family members, whereas most affected family members showed red-green deficiency. <a href="#5" class="mim-tip-reference" title="Braley, A. E., Spivey, B. E. <strong>Hereditary vitelline macular degeneration: a clinical and functional evaluation of a new pedigree with variable expressivity and dominant inheritance.</strong> Arch. Ophthal. 72: 743-762, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14205432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14205432</a>] [<a href="https://doi.org/10.1001/archopht.1964.00970020743003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14205432">Braley and Spivey (1964)</a> noted that not all patients exhibit the classic 'sunny side up' vitelliform lesion as the initial stage of macular degeneration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14205432" 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 Sweden, <a href="#35" class="mim-tip-reference" title="Nordstrom, S., Barkman, Y. <strong>Hereditary macular degeneration (HMD) in 246 cases traced to one gene-source in central Sweden.</strong> Hereditas 84: 163-176, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/838599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">838599</a>] [<a href="https://doi.org/10.1111/j.1601-5223.1977.tb01394.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="838599">Nordstrom and Barkman (1977)</a> and <a href="#36" class="mim-tip-reference" title="Nordstrom, S., Thorburn, W. <strong>Dominantly inherited macular degeneration (Best's disease) in a homozygous father with 11 children.</strong> Clin. Genet. 18: 211-216, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7438501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7438501</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00874.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7438501">Nordstrom and Thorburn (1980)</a> traced 250 cases of Best disease to one gene source in the 17th century. An apparently homozygous father had 11 children, all of whom were affected. Age of onset varied from early childhood to the 40s and 50s. The electrooculogram (EOG) was helpful in preclinical detection. The range of severity was wide among the 11; indeed, one, aged 24, could be identified only by pathologic EOGs. The homozygotic state did not differ from the heterozygotic state. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7438501+838599" 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="#38" class="mim-tip-reference" title="O'Gorman, S., Flaherty, W. A., Fishman, G. A., Berson, E. L. <strong>Histopathologic findings in Best's vitelliform macular dystrophy.</strong> Arch. Ophthal. 106: 1261-1268, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3415551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3415551</a>] [<a href="https://doi.org/10.1001/archopht.1988.01060140421045" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3415551">O'Gorman et al. (1988)</a> described the histopathologic findings in the postmortem eyes of a 69-year-old man with this disorder. Retinal pigment epithelial (RPE) cells across the entire fundus had accumulated an excessive amount of lipofuscin as defined by ultrastructural appearance, autofluorescence, and staining properties. An accumulation of heterogeneous material located between Bruch membrane and the pigment epithelium in the fovea was interpreted as representing a previtelliform lesion. The material appeared to be derived from degenerating pigment epithelial cells and contained few intact lipofuscin granules. Foveal photoreceptor loss occurred above the lesion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3415551" 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="#7" class="mim-tip-reference" title="Brecher, R., Bird, A. C. <strong>Adult vitelliform macular dystrophy.</strong> Eye 4: 210-215, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2323472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2323472</a>] [<a href="https://doi.org/10.1038/eye.1990.28" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2323472">Brecher and Bird (1990)</a> investigated the families of 12 probands who presented with foveal lesions typical of adult vitelliform macular dystrophy and found familial involvement compatible with autosomal dominant inheritance in 10 families. In the remaining 2 families, no familial involvement was detected, but both parents were not available for examination. Over half (14 of 25) of patients with abnormal fundi were asymptomatic, and most had good visual acuity, although 2 patients had visual acuities of less than 20/60 in both eyes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2323472" 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="#52" class="mim-tip-reference" title="Weber, B. H. F., Walker, D., Muller, B. <strong>Molecular evidence for non-penetrance in Best's disease.</strong> J. Med. Genet. 31: 388-392, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8064817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8064817</a>] [<a href="https://doi.org/10.1136/jmg.31.5.388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8064817">Weber et al. (1994)</a> identified a 37-year-old male who appeared to represent nonpenetrance of Best disease because he had inherited the haplotype associated in his family with the disorder, but showed no signs of the disease on repeated examination and EOG. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8064817" 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>By optical coherence tomography (OCT) in a case of BMD, <a href="#49" class="mim-tip-reference" title="Vedantham, V., Ramasamy, K. <strong>Optical coherence tomography in Best's disease: an observational case report.</strong> Am. J. Ophthal. 139: 351-353, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15734003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15734003</a>] [<a href="https://doi.org/10.1016/j.ajo.2004.07.039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15734003">Vedantham and Ramasamy (2005)</a> found that lipofuscin accumulated in a cystic space under the retinal pigment epithelium in the 'pseudohypopyon' stage of the disease, and that disruption of photoreceptors occurred in the 'scrambled egg' stage. The authors suggested that these findings explain the retention of good visual acuity in the pseudohypopyon stage and the loss of visual acuity in the scrambled egg stage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15734003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using indocyanine green angiography (ICG), <a href="#30" class="mim-tip-reference" title="Maruko, I., Iida, T., Spaide, R. F., Kishi, S. <strong>Indocyanine green angiography abnormality of the periphery in vitelliform macular dystrophy.</strong> Am. J. Ophthal. 141: 976-978, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16678528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16678528</a>] [<a href="https://doi.org/10.1016/j.ajo.2005.12.046" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16678528">Maruko et al. (2006)</a> observed hyperfluorescent spots throughout the peripheral fundus in all 8 eyes of 4 patients with Best disease. The extensive distribution of the spots was consistent with the wide-ranging abnormalities of the retinal pigment epithelium, Bruch membrane, and choroid that have been observed histopathologically. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16678528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an eye from a Best disease donor with a T6R mutation in the BEST1 gene, <a href="#32" class="mim-tip-reference" title="Mullins, R. F., Kuehn, M. H., Faidley, E. A., Syed, N. A., Stone, E. M. <strong>Differential macular and peripheral expression of bestrophin in human eyes and its implications for Best disease.</strong> Invest. Ophthal. Vis. Sci. 48: 3372-3380, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17591911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17591911</a>] [<a href="https://doi.org/10.1167/iovs.06-0868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17591911">Mullins et al. (2007)</a> found deposits containing lipid and glycoconjugates within the eye's central retinal scar. Immunohistochemical localization of bestrophin in a series of 22 unaffected eyes revealed a pattern in which macular labeling was less robust than labeling outside the macular area in 18 of the 22. <a href="#32" class="mim-tip-reference" title="Mullins, R. F., Kuehn, M. H., Faidley, E. A., Syed, N. A., Stone, E. M. <strong>Differential macular and peripheral expression of bestrophin in human eyes and its implications for Best disease.</strong> Invest. Ophthal. Vis. Sci. 48: 3372-3380, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17591911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17591911</a>] [<a href="https://doi.org/10.1167/iovs.06-0868" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17591911">Mullins et al. (2007)</a> concluded that topographic differences in the levels of bestrophin protein might in part explain the propensity for the macula to develop lesions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17591911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#33" class="mim-tip-reference" title="Mullins, R. F., Oh, K. T., Heffron, E., Hageman, G. S., Stone, E. M. <strong>Late development of vitelliform lesions and flecks in a patient with Best disease: clinicopathologic correlation.</strong> Arch. Ophthal. 123: 1588-1594, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16286623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16286623</a>] [<a href="https://doi.org/10.1001/archopht.123.11.1588" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16286623">Mullins et al. (2005)</a> restudied a male patient from the Iowa family of Dutch ancestry originally reported by <a href="#5" class="mim-tip-reference" title="Braley, A. E., Spivey, B. E. <strong>Hereditary vitelline macular degeneration: a clinical and functional evaluation of a new pedigree with variable expressivity and dominant inheritance.</strong> Arch. Ophthal. 72: 743-762, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14205432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14205432</a>] [<a href="https://doi.org/10.1001/archopht.1964.00970020743003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14205432">Braley and Spivey (1964)</a>, in which a missense mutation in the BEST1 gene (<a href="/entry/607854#0004">607854.0004</a>) was identified by <a href="#40" class="mim-tip-reference" title="Petrukhin, K., Koisti, M. J., Bakall, B., Li, W., Xie, G., Marknell, T., Sandgren, O., Forsman, K., Holmgren, G., Andreasson, S., Vujic, M., Bergen, A. A. B., McGarty-Dugan, V., Figueroa, D., Austin, C. P., Metzker, M. L., Caskey, C. T., Wadelius, C. <strong>Identification of the gene responsible for Best macular dystrophy.</strong> Nature Genet. 19: 241-247, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662395</a>] [<a href="https://doi.org/10.1038/915" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662395">Petrukhin et al. (1998)</a>. The patient had photographically documented normal maculae at age 51 years, but subsequently developed small vitelliform lesions at age 75 years, followed by widespread flecks in the midperiphery; 2 additional family members exhibited similar multifocal lesions. Histologic examination showed that the flecks represented clusters of vesicular drusen that were less eosinophilic than typical drusen but were otherwise of similar composition. <a href="#33" class="mim-tip-reference" title="Mullins, R. F., Oh, K. T., Heffron, E., Hageman, G. S., Stone, E. M. <strong>Late development of vitelliform lesions and flecks in a patient with Best disease: clinicopathologic correlation.</strong> Arch. Ophthal. 123: 1588-1594, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16286623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16286623</a>] [<a href="https://doi.org/10.1001/archopht.123.11.1588" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16286623">Mullins et al. (2005)</a> noted that vitelliform lesions had been documented to develop as late as 60 years of age in a patient with classic Best disease (<a href="#44" class="mim-tip-reference" title="Sorr, E. M., Goldberg, R. E. <strong>Vitelliform dystrophy in a 64-year-old man.</strong> Am. J. Ophthal. 82: 256-258, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/949078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">949078</a>] [<a href="https://doi.org/10.1016/0002-9394(76)90429-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="949078">Sorr and Goldberg, 1976</a>), and that midperipheral flecks, while uncommon, may be present. Review of 77 consecutive photofiles of patients with a clinical and molecular diagnosis of Best disease revealed 7 patients (9.1%) from 3 unrelated families who also exhibited multifocal lesions consisting of small peripheral flecks. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14205432+9662395+16286623+949078" 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="Boon, C. J. F., Klevering, B. J., den Hollander, A. I., Zonneveld, M. N., Theelen, T., Cremers, F. P. M., Hoyng, C. B. <strong>Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.</strong> Arch. Ophthal. 125: 1100-1106, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17698758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17698758</a>] [<a href="https://doi.org/10.1001/archopht.125.8.1100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17698758">Boon et al. (2007)</a> studied 15 unrelated patients with multifocal vitelliform lesions. Age at onset was highly variable, ranging from 5 to 59 years. The peripheral lesions varied in number, size, and overall appearance, but showed similar characteristics on autofluorescence imaging and OCT compared with the central vitelliform lesion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17698758" 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="#25" class="mim-tip-reference" title="Lee, Y. S., Kim, E.-S., Kim, M., Kim, Y.-G., Kwak, H.-W., Yu, S.-Y. <strong>Atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy: case reports.</strong> BMC Ophthal. 12: 25, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22817759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22817759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22817759[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/10.1186/1471-2415-12-25" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22817759">Lee et al. (2012)</a> studied 2 unrelated, initially asymptomatic male patients who exhibited incidentally discovered bilateral macular atrophic lesions at age 30 years and 51 years, respectively, with serous retinal detachment in the macula on OCT and multiple leakages around the central hypofluorescent area as well as partially dilated choroidal vessels on fluorescein angiography. The lesions were thought to represent chronic central serous chorioretinopathy but were unresponsive to treatment. Reevaluation revealed yellowish deposits at the border of serous retinal detachment areas; OCT showed hyperreflective lesions between the RPE and outer segment layers of the retina, and fundus autofluorescence (FAF) showed ring-like hyperautofluorescence around the serous retinal detachment. Both patients also had decreased Arden ratios on EOG and were found to have mutations in the BEST1 gene, resulting in a diagnosis of atypical vitelliform macular dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22817759" 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="#39" class="mim-tip-reference" title="Parodi, M. B., Iacono, P., Del Turco, C., Bandello, F. <strong>Near-infrared fundus autofluorescence in subclinical Best vitelliform macular dystrophy.</strong> Am. J. Ophthal. 158: 1247-1252, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25174897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25174897</a>] [<a href="https://doi.org/10.1016/j.ajo.2014.08.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25174897">Parodi et al. (2014)</a> studied the fundus autofluorescence patterns in the eyes of 4 patients with a bilateral subclinical form of Best disease (positive testing for BEST1 gene mutation, fully preserved best-corrected visual acuity, normal fundus appearance) and the clinically unaffected eyes of 2 patients with unilateral Best disease. Short-wavelength FAF findings were consistently normal, whereas near-infrared FAF showed an abnormal pattern marked by a central hypoautofluorescence surrounded by a round area of hyperautofluorescence. Microperimetry corroborated the near-infrared FAF pattern. No changes were found in a 24- to 36-month follow-up of the patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25174897" 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>Definitive mapping of the locus for Best macular dystrophy was achieved by <a href="#47" class="mim-tip-reference" title="Stone, E. M., Nichols, B. E., Streb, L. M., Kimura, A. E., Sheffield, V. C. <strong>Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.</strong> Nature Genet. 1: 246-250, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1302019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1302019</a>] [<a href="https://doi.org/10.1038/ng0792-246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1302019">Stone et al. (1992)</a>, who studied a 5-generation family with 29 affected persons. Linkage analysis located the gene on chromosome 11q13. Multipoint analysis yielded a maximum lod score of 9.3 for location in the interval between INT2 (FGF3; <a href="/entry/164950">164950</a>) and D11S871. Using 8 microsatellite markers, <a href="#51" class="mim-tip-reference" title="Weber, B. H. F., Walker, D., Muller, B., Mar, L. <strong>Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: no evidence for locus heterogeneity.</strong> Genomics 20: 267-274, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8020974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8020974</a>] [<a href="https://doi.org/10.1006/geno.1994.1163" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8020974">Weber et al. (1994)</a> studied 3 multigenerational Best disease families and refined the localization of the disease gene to a 3.7-cM interval between markers at D11S903 and PYGM (<a href="/entry/608455">608455</a>). PCR-hybrid mapping sublocalized this interval to the pericentromeric region of chromosome 11. Identification of 3 distinct haplotypes associated with the disease in the 3 families strongly suggested independent origins of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1302019+8020974" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large Swedish family with more than 250 cases of Best macular dystrophy (see <a href="#35" class="mim-tip-reference" title="Nordstrom, S., Barkman, Y. <strong>Hereditary macular degeneration (HMD) in 246 cases traced to one gene-source in central Sweden.</strong> Hereditas 84: 163-176, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/838599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">838599</a>] [<a href="https://doi.org/10.1111/j.1601-5223.1977.tb01394.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="838599">Nordstrom and Barkman, 1977</a>), descended from a couple born in central Sweden in the 17th century, <a href="#14" class="mim-tip-reference" title="Forsman, K., Graff, C., Nordstrom, S., Johansson, K., Westermark, E., Lundgren, E., Gustavson, K.-H., Wadelius, C., Holmgren, G. <strong>The gene for Best's macular dystrophy is located at 11q13 in a Swedish family.</strong> Clin. Genet. 42: 156-159, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1395087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1395087</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03229.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1395087">Forsman et al. (1992)</a> obtained a lod score of 15.12 at a recombination fraction 0.01 for linkage with an INT2 marker on chromosome 11q13. Thus, the gene for rod outer segment protein-1 (ROM1; <a href="/entry/180721">180721</a>), which maps to the same region, became the leading candidate for the site of the mutation in this disorder. <a href="#47" class="mim-tip-reference" title="Stone, E. M., Nichols, B. E., Streb, L. M., Kimura, A. E., Sheffield, V. C. <strong>Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.</strong> Nature Genet. 1: 246-250, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1302019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1302019</a>] [<a href="https://doi.org/10.1038/ng0792-246" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1302019">Stone et al. (1992)</a> likewise demonstrated genetic linkage of Best disease to 11q13, and <a href="#2" class="mim-tip-reference" title="Bascom, R. A., Liu, L., Chen, J., Duncan, A., Kimberling, W. J., Moller, C. G., Humphries, P., Nathans, J., McInnes, R. R. <strong>ROM1: a candidate gene for autosomal dominant retinitis pigmentosa (ADRP), Usher syndrome type 1, and Best vitelliform macular dystrophy. (Abstract)</strong> Am. J. Hum. Genet. 51 (suppl.): A6, 1992."None>Bascom et al. (1992)</a> presented evidence that the ROM1 gene may be the site of the mutation in Best disease. Using highly polymorphic markers, <a href="#34" class="mim-tip-reference" title="Nichols, B. E., Bascom, R., Litt, M., McInnes, R., Sheffield, V. C., Stone, E. M. <strong>Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.</strong> Am. J. Hum. Genet. 54: 95-103, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8279475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8279475</a>]" pmid="8279475">Nichols et al. (1994)</a> narrowed the genetic region that contains the Best disease gene to the 10-cM region between markers D11S871 and PYGM. Marker D11S956 demonstrated no recombinants with Best disease in 3 large kindreds and resulted in a lod score of 18.2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8279475+1302019+1395087+838599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a combination of single-strand conformation polymorphism (SSCP) analysis, denaturing gradient gel electrophoresis, and DNA sequencing to screen the entire coding region of the ROM1 gene in 11 different unrelated patients with Best disease, <a href="#34" class="mim-tip-reference" title="Nichols, B. E., Bascom, R., Litt, M., McInnes, R., Sheffield, V. C., Stone, E. M. <strong>Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.</strong> Am. J. Hum. Genet. 54: 95-103, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8279475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8279475</a>]" pmid="8279475">Nichols et al. (1994)</a> could find no nucleotide changes in the coding sequence of any affected patient. They concluded that mutations within the coding sequence of ROM1 are unlikely to cause Best disease. <a href="#18" class="mim-tip-reference" title="Graff, C., Forsman, K., Larsson, C., Nordstrom, S., Lind, L., Johansson, K., Sandgren, O., Weissenbach, J., Holmgren, G., Gustavson, K.-H., Wadelius, C. <strong>Fine mapping of Best's macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci.</strong> Genomics 24: 425-434, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7713492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7713492</a>] [<a href="https://doi.org/10.1006/geno.1994.1648" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7713492">Graff et al. (1994)</a> localized the VMD2 locus to the 6-cM genetic interval between 2 DNA markers, one of which was associated with ROM1 in a large Swedish 12-generation kindred. Mutation analyses of ROM1 revealed no mutations that could explain the disease phenotype. Furthermore, one recombinant event between intragenic ROM1 polymorphisms and the Best disease phenotype was detected. Thus, ROM1 was excluded as the site of the disease-causing mutations in this kindred. Coding sequence mutations in ROM1 were also excluded by <a href="#21" class="mim-tip-reference" title="Hou, Y.-C., Richards, J. E., Bingham, E. L., Pawar, H., Scott, K., Segal, M., Lunetta, K. L., Boehnke, M., Sieving, P. A. <strong>Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family.</strong> Hum. Hered. 46: 211-220, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8807324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8807324</a>] [<a href="https://doi.org/10.1159/000154356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8807324">Hou et al. (1996)</a> in 2 affected members of a large 5-generation North American pedigree with Best macular degeneration mapping to 11q. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8807324+7713492+8279475" 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>By studying the large Swedish VMD2 family dating back to the 17th century (<a href="#35" class="mim-tip-reference" title="Nordstrom, S., Barkman, Y. <strong>Hereditary macular degeneration (HMD) in 246 cases traced to one gene-source in central Sweden.</strong> Hereditas 84: 163-176, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/838599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">838599</a>] [<a href="https://doi.org/10.1111/j.1601-5223.1977.tb01394.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="838599">Nordstrom and Barkman, 1977</a>), <a href="#17" class="mim-tip-reference" title="Graff, C., Eriksson, A., Forsman, K., Sandgren, O., Holmgren, G., Wadelius, C. <strong>Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids.</strong> Hum. Genet. 101: 263-270, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9439653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9439653</a>] [<a href="https://doi.org/10.1007/s004390050627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9439653">Graff et al. (1997)</a> refined the VMD2 region to a span of approximately 980 kb flanked by D11S4076 and uteroglobin (UGB; <a href="/entry/192020">192020</a>). <a href="#46" class="mim-tip-reference" title="Stohr, H., Marquardt, A., Rivera, A., Cooper, P. R., Nowak, N. J., Shows, T. B., Gerhard, D. S., Weber, B. H. F. <strong>A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1.</strong> Genome Res. 8: 48-56, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9445487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9445487</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9445487[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/10.1101/gr.8.1.48" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9445487">Stohr et al. (1998)</a>, who gave the location of the VMD2 gene as a region of approximately 1.4 Mb on 11q12-q13.1, assembled a high-coverage YAC contig of this region. They constructed a primary transcript map that placed 19 genes within the region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9439653+9445487+838599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
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<a href="#28" class="mim-tip-reference" title="Mansergh, F. C., Kenna, P. F., Rudolph, G., Meitinger, T., Farrar, G. J., Kumar-Singh, R., Scorer, J., Hally, A. M., Mynett-Johnson, L., Humphries, M. M., Kiang, S., Humphries, P. <strong>Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.</strong> J. Med. Genet. 32: 855-858, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8592326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8592326</a>] [<a href="https://doi.org/10.1136/jmg.32.11.855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8592326">Mansergh et al. (1995)</a> established genetic heterogeneity in this disorder by finding linkage to chromosome 11 in an Irish family and excluding linkage to chromosome 11 in a German family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8592326" 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="#9" class="mim-tip-reference" title="Chacon-Camacho, O. F., Camarillo-Blancarte, L., Zenteno, J. C. <strong>OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.</strong> Ophthalmic Genet. 32: 24-30, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21077756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21077756</a>] [<a href="https://doi.org/10.3109/13816810.2010.524906" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21077756">Chacon-Camacho et al. (2011)</a> performed optical coherence tomography (OCT) in symptomatic and asymptomatic individuals from 2 Mexican families segregating Best disease caused by mutation in the BEST1 gene. Symptomatic patients showed severe retinal serous retinal detachment in both families. In 1 family, an 8-year-old carrying a Q293K mutation was demonstrated to have Best disease-related retinal lesions, i.e., bilateral subfoveal lesions and unilateral serous retinal detachment. Conversely, in the other family, an asymptomatic 6-year-old carrying a W24C mutation did not demonstrate retinal abnormalities. <a href="#9" class="mim-tip-reference" title="Chacon-Camacho, O. F., Camarillo-Blancarte, L., Zenteno, J. C. <strong>OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.</strong> Ophthalmic Genet. 32: 24-30, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21077756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21077756</a>] [<a href="https://doi.org/10.3109/13816810.2010.524906" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21077756">Chacon-Camacho et al. (2011)</a> suggested that OCT can be used during early childhood for presymptomatic diagnosis of some cases of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21077756" 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 VMD2 in the families studied by <a href="#40" class="mim-tip-reference" title="Petrukhin, K., Koisti, M. J., Bakall, B., Li, W., Xie, G., Marknell, T., Sandgren, O., Forsman, K., Holmgren, G., Andreasson, S., Vujic, M., Bergen, A. A. B., McGarty-Dugan, V., Figueroa, D., Austin, C. P., Metzker, M. L., Caskey, C. T., Wadelius, C. <strong>Identification of the gene responsible for Best macular dystrophy.</strong> Nature Genet. 19: 241-247, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662395</a>] [<a href="https://doi.org/10.1038/915" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662395">Petrukhin et al. (1998)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662395" 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 several Swedish and Dutch families with Best macular dystrophy, including the large Swedish family reported by <a href="#35" class="mim-tip-reference" title="Nordstrom, S., Barkman, Y. <strong>Hereditary macular degeneration (HMD) in 246 cases traced to one gene-source in central Sweden.</strong> Hereditas 84: 163-176, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/838599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">838599</a>] [<a href="https://doi.org/10.1111/j.1601-5223.1977.tb01394.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="838599">Nordstrom and Barkman (1977)</a> and studied by <a href="#17" class="mim-tip-reference" title="Graff, C., Eriksson, A., Forsman, K., Sandgren, O., Holmgren, G., Wadelius, C. <strong>Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids.</strong> Hum. Genet. 101: 263-270, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9439653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9439653</a>] [<a href="https://doi.org/10.1007/s004390050627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9439653">Graff et al. (1997)</a>, and the Iowa family of Dutch ancestry originally reported by <a href="#5" class="mim-tip-reference" title="Braley, A. E., Spivey, B. E. <strong>Hereditary vitelline macular degeneration: a clinical and functional evaluation of a new pedigree with variable expressivity and dominant inheritance.</strong> Arch. Ophthal. 72: 743-762, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14205432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14205432</a>] [<a href="https://doi.org/10.1001/archopht.1964.00970020743003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14205432">Braley and Spivey (1964)</a>, <a href="#40" class="mim-tip-reference" title="Petrukhin, K., Koisti, M. J., Bakall, B., Li, W., Xie, G., Marknell, T., Sandgren, O., Forsman, K., Holmgren, G., Andreasson, S., Vujic, M., Bergen, A. A. B., McGarty-Dugan, V., Figueroa, D., Austin, C. P., Metzker, M. L., Caskey, C. T., Wadelius, C. <strong>Identification of the gene responsible for Best macular dystrophy.</strong> Nature Genet. 19: 241-247, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662395</a>] [<a href="https://doi.org/10.1038/915" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9662395">Petrukhin et al. (1998)</a> identified 5 different mutations in the VMD2 gene (<a href="/entry/607854#0001">607854.0001</a>-<a href="/entry/607854#0005">607854.0005</a>) that segregated with the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9439653+14205432+9662395+838599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Caldwell, G. M., Kakuk, L. E., Griesinger, I. B., Simpson, S. A., Nowak, N. J., Small, K. W., Maumenee, I. H., Rosenfeld, P. J., Sieving, P. A., Shows, T. B., Ayyagari, R. <strong>Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.</strong> Genomics 58: 98-101, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10331951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10331951</a>] [<a href="https://doi.org/10.1006/geno.1999.5808" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10331951">Caldwell et al. (1999)</a> analyzed the bestrophin gene in 13 families with Best macular dystrophy and identified heterozygous mutations in 9 families, including 6 missense mutations and a 2-bp deletion (<a href="/entry/607854#0012">607854.0012</a>). In 3 of the families, there was a parent carrying the missense mutation who lacked the clinical phenotype, suggesting variable expression of the disease gene. <a href="#8" class="mim-tip-reference" title="Caldwell, G. M., Kakuk, L. E., Griesinger, I. B., Simpson, S. A., Nowak, N. J., Small, K. W., Maumenee, I. H., Rosenfeld, P. J., Sieving, P. A., Shows, T. B., Ayyagari, R. <strong>Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.</strong> Genomics 58: 98-101, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10331951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10331951</a>] [<a href="https://doi.org/10.1006/geno.1999.5808" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10331951">Caldwell et al. (1999)</a> found no mutations in the bestrophin gene in the large North American family with Best macular dystrophy previously mapped to chromosome 11q by <a href="#21" class="mim-tip-reference" title="Hou, Y.-C., Richards, J. E., Bingham, E. L., Pawar, H., Scott, K., Segal, M., Lunetta, K. L., Boehnke, M., Sieving, P. A. <strong>Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family.</strong> Hum. Hered. 46: 211-220, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8807324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8807324</a>] [<a href="https://doi.org/10.1159/000154356" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8807324">Hou et al. (1996)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8807324+10331951" 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 2 unrelated women who had vitelliform macular dystrophy diagnosed in the sixth decade of life, <a href="#1" class="mim-tip-reference" title="Allikmets, R., Seddon, J. M., Bernstein, P. S., Hutchinson, A., Atkinson, A., Sharma, S., Gerrard, B., Li, W., Metzker, M. L., Wadelius, C., Caskey, C. T., Dean, M., Petrukhin, K. <strong>Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.</strong> Hum. Genet. 104: 449-453, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10453731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10453731</a>] [<a href="https://doi.org/10.1007/s004390050986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10453731">Allikmets et al. (1999)</a> identified heterozygous missense mutations in the BEST1 gene (E119Q, <a href="/entry/607854#0008">607854.0008</a> and A146K <a href="/entry/607854#0009">607854.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10453731" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Kramer, F., White, K., Pauleikhoff, D., Gehrig, A., Passmore, L., Rivera, A., Rudolph, G., Kellner, U., Andrassi, M., Lorenz, B., Rohrschneider, K., Blankenagel, A., Jurklies, B., Schilling, H., Schutt, F., Holz, F. G., Weber, B. H. F. <strong>Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.</strong> Europ. J. Hum. Genet. 8: 286-292, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10854112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10854112</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200447" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10854112">Kramer et al. (2000)</a> identified several mutations in the VMD2 gene in German patients with macular dystrophy of juvenile and adult onset (see, e.g., <a href="/entry/607854#0005">607854.0005</a> and <a href="/entry/607854#0010">607854.0010</a>-<a href="/entry/607854#0011">607854.0011</a>) and suggested that the adult-onset patients represented a mild form of Best disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10854112" 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="#53" class="mim-tip-reference" title="White, K., Marquardt, A., Weber, B. H. F. <strong>VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.</strong> Hum. Mutat. 15: 301-308, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737974</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<301::AID-HUMU1>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10737974">White et al. (2000)</a> stated that 48 different mutations, predominantly missense mutations, had been described in the VMD2 gene in Best disease families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10737974" 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="#43" class="mim-tip-reference" title="Schatz, P., Klar, J., Andreasson, S., Ponjavic, V., Dahl, N. <strong>Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutation in VMD2.</strong> Ophthal. Genet. 27: 51-56, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16754206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16754206</a>] [<a href="https://doi.org/10.1080/13816810600677990" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16754206">Schatz et al. (2006)</a> identified mutations in the BEST1 gene in all 6 affected members of a 3-generation Swedish family with Best macular dystrophy. One was heterozygous for an arg141-to-his (R141H; <a href="/entry/607854#0013">607854.0013</a>) mutation, 3 were heterozygous for a tyr29-to-ter (Y29X; <a href="/entry/607854#0014">607854.0014</a>) mutation, and 2 were compound heterozygous for these mutations. The 2 members who were compound heterozygous had a more severe phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16754206" 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 9 (60%) of 15 unrelated patients with multifocal vitelliform lesions, <a href="#4" class="mim-tip-reference" title="Boon, C. J. F., Klevering, B. J., den Hollander, A. I., Zonneveld, M. N., Theelen, T., Cremers, F. P. M., Hoyng, C. B. <strong>Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.</strong> Arch. Ophthal. 125: 1100-1106, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17698758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17698758</a>] [<a href="https://doi.org/10.1001/archopht.125.8.1100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17698758">Boon et al. (2007)</a> identified heterozygosity for mutations in the BEST1 gene (see, e.g., <a href="/entry/607854#0005">607854.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17698758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 15-year-old proband with multifocal VMD, <a href="#54" class="mim-tip-reference" title="Wittstrom, E., Ekvall, S., Schatz, P., Bondeson, M.-L., Ponjavic, V., Andreasson, S. <strong>Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.</strong> Ophthalmic Genet. 32: 83-96, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21192766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21192766</a>] [<a href="https://doi.org/10.3109/13816810.2010.535890" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21192766">Wittstrom et al. (2011)</a> identified compound heterozygosity for 2 mutations in the BEST1 gene: the R141H mutation and a de novo P233A substitution. The R141H mutation was present in heterozygosity in her asymptomatic mother and brother, both of whom showed delayed implicit times in a- and b-waves of combined total rod and cone full-field ERG responses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21192766" 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="#4" class="mim-tip-reference" title="Boon, C. J. F., Klevering, B. J., den Hollander, A. I., Zonneveld, M. N., Theelen, T., Cremers, F. P. M., Hoyng, C. B. <strong>Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.</strong> Arch. Ophthal. 125: 1100-1106, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17698758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17698758</a>] [<a href="https://doi.org/10.1001/archopht.125.8.1100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17698758">Boon et al. (2007)</a> compared the clinical findings in patients with multifocal vitelliform retinal dystrophy with or without mutations in the BEST1 gene. All 9 patients with BEST1 mutations had abnormal EOG findings compared with 2 of 6 patients without BEST1 mutations; in addition, those with a mutation had a highly variable but seemingly younger age at onset and a more pronounced loss of visual acuity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17698758" 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="#31" class="mim-tip-reference" title="Meunier, I., Manes, G., Bocquet, B., Marquette, V., Baudoin, C., Puech, B., Defoort-Dhellemmes, S., Audo, I., Verdet, R., Arndt, C., Zanlonghi, X., Le Meur, G., Dhaenens, C.-M., Hamel, C. P. <strong>Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.</strong> Ophthalmology 121: 2406-2414, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25085631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25085631</a>] [<a href="https://doi.org/10.1016/j.ophtha.2014.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25085631">Meunier et al. (2014)</a> reviewed 76 families with vitelliform macular dystrophy and found that 24 (53%) of 45 families with onset of disease before 40 years of age had a mutation in the BEST1 gene, whereas 3 (9.7%) of 31 families with onset after 40 years of age had a mutation in the PRPH2 gene (<a href="/entry/179605">179605</a>). For the remaining 49 families without a mutation in BEST1 or PRPH2, 3 (6%) had a mutation in the IMPG1 gene and 1 (2%) in the IMPG2 gene (<a href="/entry/607056">607056</a>). <a href="#31" class="mim-tip-reference" title="Meunier, I., Manes, G., Bocquet, B., Marquette, V., Baudoin, C., Puech, B., Defoort-Dhellemmes, S., Audo, I., Verdet, R., Arndt, C., Zanlonghi, X., Le Meur, G., Dhaenens, C.-M., Hamel, C. P. <strong>Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.</strong> Ophthalmology 121: 2406-2414, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25085631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25085631</a>] [<a href="https://doi.org/10.1016/j.ophtha.2014.06.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25085631">Meunier et al. (2014)</a> stated that the IMPG1 and IMPG2 vitelliform macular dystrophies are characterized by late-onset moderate visual impairment, frequent association with drusen-like lesions, preservation of RPE reflectivity, lack of sub-RPE deposits on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on EOG. The authors noted that although patients with a BEST1 mutation were most frequently symptomatic before the age of 40 years, there was overlap with PRPH2 patients in terms of age of onset; in addition, the presence of small satellite drusen-like lesions in the foveal area appeared to implicate the IMPG1 or IMPG2 genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25085631" 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 dogs with canine multifocal retinopathy (cmr), which resembles human Best disease, <a href="#19" class="mim-tip-reference" title="Guziewicz, K. E., Zangerl, B., Lindauer, S. J., Mullins, R. F., Sandmeyer, L. S., Grahn, B. H., Stone, E. M., Acland, G. M., Aguirre, G. D. <strong>Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for Best disease.</strong> Invest. Ophthal. Vis. Sci. 48: 1959-1967, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17460247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17460247</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17460247[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.06-1374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17460247">Guziewicz et al. (2007)</a> identified 2 disease-specific sequence alterations in the VMD2 gene: a 73C-T stop mutation (R25X), designated cmr1, and a 482G-A missense mutation (G161D), designated cmr2. <a href="#19" class="mim-tip-reference" title="Guziewicz, K. E., Zangerl, B., Lindauer, S. J., Mullins, R. F., Sandmeyer, L. S., Grahn, B. H., Stone, E. M., Acland, G. M., Aguirre, G. D. <strong>Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for Best disease.</strong> Invest. Ophthal. Vis. Sci. 48: 1959-1967, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17460247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17460247</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17460247[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.06-1374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17460247">Guziewicz et al. (2007)</a> proposed that canine cmr is a relevant animal model for Best disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17460247" 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="#56" class="mim-tip-reference" title="Zhang, Y., Stanton, J. B., Wu, J., Yu, K., Hartzell, H. C., Peachey, N. S., Marmorstein, L. Y., Marmorstein, A. D. <strong>Suppression of Ca(2+) signaling in a mouse model of Best disease.</strong> Hum. Molec. Genet. 19: 1108-1118, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20053664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20053664</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20053664[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/10.1093/hmg/ddp583" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20053664">Zhang et al. (2010)</a> generated knockin mice carrying the Best vitelliform macular dystrophy-causing mutation W93C (<a href="/entry/607854#0001">607854.0001</a>) in Best1. Both Best1(+/W93C) and Best1(W93C/W93C) mice had normal ERG a- and b-waves, but exhibited an altered light peak luminance response reminiscent of that observed in Best macular dystrophy patients. Morphologic analysis identified fluid- and debris-filled retinal detachments in mice as young as 6 months of age. By 18 to 24 months of age, Best1(+/W93C) and Best1(W93C/W93C) mice exhibited enhanced accumulation of lipofuscin in the retinal pigment epithelium (RPE), and a significant deposition of debris composed of unphagocytosed photoreceptor outer segments and lipofuscin granules in the subretinal space. The RPE cells from Best1(W93C) mice exhibited normal chloride conductances, and ATP-stimulated changes in calcium concentration in RPE cells from Best1(+/W93C) and Best1(W93C/W93C) mice were suppressed relative to Best1 +/+ littermates. The authors hypothesized that Best vitelliform macular dystrophy does not occur because of Best1 deficiency, as the phenotypes of Best1(+/W93C0) and Best1(W93C/W93C) mice are distinct from that of Best1 -/- mice with regard to lipofuscin accumulation and changes in the light peak and ATP calcium responses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20053664" 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="#41" class="mim-tip-reference" title="Rivas, F., Ruiz, C., Rivera, H., Moller, M., Serrano-Lucas, J. I., Cantu, J. M. <strong>De novo del(6)(q25) associated with macular degeneration.</strong> Ann. Genet. 29: 42-44, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3487275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3487275</a>]" pmid="3487275">Rivas et al. (1986)</a> proposed that the segment 6q25-qter contained the locus for a dominant macular degeneration. This proposal was based on the finding of macular degeneration in an 8-month-old girl with a de novo deletion of 6q25 and in another case of terminal deletion of 6q reported by <a href="#20" class="mim-tip-reference" title="Hagemeijer, A., Hoovers, J., Smit, E. M. E., Bootsma, D. <strong>Replication pattern of the X chromosomes in three X/autosomal translocations.</strong> Cytogenet. Cell Genet. 18: 333-348, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/884969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">884969</a>] [<a href="https://doi.org/10.1159/000130780" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="884969">Hagemeijer et al. (1977)</a>. In linkage studies in 9 kindreds, <a href="#55" class="mim-tip-reference" title="Yoder, F. E., Cross, H. E., Chase, G. A., Fine, S. L., Freidhoff, L., Machan, C. H., Bias, W. B. <strong>Linkage studies of Best's macular dystrophy.</strong> Clin. Genet. 34: 26-30, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3165727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3165727</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1988.tb02611.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3165727">Yoder et al. (1988)</a> found no firm evidence for linkage with 18 informative markers; the highest positive lod score was 0.57 for glutamate-pyruvate transaminase (GPT; <a href="/entry/138200">138200</a>) on chromosome 8q24 at a recombination fraction of 0.30. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3165727+884969+3487275" 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="#Deutman1969" class="mim-tip-reference" title="Deutman, A. F. <strong>Electro-oculography in families with vitelliform dystrophy of the fovea: detection of the carrier state.</strong> Arch. Ophthal. 81: 305-316, 1969.">Deutman (1969)</a>; <a href="#Felbor1997" class="mim-tip-reference" title="Felbor, U., Schilling, H., Weber, B. H. F. <strong>Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.</strong> Hum. Mutat. 10: 301-309, 1997.">Felbor et al. (1997)</a>; <a href="#Francois1968" class="mim-tip-reference" title="Francois, J. <strong>Vitelliform degeneration of the macula.</strong> Bull. N.Y. Acad. Med. 44: 18-27, 1968.">Francois (1968)</a>; <a href="#Krill1966" class="mim-tip-reference" title="Krill, A. E., Morse, P. A., Potts, A. M., Klien, B. A. <strong>Hereditary vitelliruptive macular degeneration.</strong> Am. J. Ophthal. 61: 1405-1415, 1966.">Krill et al.
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(1966)</a>; <a href="#Maloney1977" class="mim-tip-reference" title="Maloney, W. F., Robertson, D. M., Miller, S. A. <strong>Hereditary vitelliform macular degeneration--variable fundus findings within a single pedigree.</strong> Arch. Ophthal. 95: 979-983, 1977.">Maloney et al. (1977)</a>; <a href="#Nordstrom1980" class="mim-tip-reference" title="Nordstrom, S. <strong>Epidemiological studies of hereditary macular degeneration (Best's disease) in Swedish and Swedish-American populations. In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders.</strong> New York: Academic Press (pub.) 1980. Pp. 431-443.">Nordstrom (1980)</a>; <a href="#Rosas1976" class="mim-tip-reference" title="Rosas, F. E. <strong>Maculopatia hereditaria viteliforme de Best.</strong> Ann. Soc. Mex. Oft. 50: 157-171, 1976.">Rosas (1976)</a>
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Allikmets, R., Seddon, J. M., Bernstein, P. S., Hutchinson, A., Atkinson, A., Sharma, S., Gerrard, B., Li, W., Metzker, M. L., Wadelius, C., Caskey, C. T., Dean, M., Petrukhin, K.
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<strong>Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.</strong>
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Hum. Genet. 104: 449-453, 1999.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10453731/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10453731</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10453731" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s004390050986" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Bascom1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bascom, R. A., Liu, L., Chen, J., Duncan, A., Kimberling, W. J., Moller, C. G., Humphries, P., Nathans, J., McInnes, R. R.
|
|
<strong>ROM1: a candidate gene for autosomal dominant retinitis pigmentosa (ADRP), Usher syndrome type 1, and Best vitelliform macular dystrophy. (Abstract)</strong>
|
|
Am. J. Hum. Genet. 51 (suppl.): A6, 1992.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Best1905" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Best, F.
|
|
<strong>Ueber eine hereditaere Maculaaffektion.</strong>
|
|
Z. Augenheilk. 13: 199-212, 1905.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Boon2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Boon, C. J. F., Klevering, B. J., den Hollander, A. I., Zonneveld, M. N., Theelen, T., Cremers, F. P. M., Hoyng, C. B.
|
|
<strong>Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.</strong>
|
|
Arch. Ophthal. 125: 1100-1106, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17698758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17698758</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17698758" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archopht.125.8.1100" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Braley1964" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Braley, A. E., Spivey, B. E.
|
|
<strong>Hereditary vitelline macular degeneration: a clinical and functional evaluation of a new pedigree with variable expressivity and dominant inheritance.</strong>
|
|
Arch. Ophthal. 72: 743-762, 1964.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14205432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14205432</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14205432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archopht.1964.00970020743003" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Braley1966" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Braley, A. E.
|
|
<strong>Dystrophy of the macula.</strong>
|
|
Am. J. Ophthal. 61: 1-24, 1966.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5904376/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5904376</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5904376" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-9394(66)90741-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Brecher1990" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Brecher, R., Bird, A. C.
|
|
<strong>Adult vitelliform macular dystrophy.</strong>
|
|
Eye 4: 210-215, 1990.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2323472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2323472</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2323472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/eye.1990.28" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Caldwell1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Caldwell, G. M., Kakuk, L. E., Griesinger, I. B., Simpson, S. A., Nowak, N. J., Small, K. W., Maumenee, I. H., Rosenfeld, P. J., Sieving, P. A., Shows, T. B., Ayyagari, R.
|
|
<strong>Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.</strong>
|
|
Genomics 58: 98-101, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10331951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10331951</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10331951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1999.5808" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Chacon-Camacho2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Chacon-Camacho, O. F., Camarillo-Blancarte, L., Zenteno, J. C.
|
|
<strong>OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.</strong>
|
|
Ophthalmic Genet. 32: 24-30, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21077756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21077756</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21077756" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.3109/13816810.2010.524906" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Davis1955" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Davis, C. T., Hollenhorst, R. W.
|
|
<strong>Hereditary degeneration of the macula: occurring in five generations.</strong>
|
|
Am. J. Ophthal. 39: 637-643, 1955.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14361622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14361622</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14361622" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-9394(55)90035-0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Deutman1969" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Deutman, A. F.
|
|
<strong>Electro-oculography in families with vitelliform dystrophy of the fovea: detection of the carrier state.</strong>
|
|
Arch. Ophthal. 81: 305-316, 1969.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5774285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5774285</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5774285" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archopht.1969.00990010307001" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Falls1949" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Falls, H. F.
|
|
<strong>Hereditary congenital macular degeneration.</strong>
|
|
Am. J. Hum. Genet. 1: 96-104, 1949.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17948388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17948388</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17948388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Felbor1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Felbor, U., Schilling, H., Weber, B. H. F.
|
|
<strong>Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.</strong>
|
|
Hum. Mutat. 10: 301-309, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9338584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9338584</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9338584" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)10:4<301::AID-HUMU6>3.0.CO;2-J" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Forsman1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Forsman, K., Graff, C., Nordstrom, S., Johansson, K., Westermark, E., Lundgren, E., Gustavson, K.-H., Wadelius, C., Holmgren, G.
|
|
<strong>The gene for Best's macular dystrophy is located at 11q13 in a Swedish family.</strong>
|
|
Clin. Genet. 42: 156-159, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1395087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1395087</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1395087" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03229.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Francois1968" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Francois, J.
|
|
<strong>Vitelliform degeneration of the macula.</strong>
|
|
Bull. N.Y. Acad. Med. 44: 18-27, 1968.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5239149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5239149</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5239149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Friedenwald1951" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Friedenwald, J. S., Maumenee, A. E.
|
|
<strong>Peculiar macular lesions with unaccountably good vision.</strong>
|
|
Arch. Ophthal. 45: 567-570, 1951.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14829117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14829117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14829117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archopht.1951.01700010579009" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Graff1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Graff, C., Eriksson, A., Forsman, K., Sandgren, O., Holmgren, G., Wadelius, C.
|
|
<strong>Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids.</strong>
|
|
Hum. Genet. 101: 263-270, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9439653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9439653</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9439653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s004390050627" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Graff1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Graff, C., Forsman, K., Larsson, C., Nordstrom, S., Lind, L., Johansson, K., Sandgren, O., Weissenbach, J., Holmgren, G., Gustavson, K.-H., Wadelius, C.
|
|
<strong>Fine mapping of Best's macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci.</strong>
|
|
Genomics 24: 425-434, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7713492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7713492</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7713492" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1994.1648" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Guziewicz2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Guziewicz, K. E., Zangerl, B., Lindauer, S. J., Mullins, R. F., Sandmeyer, L. S., Grahn, B. H., Stone, E. M., Acland, G. M., Aguirre, G. D.
|
|
<strong>Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for Best disease.</strong>
|
|
Invest. Ophthal. Vis. Sci. 48: 1959-1967, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17460247/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17460247</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17460247[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=17460247" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1167/iovs.06-1374" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Hagemeijer1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hagemeijer, A., Hoovers, J., Smit, E. M. E., Bootsma, D.
|
|
<strong>Replication pattern of the X chromosomes in three X/autosomal translocations.</strong>
|
|
Cytogenet. Cell Genet. 18: 333-348, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/884969/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">884969</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=884969" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000130780" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Hou1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hou, Y.-C., Richards, J. E., Bingham, E. L., Pawar, H., Scott, K., Segal, M., Lunetta, K. L., Boehnke, M., Sieving, P. A.
|
|
<strong>Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family.</strong>
|
|
Hum. Hered. 46: 211-220, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8807324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8807324</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8807324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1159/000154356" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Jung1936" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jung, E. E.
|
|
<strong>Ueber eine Sippe mit angeborener Maculadegeneration.</strong>
|
|
Giessen: Seibert (pub.) 1936.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Kramer2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kramer, F., White, K., Pauleikhoff, D., Gehrig, A., Passmore, L., Rivera, A., Rudolph, G., Kellner, U., Andrassi, M., Lorenz, B., Rohrschneider, K., Blankenagel, A., Jurklies, B., Schilling, H., Schutt, F., Holz, F. G., Weber, B. H. F.
|
|
<strong>Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.</strong>
|
|
Europ. J. Hum. Genet. 8: 286-292, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10854112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10854112</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10854112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/sj.ejhg.5200447" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Krill1966" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Krill, A. E., Morse, P. A., Potts, A. M., Klien, B. A.
|
|
<strong>Hereditary vitelliruptive macular degeneration.</strong>
|
|
Am. J. Ophthal. 61: 1405-1415, 1966.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5938308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5938308</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5938308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-9394(66)90478-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Lee2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lee, Y. S., Kim, E.-S., Kim, M., Kim, Y.-G., Kwak, H.-W., Yu, S.-Y.
|
|
<strong>Atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy: case reports.</strong>
|
|
BMC Ophthal. 12: 25, 2012. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22817759/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22817759</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22817759[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=22817759" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1186/1471-2415-12-25" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Leroy2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Leroy, B. P.
|
|
<strong>Bestrophinopathies. In: Traboulsi, E. I. (ed.): Genetic Diseases of the Eye. (2nd ed.)</strong>
|
|
New York: Oxford Univ. Press (pub.) 2012. Pp. 426-436.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Maloney1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Maloney, W. F., Robertson, D. M., Miller, S. A.
|
|
<strong>Hereditary vitelliform macular degeneration--variable fundus findings within a single pedigree.</strong>
|
|
Arch. Ophthal. 95: 979-983, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/869756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">869756</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=869756" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archopht.1977.04450060065003" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Mansergh1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mansergh, F. C., Kenna, P. F., Rudolph, G., Meitinger, T., Farrar, G. J., Kumar-Singh, R., Scorer, J., Hally, A. M., Mynett-Johnson, L., Humphries, M. M., Kiang, S., Humphries, P.
|
|
<strong>Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.</strong>
|
|
J. Med. Genet. 32: 855-858, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8592326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8592326</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8592326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.32.11.855" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Marmorstein2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Marmorstein, A. D., Marmorstein, L. Y., Rayborn, M., Wang, X., Hollyfield, J. G., Petrukhin, K.
|
|
<strong>Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium.</strong>
|
|
Proc. Nat. Acad. Sci. 97: 12758-12763, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11050159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11050159</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11050159[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=11050159" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.220402097" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Maruko2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Maruko, I., Iida, T., Spaide, R. F., Kishi, S.
|
|
<strong>Indocyanine green angiography abnormality of the periphery in vitelliform macular dystrophy.</strong>
|
|
Am. J. Ophthal. 141: 976-978, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16678528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16678528</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16678528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ajo.2005.12.046" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Meunier2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Meunier, I., Manes, G., Bocquet, B., Marquette, V., Baudoin, C., Puech, B., Defoort-Dhellemmes, S., Audo, I., Verdet, R., Arndt, C., Zanlonghi, X., Le Meur, G., Dhaenens, C.-M., Hamel, C. P.
|
|
<strong>Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.</strong>
|
|
Ophthalmology 121: 2406-2414, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25085631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25085631</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25085631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ophtha.2014.06.028" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Mullins2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mullins, R. F., Kuehn, M. H., Faidley, E. A., Syed, N. A., Stone, E. M.
|
|
<strong>Differential macular and peripheral expression of bestrophin in human eyes and its implications for Best disease.</strong>
|
|
Invest. Ophthal. Vis. Sci. 48: 3372-3380, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17591911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17591911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17591911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1167/iovs.06-0868" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Mullins2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mullins, R. F., Oh, K. T., Heffron, E., Hageman, G. S., Stone, E. M.
|
|
<strong>Late development of vitelliform lesions and flecks in a patient with Best disease: clinicopathologic correlation.</strong>
|
|
Arch. Ophthal. 123: 1588-1594, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16286623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16286623</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16286623" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archopht.123.11.1588" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Nichols1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nichols, B. E., Bascom, R., Litt, M., McInnes, R., Sheffield, V. C., Stone, E. M.
|
|
<strong>Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.</strong>
|
|
Am. J. Hum. Genet. 54: 95-103, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8279475/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8279475</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8279475" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Nordstrom1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nordstrom, S., Barkman, Y.
|
|
<strong>Hereditary macular degeneration (HMD) in 246 cases traced to one gene-source in central Sweden.</strong>
|
|
Hereditas 84: 163-176, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/838599/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">838599</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=838599" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1601-5223.1977.tb01394.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Nordstrom1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nordstrom, S., Thorburn, W.
|
|
<strong>Dominantly inherited macular degeneration (Best's disease) in a homozygous father with 11 children.</strong>
|
|
Clin. Genet. 18: 211-216, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7438501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7438501</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7438501" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00874.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Nordstrom1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nordstrom, S.
|
|
<strong>Epidemiological studies of hereditary macular degeneration (Best's disease) in Swedish and Swedish-American populations. In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders.</strong>
|
|
New York: Academic Press (pub.) 1980. Pp. 431-443.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="O'Gorman1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
O'Gorman, S., Flaherty, W. A., Fishman, G. A., Berson, E. L.
|
|
<strong>Histopathologic findings in Best's vitelliform macular dystrophy.</strong>
|
|
Arch. Ophthal. 106: 1261-1268, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3415551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3415551</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3415551" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archopht.1988.01060140421045" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Parodi2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Parodi, M. B., Iacono, P., Del Turco, C., Bandello, F.
|
|
<strong>Near-infrared fundus autofluorescence in subclinical Best vitelliform macular dystrophy.</strong>
|
|
Am. J. Ophthal. 158: 1247-1252, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25174897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25174897</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25174897" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ajo.2014.08.028" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Petrukhin1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Petrukhin, K., Koisti, M. J., Bakall, B., Li, W., Xie, G., Marknell, T., Sandgren, O., Forsman, K., Holmgren, G., Andreasson, S., Vujic, M., Bergen, A. A. B., McGarty-Dugan, V., Figueroa, D., Austin, C. P., Metzker, M. L., Caskey, C. T., Wadelius, C.
|
|
<strong>Identification of the gene responsible for Best macular dystrophy.</strong>
|
|
Nature Genet. 19: 241-247, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9662395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9662395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9662395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/915" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="41" class="mim-anchor"></a>
|
|
<a id="Rivas1986" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rivas, F., Ruiz, C., Rivera, H., Moller, M., Serrano-Lucas, J. I., Cantu, J. M.
|
|
<strong>De novo del(6)(q25) associated with macular degeneration.</strong>
|
|
Ann. Genet. 29: 42-44, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3487275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3487275</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3487275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="42" class="mim-anchor"></a>
|
|
<a id="Rosas1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Rosas, F. E.
|
|
<strong>Maculopatia hereditaria viteliforme de Best.</strong>
|
|
Ann. Soc. Mex. Oft. 50: 157-171, 1976.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="43" class="mim-anchor"></a>
|
|
<a id="Schatz2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schatz, P., Klar, J., Andreasson, S., Ponjavic, V., Dahl, N.
|
|
<strong>Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutation in VMD2.</strong>
|
|
Ophthal. Genet. 27: 51-56, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16754206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16754206</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16754206" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1080/13816810600677990" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="44" class="mim-anchor"></a>
|
|
<a id="Sorr1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sorr, E. M., Goldberg, R. E.
|
|
<strong>Vitelliform dystrophy in a 64-year-old man.</strong>
|
|
Am. J. Ophthal. 82: 256-258, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/949078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">949078</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=949078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0002-9394(76)90429-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="45" class="mim-anchor"></a>
|
|
<a id="Sorsby1956" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sorsby, A., Savory, M., Davey, J. B., Fraser, R. J. L.
|
|
<strong>Macular cysts: a dominantly inherited affection with a progressive course.</strong>
|
|
Brit. J. Ophthal. 40: 144-158, 1956.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13315939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13315939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13315939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/bjo.40.3.144" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="46" class="mim-anchor"></a>
|
|
<a id="Stohr1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stohr, H., Marquardt, A., Rivera, A., Cooper, P. R., Nowak, N. J., Shows, T. B., Gerhard, D. S., Weber, B. H. F.
|
|
<strong>A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1.</strong>
|
|
Genome Res. 8: 48-56, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9445487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9445487</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9445487[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=9445487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1101/gr.8.1.48" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="47" class="mim-anchor"></a>
|
|
<a id="Stone1992" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stone, E. M., Nichols, B. E., Streb, L. M., Kimura, A. E., Sheffield, V. C.
|
|
<strong>Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.</strong>
|
|
Nature Genet. 1: 246-250, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1302019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1302019</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1302019" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng0792-246" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="48" class="mim-anchor"></a>
|
|
<a id="Vail1965" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vail, D., Shoch, D.
|
|
<strong>Hereditary degeneration of the macula. II. Follow-up report and histopathologic study.</strong>
|
|
Trans. Am. Ophthal. Soc. 63: 51-63, 1965.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5859796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5859796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5859796" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="49" class="mim-anchor"></a>
|
|
<a id="Vedantham2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vedantham, V., Ramasamy, K.
|
|
<strong>Optical coherence tomography in Best's disease: an observational case report.</strong>
|
|
Am. J. Ophthal. 139: 351-353, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15734003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15734003</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15734003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ajo.2004.07.039" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="50" class="mim-anchor"></a>
|
|
<a id="Vossius1921" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vossius, A.
|
|
<strong>Ueber die Bestsche familiaere Maculadegeneration.</strong>
|
|
Arch. Ophthal. 105: 1050-1059, 1921.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="51" class="mim-anchor"></a>
|
|
<a id="Weber1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Weber, B. H. F., Walker, D., Muller, B., Mar, L.
|
|
<strong>Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: no evidence for locus heterogeneity.</strong>
|
|
Genomics 20: 267-274, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8020974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8020974</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8020974" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1994.1163" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="52" class="mim-anchor"></a>
|
|
<a id="Weber1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Weber, B. H. F., Walker, D., Muller, B.
|
|
<strong>Molecular evidence for non-penetrance in Best's disease.</strong>
|
|
J. Med. Genet. 31: 388-392, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8064817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8064817</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8064817" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.31.5.388" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="53" class="mim-anchor"></a>
|
|
<a id="White2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
White, K., Marquardt, A., Weber, B. H. F.
|
|
<strong>VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.</strong>
|
|
Hum. Mutat. 15: 301-308, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10737974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10737974</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10737974" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<301::AID-HUMU1>3.0.CO;2-N" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="54" class="mim-anchor"></a>
|
|
<a id="Wittstrom2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wittstrom, E., Ekvall, S., Schatz, P., Bondeson, M.-L., Ponjavic, V., Andreasson, S.
|
|
<strong>Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.</strong>
|
|
Ophthalmic Genet. 32: 83-96, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21192766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21192766</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21192766" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.3109/13816810.2010.535890" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="55" class="mim-anchor"></a>
|
|
<a id="Yoder1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yoder, F. E., Cross, H. E., Chase, G. A., Fine, S. L., Freidhoff, L., Machan, C. H., Bias, W. B.
|
|
<strong>Linkage studies of Best's macular dystrophy.</strong>
|
|
Clin. Genet. 34: 26-30, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3165727/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3165727</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3165727" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1988.tb02611.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="56" class="mim-anchor"></a>
|
|
<a id="Zhang2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Zhang, Y., Stanton, J. B., Wu, J., Yu, K., Hartzell, H. C., Peachey, N. S., Marmorstein, L. Y., Marmorstein, A. D.
|
|
<strong>Suppression of Ca(2+) signaling in a mouse model of Best disease.</strong>
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Hum. Molec. Genet. 19: 1108-1118, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20053664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20053664</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20053664[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=20053664" 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/10.1093/hmg/ddp583" target="_blank">Full Text</a>]
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Jane Kelly - updated : 2/2/2015
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Marla J. F. O'Neill - updated : 12/30/2014<br>George E. Tiller - updated : 11/10/2011<br>Jane Kelly - updated : 8/16/2011<br>Marla J. F. O'Neill - updated : 1/20/2010<br>Jane Kelly - updated : 5/1/2008<br>Jane Kelly - updated : 4/23/2008<br>Jane Kelly - updated : 12/17/2007<br>Jane Kelly - updated : 11/7/2007<br>Jane Kelly - updated : 12/7/2006<br>Marla J. F. O'Neill - updated : 9/29/2006<br>Jane Kelly - updated : 11/17/2005<br>Cassandra L. Kniffin - reorganized : 10/19/2003<br>Jane Kelly - updated : 3/25/2003<br>Victor A. McKusick - updated : 4/17/2002<br>George E. Tiller - updated : 2/12/2002<br>Victor A. McKusick - updated : 11/30/2000<br>Victor A. McKusick - updated : 4/19/2000<br>Victor A. McKusick - updated : 9/17/1998<br>Victor A. McKusick - updated : 6/25/1998<br>Victor A. McKusick - updated : 3/9/1998<br>Victor A. McKusick - updated : 2/11/1998<br>Victor A. McKusick - updated : 10/14/1997<br>Cynthia K. Ewing - updated : 10/11/1996
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Victor A. McKusick : 6/2/1986
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carol : 12/09/2022
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carol : 08/18/2016<br>carol : 07/09/2016<br>carol : 2/2/2015<br>carol : 1/12/2015<br>carol : 12/30/2014<br>alopez : 11/17/2011<br>terry : 11/10/2011<br>terry : 8/25/2011<br>carol : 8/18/2011<br>terry : 8/16/2011<br>wwang : 1/25/2010<br>terry : 1/20/2010<br>carol : 7/10/2009<br>carol : 11/5/2008<br>carol : 5/1/2008<br>carol : 4/23/2008<br>carol : 12/17/2007<br>carol : 11/7/2007<br>carol : 7/26/2007<br>carol : 12/7/2006<br>carol : 12/7/2006<br>wwang : 10/12/2006<br>wwang : 10/6/2006<br>terry : 9/29/2006<br>carol : 11/17/2005<br>carol : 3/9/2004<br>carol : 10/19/2003<br>ckniffin : 10/14/2003<br>carol : 8/19/2003<br>carol : 8/18/2003<br>cwells : 3/25/2003<br>alopez : 3/11/2003<br>mgross : 4/25/2002<br>terry : 4/17/2002<br>cwells : 2/18/2002<br>cwells : 2/12/2002<br>terry : 3/15/2001<br>mcapotos : 12/12/2000<br>mcapotos : 12/6/2000<br>terry : 11/30/2000<br>mcapotos : 5/19/2000<br>terry : 4/19/2000<br>carol : 12/21/1999<br>carol : 9/21/1998<br>terry : 9/17/1998<br>carol : 8/12/1998<br>alopez : 7/1/1998<br>terry : 6/25/1998<br>alopez : 3/9/1998<br>terry : 3/3/1998<br>alopez : 2/11/1998<br>alopez : 2/11/1998<br>dholmes : 2/4/1998<br>jenny : 10/21/1997<br>terry : 10/14/1997<br>terry : 12/10/1996<br>terry : 11/19/1996<br>jamie : 10/23/1996<br>jamie : 10/16/1996<br>jamie : 10/11/1996<br>mark : 1/30/1996<br>terry : 1/24/1996<br>mark : 1/12/1996<br>carol : 1/18/1995<br>mimadm : 11/6/1994<br>terry : 5/12/1994<br>carol : 10/29/1992<br>carol : 10/27/1992<br>carol : 10/5/1992
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<span class="mim-font">
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<strong>#</strong> 153700
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MACULAR DYSTROPHY, VITELLIFORM, 2; VMD2
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VITELLIFORM MACULAR DYSTROPHY, EARLY-ONSET<br />
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VITELLIFORM MACULAR DYSTROPHY, JUVENILE-ONSET<br />
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BEST MACULAR DYSTROPHY; BMD<br />
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MACULAR DEGENERATION, POLYMORPHIC VITELLINE<br />
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BEST VITELLIFORM MACULAR DYSTROPHY, MULTIFOCAL
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<strong>SNOMEDCT:</strong> 763387005;
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<strong>ORPHA:</strong> 1243;
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<strong>DO:</strong> 0050661;
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<strong>Phenotype-Gene Relationships</strong>
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11q12.3
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Macular dystrophy, vitelliform, 2
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153700
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Autosomal dominant
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3
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BEST1
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607854
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<p>A number sign (#) is used with this entry because vitelliform macular dystrophy-2 (VMD2), also known as Best disease, is caused by heterozygous mutation in the bestrophin gene (BEST1; 607854) on chromosome 11q12.</p>
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<p>Best vitelliform macular dystrophy is an early-onset autosomal dominant disorder characterized by large deposits of lipofuscin-like material in the subretinal space, which creates characteristic macular lesions resembling the yolk of an egg ('vitelliform'). Although the diagnosis of Best disease is often made during the childhood years, it is more frequently made much later and into the sixth decade of life. In addition, the typical egg yolk-like lesion is present only during a limited period in the natural evolution of the disease; later, the affected area becomes deeply and irregularly pigmented and a process called 'scrambling the egg' occurs, at which point the lesion may appear as a 'bull's eye.' The disorder is progressive and loss of vision may occur. A defining characteristic of Best disease is a light peak/dark trough ratio of the electrooculogram (EOG) of less than 1.5, without aberrations in the clinical electroretinogram (ERG). Even otherwise asymptomatic carriers of BEST1 mutations, as assessed by pedigree, will exhibit an altered EOG. Histopathologically, the disease has been shown to manifest as a generalized retinal pigment epithelium (RPE) abnormality associated with excessive lipofuscin accumulation, regions of geographic RPE atrophy, and deposition of abnormal fibrillar material beneath the RPE, similar to drusen. Occasional breaks in the Bruch membrane with accompanying neovascularization have also been reported, although Best disease is not noted for extensive choroidal neovascularization. Many of these features are also found in age-related macular degeneration (see 603075) (summary by Braley, 1966; White et al., 2000; Marmorstein et al., 2000; Leroy, 2012). </p><p>For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (153840).</p>
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<strong>Clinical Features</strong>
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<p>Best (1905) described a family in which 8 persons were affected with hereditary vitelliform macular dystrophy. Follow-up of this family by Vossius (1921) and Jung (1936) increased the number of affected individuals to 22. Friedenwald and Maumenee (1951) observed affected mother and daughter. Davis and Hollenhorst (1955) described a kindred containing at least 24 affected persons in 5 generations. The age of onset of manifest visual disability varied from very early childhood to adolescence. Cystoid macular degeneration was described in a dominant pedigree pattern by Falls (1949) and Sorsby et al. (1956). Vail and Shoch (1965) followed up on an extensively affected kindred and reported histologic findings in a patient who died at 78 years of age. </p><p>Braley and Spivey (1964) examined 27 members of a large 4-generation Iowa family of Dutch ancestry, 10 of whom had vitelline macular degeneration. Onset of disease was before age 10 years in 3 cases, before age 20 in 3, before age 30 in 3, and in the early 30s in 2. At least 4 patients had sudden onset of visual loss that improved to some degree. Good visual acuity was present in some patients despite severe macular changes. In every patient with visual loss, a central scotoma was present that conformed to the position and size of the macular lesion. Dark adaptation was normal in all family members; color vision was normal in all unaffected family members, whereas most affected family members showed red-green deficiency. Braley and Spivey (1964) noted that not all patients exhibit the classic 'sunny side up' vitelliform lesion as the initial stage of macular degeneration. </p><p>In Sweden, Nordstrom and Barkman (1977) and Nordstrom and Thorburn (1980) traced 250 cases of Best disease to one gene source in the 17th century. An apparently homozygous father had 11 children, all of whom were affected. Age of onset varied from early childhood to the 40s and 50s. The electrooculogram (EOG) was helpful in preclinical detection. The range of severity was wide among the 11; indeed, one, aged 24, could be identified only by pathologic EOGs. The homozygotic state did not differ from the heterozygotic state. </p><p>O'Gorman et al. (1988) described the histopathologic findings in the postmortem eyes of a 69-year-old man with this disorder. Retinal pigment epithelial (RPE) cells across the entire fundus had accumulated an excessive amount of lipofuscin as defined by ultrastructural appearance, autofluorescence, and staining properties. An accumulation of heterogeneous material located between Bruch membrane and the pigment epithelium in the fovea was interpreted as representing a previtelliform lesion. The material appeared to be derived from degenerating pigment epithelial cells and contained few intact lipofuscin granules. Foveal photoreceptor loss occurred above the lesion. </p><p>Brecher and Bird (1990) investigated the families of 12 probands who presented with foveal lesions typical of adult vitelliform macular dystrophy and found familial involvement compatible with autosomal dominant inheritance in 10 families. In the remaining 2 families, no familial involvement was detected, but both parents were not available for examination. Over half (14 of 25) of patients with abnormal fundi were asymptomatic, and most had good visual acuity, although 2 patients had visual acuities of less than 20/60 in both eyes. </p><p>Weber et al. (1994) identified a 37-year-old male who appeared to represent nonpenetrance of Best disease because he had inherited the haplotype associated in his family with the disorder, but showed no signs of the disease on repeated examination and EOG. </p><p>By optical coherence tomography (OCT) in a case of BMD, Vedantham and Ramasamy (2005) found that lipofuscin accumulated in a cystic space under the retinal pigment epithelium in the 'pseudohypopyon' stage of the disease, and that disruption of photoreceptors occurred in the 'scrambled egg' stage. The authors suggested that these findings explain the retention of good visual acuity in the pseudohypopyon stage and the loss of visual acuity in the scrambled egg stage. </p><p>Using indocyanine green angiography (ICG), Maruko et al. (2006) observed hyperfluorescent spots throughout the peripheral fundus in all 8 eyes of 4 patients with Best disease. The extensive distribution of the spots was consistent with the wide-ranging abnormalities of the retinal pigment epithelium, Bruch membrane, and choroid that have been observed histopathologically. </p><p>In an eye from a Best disease donor with a T6R mutation in the BEST1 gene, Mullins et al. (2007) found deposits containing lipid and glycoconjugates within the eye's central retinal scar. Immunohistochemical localization of bestrophin in a series of 22 unaffected eyes revealed a pattern in which macular labeling was less robust than labeling outside the macular area in 18 of the 22. Mullins et al. (2007) concluded that topographic differences in the levels of bestrophin protein might in part explain the propensity for the macula to develop lesions. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Mullins et al. (2005) restudied a male patient from the Iowa family of Dutch ancestry originally reported by Braley and Spivey (1964), in which a missense mutation in the BEST1 gene (607854.0004) was identified by Petrukhin et al. (1998). The patient had photographically documented normal maculae at age 51 years, but subsequently developed small vitelliform lesions at age 75 years, followed by widespread flecks in the midperiphery; 2 additional family members exhibited similar multifocal lesions. Histologic examination showed that the flecks represented clusters of vesicular drusen that were less eosinophilic than typical drusen but were otherwise of similar composition. Mullins et al. (2005) noted that vitelliform lesions had been documented to develop as late as 60 years of age in a patient with classic Best disease (Sorr and Goldberg, 1976), and that midperipheral flecks, while uncommon, may be present. Review of 77 consecutive photofiles of patients with a clinical and molecular diagnosis of Best disease revealed 7 patients (9.1%) from 3 unrelated families who also exhibited multifocal lesions consisting of small peripheral flecks. </p><p>Boon et al. (2007) studied 15 unrelated patients with multifocal vitelliform lesions. Age at onset was highly variable, ranging from 5 to 59 years. The peripheral lesions varied in number, size, and overall appearance, but showed similar characteristics on autofluorescence imaging and OCT compared with the central vitelliform lesion. </p><p>Lee et al. (2012) studied 2 unrelated, initially asymptomatic male patients who exhibited incidentally discovered bilateral macular atrophic lesions at age 30 years and 51 years, respectively, with serous retinal detachment in the macula on OCT and multiple leakages around the central hypofluorescent area as well as partially dilated choroidal vessels on fluorescein angiography. The lesions were thought to represent chronic central serous chorioretinopathy but were unresponsive to treatment. Reevaluation revealed yellowish deposits at the border of serous retinal detachment areas; OCT showed hyperreflective lesions between the RPE and outer segment layers of the retina, and fundus autofluorescence (FAF) showed ring-like hyperautofluorescence around the serous retinal detachment. Both patients also had decreased Arden ratios on EOG and were found to have mutations in the BEST1 gene, resulting in a diagnosis of atypical vitelliform macular dystrophy. </p><p>Parodi et al. (2014) studied the fundus autofluorescence patterns in the eyes of 4 patients with a bilateral subclinical form of Best disease (positive testing for BEST1 gene mutation, fully preserved best-corrected visual acuity, normal fundus appearance) and the clinically unaffected eyes of 2 patients with unilateral Best disease. Short-wavelength FAF findings were consistently normal, whereas near-infrared FAF showed an abnormal pattern marked by a central hypoautofluorescence surrounded by a round area of hyperautofluorescence. Microperimetry corroborated the near-infrared FAF pattern. No changes were found in a 24- to 36-month follow-up of the patients. </p>
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<strong>Mapping</strong>
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<p>Definitive mapping of the locus for Best macular dystrophy was achieved by Stone et al. (1992), who studied a 5-generation family with 29 affected persons. Linkage analysis located the gene on chromosome 11q13. Multipoint analysis yielded a maximum lod score of 9.3 for location in the interval between INT2 (FGF3; 164950) and D11S871. Using 8 microsatellite markers, Weber et al. (1994) studied 3 multigenerational Best disease families and refined the localization of the disease gene to a 3.7-cM interval between markers at D11S903 and PYGM (608455). PCR-hybrid mapping sublocalized this interval to the pericentromeric region of chromosome 11. Identification of 3 distinct haplotypes associated with the disease in the 3 families strongly suggested independent origins of the mutations. </p><p>In a large Swedish family with more than 250 cases of Best macular dystrophy (see Nordstrom and Barkman, 1977), descended from a couple born in central Sweden in the 17th century, Forsman et al. (1992) obtained a lod score of 15.12 at a recombination fraction 0.01 for linkage with an INT2 marker on chromosome 11q13. Thus, the gene for rod outer segment protein-1 (ROM1; 180721), which maps to the same region, became the leading candidate for the site of the mutation in this disorder. Stone et al. (1992) likewise demonstrated genetic linkage of Best disease to 11q13, and Bascom et al. (1992) presented evidence that the ROM1 gene may be the site of the mutation in Best disease. Using highly polymorphic markers, Nichols et al. (1994) narrowed the genetic region that contains the Best disease gene to the 10-cM region between markers D11S871 and PYGM. Marker D11S956 demonstrated no recombinants with Best disease in 3 large kindreds and resulted in a lod score of 18.2. </p><p>Using a combination of single-strand conformation polymorphism (SSCP) analysis, denaturing gradient gel electrophoresis, and DNA sequencing to screen the entire coding region of the ROM1 gene in 11 different unrelated patients with Best disease, Nichols et al. (1994) could find no nucleotide changes in the coding sequence of any affected patient. They concluded that mutations within the coding sequence of ROM1 are unlikely to cause Best disease. Graff et al. (1994) localized the VMD2 locus to the 6-cM genetic interval between 2 DNA markers, one of which was associated with ROM1 in a large Swedish 12-generation kindred. Mutation analyses of ROM1 revealed no mutations that could explain the disease phenotype. Furthermore, one recombinant event between intragenic ROM1 polymorphisms and the Best disease phenotype was detected. Thus, ROM1 was excluded as the site of the disease-causing mutations in this kindred. Coding sequence mutations in ROM1 were also excluded by Hou et al. (1996) in 2 affected members of a large 5-generation North American pedigree with Best macular degeneration mapping to 11q. </p><p>By studying the large Swedish VMD2 family dating back to the 17th century (Nordstrom and Barkman, 1977), Graff et al. (1997) refined the VMD2 region to a span of approximately 980 kb flanked by D11S4076 and uteroglobin (UGB; 192020). Stohr et al. (1998), who gave the location of the VMD2 gene as a region of approximately 1.4 Mb on 11q12-q13.1, assembled a high-coverage YAC contig of this region. They constructed a primary transcript map that placed 19 genes within the region. </p><p><strong><em>Genetic Heterogeneity</em></strong></p><p>
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Mansergh et al. (1995) established genetic heterogeneity in this disorder by finding linkage to chromosome 11 in an Irish family and excluding linkage to chromosome 11 in a German family. </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>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>Chacon-Camacho et al. (2011) performed optical coherence tomography (OCT) in symptomatic and asymptomatic individuals from 2 Mexican families segregating Best disease caused by mutation in the BEST1 gene. Symptomatic patients showed severe retinal serous retinal detachment in both families. In 1 family, an 8-year-old carrying a Q293K mutation was demonstrated to have Best disease-related retinal lesions, i.e., bilateral subfoveal lesions and unilateral serous retinal detachment. Conversely, in the other family, an asymptomatic 6-year-old carrying a W24C mutation did not demonstrate retinal abnormalities. Chacon-Camacho et al. (2011) suggested that OCT can be used during early childhood for presymptomatic diagnosis of some cases of the disease. </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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<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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<span class="mim-text-font">
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<p>The transmission pattern of VMD2 in the families studied by Petrukhin et al. (1998) was consistent with autosomal dominant inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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 several Swedish and Dutch families with Best macular dystrophy, including the large Swedish family reported by Nordstrom and Barkman (1977) and studied by Graff et al. (1997), and the Iowa family of Dutch ancestry originally reported by Braley and Spivey (1964), Petrukhin et al. (1998) identified 5 different mutations in the VMD2 gene (607854.0001-607854.0005) that segregated with the disease. </p><p>Caldwell et al. (1999) analyzed the bestrophin gene in 13 families with Best macular dystrophy and identified heterozygous mutations in 9 families, including 6 missense mutations and a 2-bp deletion (607854.0012). In 3 of the families, there was a parent carrying the missense mutation who lacked the clinical phenotype, suggesting variable expression of the disease gene. Caldwell et al. (1999) found no mutations in the bestrophin gene in the large North American family with Best macular dystrophy previously mapped to chromosome 11q by Hou et al. (1996). </p><p>In 2 unrelated women who had vitelliform macular dystrophy diagnosed in the sixth decade of life, Allikmets et al. (1999) identified heterozygous missense mutations in the BEST1 gene (E119Q, 607854.0008 and A146K 607854.0009). </p><p>Kramer et al. (2000) identified several mutations in the VMD2 gene in German patients with macular dystrophy of juvenile and adult onset (see, e.g., 607854.0005 and 607854.0010-607854.0011) and suggested that the adult-onset patients represented a mild form of Best disease. </p><p>White et al. (2000) stated that 48 different mutations, predominantly missense mutations, had been described in the VMD2 gene in Best disease families. </p><p>Schatz et al. (2006) identified mutations in the BEST1 gene in all 6 affected members of a 3-generation Swedish family with Best macular dystrophy. One was heterozygous for an arg141-to-his (R141H; 607854.0013) mutation, 3 were heterozygous for a tyr29-to-ter (Y29X; 607854.0014) mutation, and 2 were compound heterozygous for these mutations. The 2 members who were compound heterozygous had a more severe phenotype. </p><p>In 9 (60%) of 15 unrelated patients with multifocal vitelliform lesions, Boon et al. (2007) identified heterozygosity for mutations in the BEST1 gene (see, e.g., 607854.0005). </p><p>In a 15-year-old proband with multifocal VMD, Wittstrom et al. (2011) identified compound heterozygosity for 2 mutations in the BEST1 gene: the R141H mutation and a de novo P233A substitution. The R141H mutation was present in heterozygosity in her asymptomatic mother and brother, both of whom showed delayed implicit times in a- and b-waves of combined total rod and cone full-field ERG responses. </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>Genotype/Phenotype Correlations</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>Boon et al. (2007) compared the clinical findings in patients with multifocal vitelliform retinal dystrophy with or without mutations in the BEST1 gene. All 9 patients with BEST1 mutations had abnormal EOG findings compared with 2 of 6 patients without BEST1 mutations; in addition, those with a mutation had a highly variable but seemingly younger age at onset and a more pronounced loss of visual acuity. </p><p>Meunier et al. (2014) reviewed 76 families with vitelliform macular dystrophy and found that 24 (53%) of 45 families with onset of disease before 40 years of age had a mutation in the BEST1 gene, whereas 3 (9.7%) of 31 families with onset after 40 years of age had a mutation in the PRPH2 gene (179605). For the remaining 49 families without a mutation in BEST1 or PRPH2, 3 (6%) had a mutation in the IMPG1 gene and 1 (2%) in the IMPG2 gene (607056). Meunier et al. (2014) stated that the IMPG1 and IMPG2 vitelliform macular dystrophies are characterized by late-onset moderate visual impairment, frequent association with drusen-like lesions, preservation of RPE reflectivity, lack of sub-RPE deposits on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on EOG. The authors noted that although patients with a BEST1 mutation were most frequently symptomatic before the age of 40 years, there was overlap with PRPH2 patients in terms of age of onset; in addition, the presence of small satellite drusen-like lesions in the foveal area appeared to implicate the IMPG1 or IMPG2 genes. </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>Animal Model</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 dogs with canine multifocal retinopathy (cmr), which resembles human Best disease, Guziewicz et al. (2007) identified 2 disease-specific sequence alterations in the VMD2 gene: a 73C-T stop mutation (R25X), designated cmr1, and a 482G-A missense mutation (G161D), designated cmr2. Guziewicz et al. (2007) proposed that canine cmr is a relevant animal model for Best disease. </p><p>Zhang et al. (2010) generated knockin mice carrying the Best vitelliform macular dystrophy-causing mutation W93C (607854.0001) in Best1. Both Best1(+/W93C) and Best1(W93C/W93C) mice had normal ERG a- and b-waves, but exhibited an altered light peak luminance response reminiscent of that observed in Best macular dystrophy patients. Morphologic analysis identified fluid- and debris-filled retinal detachments in mice as young as 6 months of age. By 18 to 24 months of age, Best1(+/W93C) and Best1(W93C/W93C) mice exhibited enhanced accumulation of lipofuscin in the retinal pigment epithelium (RPE), and a significant deposition of debris composed of unphagocytosed photoreceptor outer segments and lipofuscin granules in the subretinal space. The RPE cells from Best1(W93C) mice exhibited normal chloride conductances, and ATP-stimulated changes in calcium concentration in RPE cells from Best1(+/W93C) and Best1(W93C/W93C) mice were suppressed relative to Best1 +/+ littermates. The authors hypothesized that Best vitelliform macular dystrophy does not occur because of Best1 deficiency, as the phenotypes of Best1(+/W93C0) and Best1(W93C/W93C) mice are distinct from that of Best1 -/- mice with regard to lipofuscin accumulation and changes in the light peak and ATP calcium responses. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Rivas et al. (1986) proposed that the segment 6q25-qter contained the locus for a dominant macular degeneration. This proposal was based on the finding of macular degeneration in an 8-month-old girl with a de novo deletion of 6q25 and in another case of terminal deletion of 6q reported by Hagemeijer et al. (1977). In linkage studies in 9 kindreds, Yoder et al. (1988) found no firm evidence for linkage with 18 informative markers; the highest positive lod score was 0.57 for glutamate-pyruvate transaminase (GPT; 138200) on chromosome 8q24 at a recombination fraction of 0.30. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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Deutman (1969); Felbor et al. (1997); Francois (1968); Krill et al.
|
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(1966); Maloney et al. (1977); Nordstrom (1980); Rosas (1976)
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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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Allikmets, R., Seddon, J. M., Bernstein, P. S., Hutchinson, A., Atkinson, A., Sharma, S., Gerrard, B., Li, W., Metzker, M. L., Wadelius, C., Caskey, C. T., Dean, M., Petrukhin, K.
|
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<strong>Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies.</strong>
|
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Hum. Genet. 104: 449-453, 1999.
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[PubMed: 10453731]
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[Full Text: https://doi.org/10.1007/s004390050986]
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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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Bascom, R. A., Liu, L., Chen, J., Duncan, A., Kimberling, W. J., Moller, C. G., Humphries, P., Nathans, J., McInnes, R. R.
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<strong>ROM1: a candidate gene for autosomal dominant retinitis pigmentosa (ADRP), Usher syndrome type 1, and Best vitelliform macular dystrophy. (Abstract)</strong>
|
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Am. J. Hum. Genet. 51 (suppl.): A6, 1992.
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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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Best, F.
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<strong>Ueber eine hereditaere Maculaaffektion.</strong>
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Z. Augenheilk. 13: 199-212, 1905.
|
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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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Boon, C. J. F., Klevering, B. J., den Hollander, A. I., Zonneveld, M. N., Theelen, T., Cremers, F. P. M., Hoyng, C. B.
|
|
<strong>Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.</strong>
|
|
Arch. Ophthal. 125: 1100-1106, 2007.
|
|
|
|
|
|
[PubMed: 17698758]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.125.8.1100]
|
|
|
|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Braley, A. E., Spivey, B. E.
|
|
<strong>Hereditary vitelline macular degeneration: a clinical and functional evaluation of a new pedigree with variable expressivity and dominant inheritance.</strong>
|
|
Arch. Ophthal. 72: 743-762, 1964.
|
|
|
|
|
|
[PubMed: 14205432]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.1964.00970020743003]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Braley, A. E.
|
|
<strong>Dystrophy of the macula.</strong>
|
|
Am. J. Ophthal. 61: 1-24, 1966.
|
|
|
|
|
|
[PubMed: 5904376]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9394(66)90741-0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Brecher, R., Bird, A. C.
|
|
<strong>Adult vitelliform macular dystrophy.</strong>
|
|
Eye 4: 210-215, 1990.
|
|
|
|
|
|
[PubMed: 2323472]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/eye.1990.28]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Caldwell, G. M., Kakuk, L. E., Griesinger, I. B., Simpson, S. A., Nowak, N. J., Small, K. W., Maumenee, I. H., Rosenfeld, P. J., Sieving, P. A., Shows, T. B., Ayyagari, R.
|
|
<strong>Bestrophin gene mutations in patients with Best vitelliform macular dystrophy.</strong>
|
|
Genomics 58: 98-101, 1999.
|
|
|
|
|
|
[PubMed: 10331951]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1999.5808]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Chacon-Camacho, O. F., Camarillo-Blancarte, L., Zenteno, J. C.
|
|
<strong>OCT findings in young asymptomatic subjects carrying familial BEST1 gene mutations.</strong>
|
|
Ophthalmic Genet. 32: 24-30, 2011.
|
|
|
|
|
|
[PubMed: 21077756]
|
|
|
|
|
|
[Full Text: https://doi.org/10.3109/13816810.2010.524906]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Davis, C. T., Hollenhorst, R. W.
|
|
<strong>Hereditary degeneration of the macula: occurring in five generations.</strong>
|
|
Am. J. Ophthal. 39: 637-643, 1955.
|
|
|
|
|
|
[PubMed: 14361622]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9394(55)90035-0]
|
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|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
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|
<p class="mim-text-font">
|
|
Deutman, A. F.
|
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<strong>Electro-oculography in families with vitelliform dystrophy of the fovea: detection of the carrier state.</strong>
|
|
Arch. Ophthal. 81: 305-316, 1969.
|
|
|
|
|
|
[PubMed: 5774285]
|
|
|
|
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|
[Full Text: https://doi.org/10.1001/archopht.1969.00990010307001]
|
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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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Falls, H. F.
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<strong>Hereditary congenital macular degeneration.</strong>
|
|
Am. J. Hum. Genet. 1: 96-104, 1949.
|
|
|
|
|
|
[PubMed: 17948388]
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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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Felbor, U., Schilling, H., Weber, B. H. F.
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<strong>Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.</strong>
|
|
Hum. Mutat. 10: 301-309, 1997.
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|
|
|
|
|
[PubMed: 9338584]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1997)10:4<301::AID-HUMU6>3.0.CO;2-J]
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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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Forsman, K., Graff, C., Nordstrom, S., Johansson, K., Westermark, E., Lundgren, E., Gustavson, K.-H., Wadelius, C., Holmgren, G.
|
|
<strong>The gene for Best's macular dystrophy is located at 11q13 in a Swedish family.</strong>
|
|
Clin. Genet. 42: 156-159, 1992.
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[PubMed: 1395087]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1992.tb03229.x]
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</p>
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</li>
|
|
|
|
<li>
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<p class="mim-text-font">
|
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Francois, J.
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<strong>Vitelliform degeneration of the macula.</strong>
|
|
Bull. N.Y. Acad. Med. 44: 18-27, 1968.
|
|
|
|
|
|
[PubMed: 5239149]
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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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Friedenwald, J. S., Maumenee, A. E.
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<strong>Peculiar macular lesions with unaccountably good vision.</strong>
|
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Arch. Ophthal. 45: 567-570, 1951.
|
|
|
|
|
|
[PubMed: 14829117]
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[Full Text: https://doi.org/10.1001/archopht.1951.01700010579009]
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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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Graff, C., Eriksson, A., Forsman, K., Sandgren, O., Holmgren, G., Wadelius, C.
|
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<strong>Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids.</strong>
|
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Hum. Genet. 101: 263-270, 1997.
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[PubMed: 9439653]
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[Full Text: https://doi.org/10.1007/s004390050627]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Graff, C., Forsman, K., Larsson, C., Nordstrom, S., Lind, L., Johansson, K., Sandgren, O., Weissenbach, J., Holmgren, G., Gustavson, K.-H., Wadelius, C.
|
|
<strong>Fine mapping of Best's macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci.</strong>
|
|
Genomics 24: 425-434, 1994.
|
|
|
|
|
|
[PubMed: 7713492]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1994.1648]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Guziewicz, K. E., Zangerl, B., Lindauer, S. J., Mullins, R. F., Sandmeyer, L. S., Grahn, B. H., Stone, E. M., Acland, G. M., Aguirre, G. D.
|
|
<strong>Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for Best disease.</strong>
|
|
Invest. Ophthal. Vis. Sci. 48: 1959-1967, 2007.
|
|
|
|
|
|
[PubMed: 17460247]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1167/iovs.06-1374]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hagemeijer, A., Hoovers, J., Smit, E. M. E., Bootsma, D.
|
|
<strong>Replication pattern of the X chromosomes in three X/autosomal translocations.</strong>
|
|
Cytogenet. Cell Genet. 18: 333-348, 1977.
|
|
|
|
|
|
[PubMed: 884969]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000130780]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hou, Y.-C., Richards, J. E., Bingham, E. L., Pawar, H., Scott, K., Segal, M., Lunetta, K. L., Boehnke, M., Sieving, P. A.
|
|
<strong>Linkage study of Best's vitelliform macular dystrophy (VMD2) in a large North American family.</strong>
|
|
Hum. Hered. 46: 211-220, 1996.
|
|
|
|
|
|
[PubMed: 8807324]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1159/000154356]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jung, E. E.
|
|
<strong>Ueber eine Sippe mit angeborener Maculadegeneration.</strong>
|
|
Giessen: Seibert (pub.) 1936.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kramer, F., White, K., Pauleikhoff, D., Gehrig, A., Passmore, L., Rivera, A., Rudolph, G., Kellner, U., Andrassi, M., Lorenz, B., Rohrschneider, K., Blankenagel, A., Jurklies, B., Schilling, H., Schutt, F., Holz, F. G., Weber, B. H. F.
|
|
<strong>Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.</strong>
|
|
Europ. J. Hum. Genet. 8: 286-292, 2000.
|
|
|
|
|
|
[PubMed: 10854112]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5200447]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Krill, A. E., Morse, P. A., Potts, A. M., Klien, B. A.
|
|
<strong>Hereditary vitelliruptive macular degeneration.</strong>
|
|
Am. J. Ophthal. 61: 1405-1415, 1966.
|
|
|
|
|
|
[PubMed: 5938308]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9394(66)90478-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lee, Y. S., Kim, E.-S., Kim, M., Kim, Y.-G., Kwak, H.-W., Yu, S.-Y.
|
|
<strong>Atypical vitelliform macular dystrophy misdiagnosed as chronic central serous chorioretinopathy: case reports.</strong>
|
|
BMC Ophthal. 12: 25, 2012. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 22817759]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1186/1471-2415-12-25]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Leroy, B. P.
|
|
<strong>Bestrophinopathies. In: Traboulsi, E. I. (ed.): Genetic Diseases of the Eye. (2nd ed.)</strong>
|
|
New York: Oxford Univ. Press (pub.) 2012. Pp. 426-436.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Maloney, W. F., Robertson, D. M., Miller, S. A.
|
|
<strong>Hereditary vitelliform macular degeneration--variable fundus findings within a single pedigree.</strong>
|
|
Arch. Ophthal. 95: 979-983, 1977.
|
|
|
|
|
|
[PubMed: 869756]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.1977.04450060065003]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mansergh, F. C., Kenna, P. F., Rudolph, G., Meitinger, T., Farrar, G. J., Kumar-Singh, R., Scorer, J., Hally, A. M., Mynett-Johnson, L., Humphries, M. M., Kiang, S., Humphries, P.
|
|
<strong>Evidence for genetic heterogeneity in Best's vitelliform macular dystrophy.</strong>
|
|
J. Med. Genet. 32: 855-858, 1995.
|
|
|
|
|
|
[PubMed: 8592326]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.32.11.855]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Marmorstein, A. D., Marmorstein, L. Y., Rayborn, M., Wang, X., Hollyfield, J. G., Petrukhin, K.
|
|
<strong>Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium.</strong>
|
|
Proc. Nat. Acad. Sci. 97: 12758-12763, 2000.
|
|
|
|
|
|
[PubMed: 11050159]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.220402097]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Maruko, I., Iida, T., Spaide, R. F., Kishi, S.
|
|
<strong>Indocyanine green angiography abnormality of the periphery in vitelliform macular dystrophy.</strong>
|
|
Am. J. Ophthal. 141: 976-978, 2006.
|
|
|
|
|
|
[PubMed: 16678528]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajo.2005.12.046]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Meunier, I., Manes, G., Bocquet, B., Marquette, V., Baudoin, C., Puech, B., Defoort-Dhellemmes, S., Audo, I., Verdet, R., Arndt, C., Zanlonghi, X., Le Meur, G., Dhaenens, C.-M., Hamel, C. P.
|
|
<strong>Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.</strong>
|
|
Ophthalmology 121: 2406-2414, 2014.
|
|
|
|
|
|
[PubMed: 25085631]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ophtha.2014.06.028]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mullins, R. F., Kuehn, M. H., Faidley, E. A., Syed, N. A., Stone, E. M.
|
|
<strong>Differential macular and peripheral expression of bestrophin in human eyes and its implications for Best disease.</strong>
|
|
Invest. Ophthal. Vis. Sci. 48: 3372-3380, 2007.
|
|
|
|
|
|
[PubMed: 17591911]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1167/iovs.06-0868]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mullins, R. F., Oh, K. T., Heffron, E., Hageman, G. S., Stone, E. M.
|
|
<strong>Late development of vitelliform lesions and flecks in a patient with Best disease: clinicopathologic correlation.</strong>
|
|
Arch. Ophthal. 123: 1588-1594, 2005.
|
|
|
|
|
|
[PubMed: 16286623]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.123.11.1588]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nichols, B. E., Bascom, R., Litt, M., McInnes, R., Sheffield, V. C., Stone, E. M.
|
|
<strong>Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.</strong>
|
|
Am. J. Hum. Genet. 54: 95-103, 1994.
|
|
|
|
|
|
[PubMed: 8279475]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nordstrom, S., Barkman, Y.
|
|
<strong>Hereditary macular degeneration (HMD) in 246 cases traced to one gene-source in central Sweden.</strong>
|
|
Hereditas 84: 163-176, 1977.
|
|
|
|
|
|
[PubMed: 838599]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1601-5223.1977.tb01394.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nordstrom, S., Thorburn, W.
|
|
<strong>Dominantly inherited macular degeneration (Best's disease) in a homozygous father with 11 children.</strong>
|
|
Clin. Genet. 18: 211-216, 1980.
|
|
|
|
|
|
[PubMed: 7438501]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1111/j.1399-0004.1980.tb00874.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nordstrom, S.
|
|
<strong>Epidemiological studies of hereditary macular degeneration (Best's disease) in Swedish and Swedish-American populations. In: Eriksson, A. W.; Forsius, H. R.; Nevanlinna, H. R.; Workman, P. L.; Norio, R. K.: Population Structure and Genetic Disorders.</strong>
|
|
New York: Academic Press (pub.) 1980. Pp. 431-443.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
O'Gorman, S., Flaherty, W. A., Fishman, G. A., Berson, E. L.
|
|
<strong>Histopathologic findings in Best's vitelliform macular dystrophy.</strong>
|
|
Arch. Ophthal. 106: 1261-1268, 1988.
|
|
|
|
|
|
[PubMed: 3415551]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archopht.1988.01060140421045]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Parodi, M. B., Iacono, P., Del Turco, C., Bandello, F.
|
|
<strong>Near-infrared fundus autofluorescence in subclinical Best vitelliform macular dystrophy.</strong>
|
|
Am. J. Ophthal. 158: 1247-1252, 2014.
|
|
|
|
|
|
[PubMed: 25174897]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajo.2014.08.028]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Petrukhin, K., Koisti, M. J., Bakall, B., Li, W., Xie, G., Marknell, T., Sandgren, O., Forsman, K., Holmgren, G., Andreasson, S., Vujic, M., Bergen, A. A. B., McGarty-Dugan, V., Figueroa, D., Austin, C. P., Metzker, M. L., Caskey, C. T., Wadelius, C.
|
|
<strong>Identification of the gene responsible for Best macular dystrophy.</strong>
|
|
Nature Genet. 19: 241-247, 1998.
|
|
|
|
|
|
[PubMed: 9662395]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/915]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rivas, F., Ruiz, C., Rivera, H., Moller, M., Serrano-Lucas, J. I., Cantu, J. M.
|
|
<strong>De novo del(6)(q25) associated with macular degeneration.</strong>
|
|
Ann. Genet. 29: 42-44, 1986.
|
|
|
|
|
|
[PubMed: 3487275]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Rosas, F. E.
|
|
<strong>Maculopatia hereditaria viteliforme de Best.</strong>
|
|
Ann. Soc. Mex. Oft. 50: 157-171, 1976.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schatz, P., Klar, J., Andreasson, S., Ponjavic, V., Dahl, N.
|
|
<strong>Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutation in VMD2.</strong>
|
|
Ophthal. Genet. 27: 51-56, 2006.
|
|
|
|
|
|
[PubMed: 16754206]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1080/13816810600677990]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sorr, E. M., Goldberg, R. E.
|
|
<strong>Vitelliform dystrophy in a 64-year-old man.</strong>
|
|
Am. J. Ophthal. 82: 256-258, 1976.
|
|
|
|
|
|
[PubMed: 949078]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0002-9394(76)90429-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sorsby, A., Savory, M., Davey, J. B., Fraser, R. J. L.
|
|
<strong>Macular cysts: a dominantly inherited affection with a progressive course.</strong>
|
|
Brit. J. Ophthal. 40: 144-158, 1956.
|
|
|
|
|
|
[PubMed: 13315939]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/bjo.40.3.144]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stohr, H., Marquardt, A., Rivera, A., Cooper, P. R., Nowak, N. J., Shows, T. B., Gerhard, D. S., Weber, B. H. F.
|
|
<strong>A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1.</strong>
|
|
Genome Res. 8: 48-56, 1998.
|
|
|
|
|
|
[PubMed: 9445487]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1101/gr.8.1.48]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Stone, E. M., Nichols, B. E., Streb, L. M., Kimura, A. E., Sheffield, V. C.
|
|
<strong>Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.</strong>
|
|
Nature Genet. 1: 246-250, 1992.
|
|
|
|
|
|
[PubMed: 1302019]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0792-246]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vail, D., Shoch, D.
|
|
<strong>Hereditary degeneration of the macula. II. Follow-up report and histopathologic study.</strong>
|
|
Trans. Am. Ophthal. Soc. 63: 51-63, 1965.
|
|
|
|
|
|
[PubMed: 5859796]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vedantham, V., Ramasamy, K.
|
|
<strong>Optical coherence tomography in Best's disease: an observational case report.</strong>
|
|
Am. J. Ophthal. 139: 351-353, 2005.
|
|
|
|
|
|
[PubMed: 15734003]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajo.2004.07.039]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vossius, A.
|
|
<strong>Ueber die Bestsche familiaere Maculadegeneration.</strong>
|
|
Arch. Ophthal. 105: 1050-1059, 1921.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weber, B. H. F., Walker, D., Muller, B., Mar, L.
|
|
<strong>Best's vitelliform dystrophy (VMD2) maps between D11S903 and PYGM: no evidence for locus heterogeneity.</strong>
|
|
Genomics 20: 267-274, 1994.
|
|
|
|
|
|
[PubMed: 8020974]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1994.1163]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Weber, B. H. F., Walker, D., Muller, B.
|
|
<strong>Molecular evidence for non-penetrance in Best's disease.</strong>
|
|
J. Med. Genet. 31: 388-392, 1994.
|
|
|
|
|
|
[PubMed: 8064817]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.31.5.388]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
White, K., Marquardt, A., Weber, B. H. F.
|
|
<strong>VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies.</strong>
|
|
Hum. Mutat. 15: 301-308, 2000.
|
|
|
|
|
|
[PubMed: 10737974]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/(SICI)1098-1004(200004)15:4<301::AID-HUMU1>3.0.CO;2-N]
|
|
|
|
|
|
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Wittstrom, E., Ekvall, S., Schatz, P., Bondeson, M.-L., Ponjavic, V., Andreasson, S.
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<strong>Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1.</strong>
|
|
Ophthalmic Genet. 32: 83-96, 2011.
|
|
|
|
|
|
[PubMed: 21192766]
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|
|
|
|
[Full Text: https://doi.org/10.3109/13816810.2010.535890]
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Yoder, F. E., Cross, H. E., Chase, G. A., Fine, S. L., Freidhoff, L., Machan, C. H., Bias, W. B.
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<strong>Linkage studies of Best's macular dystrophy.</strong>
|
|
Clin. Genet. 34: 26-30, 1988.
|
|
|
|
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[PubMed: 3165727]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1988.tb02611.x]
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Zhang, Y., Stanton, J. B., Wu, J., Yu, K., Hartzell, H. C., Peachey, N. S., Marmorstein, L. Y., Marmorstein, A. D.
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<strong>Suppression of Ca(2+) signaling in a mouse model of Best disease.</strong>
|
|
Hum. Molec. Genet. 19: 1108-1118, 2010.
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[PubMed: 20053664]
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[Full Text: https://doi.org/10.1093/hmg/ddp583]
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Jane Kelly - updated : 2/2/2015<br>Marla J. F. O'Neill - updated : 12/30/2014<br>George E. Tiller - updated : 11/10/2011<br>Jane Kelly - updated : 8/16/2011<br>Marla J. F. O'Neill - updated : 1/20/2010<br>Jane Kelly - updated : 5/1/2008<br>Jane Kelly - updated : 4/23/2008<br>Jane Kelly - updated : 12/17/2007<br>Jane Kelly - updated : 11/7/2007<br>Jane Kelly - updated : 12/7/2006<br>Marla J. F. O'Neill - updated : 9/29/2006<br>Jane Kelly - updated : 11/17/2005<br>Cassandra L. Kniffin - reorganized : 10/19/2003<br>Jane Kelly - updated : 3/25/2003<br>Victor A. McKusick - updated : 4/17/2002<br>George E. Tiller - updated : 2/12/2002<br>Victor A. McKusick - updated : 11/30/2000<br>Victor A. McKusick - updated : 4/19/2000<br>Victor A. McKusick - updated : 9/17/1998<br>Victor A. McKusick - updated : 6/25/1998<br>Victor A. McKusick - updated : 3/9/1998<br>Victor A. McKusick - updated : 2/11/1998<br>Victor A. McKusick - updated : 10/14/1997<br>Cynthia K. Ewing - updated : 10/11/1996
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Victor A. McKusick : 6/2/1986
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