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Entry
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- %153840 - MACULAR DYSTROPHY, VITELLIFORM, 1; VMD1
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- OMIM
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<p>
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<span class="h4">%153840</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/153840"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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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="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<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 id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=7438" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+7438" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/7438" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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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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<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=14017&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/4404" 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.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99000" 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 style="display: table-row">
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<div style="display: table-cell;">Animal Models</div>
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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div><a href="http://www.informatics.jax.org/disease/153840" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID: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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 99000<br />
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<strong>DO:</strong> 0050661<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description or locus, molecular basis unknown">
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<span class="text-danger"><strong>%</strong></span>
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153840
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</span>
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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, 1; VMD1
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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MACULAR DYSTROPHY, ATYPICAL VITELLIFORM
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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 class="btn-group ">
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<a href="/clinicalSynopsis/153840" 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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<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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<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/153840" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/153840" 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 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>
|
|
</span>
|
|
</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
|
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|
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- 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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|
|
- Decreased visual acuity (in some patients) <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 /> -
|
|
Macular or extramacular punctate yellow lesions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011688</a>]</span><br /> -
|
|
Vitelliform ('egg-yolk') deposits, macular or multifocal (in some patients)<br /> -
|
|
Visual field defects (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12184005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12184005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.40</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/368.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887875&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887875</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001123" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001123</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001123" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001123</a>]</span><br /> -
|
|
Tritan color vision defect, complete or partial (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011690&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011690</a>]</span><br /> -
|
|
Normal or reduced electrooculographic (EOG) results <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011691</a>]</span><br /> -
|
|
Yellow lesions hypofluorescent on angiography <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011692&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011692</a>]</span><br /> -
|
|
Retinal pigment epithelial defects in the temporal nerve fiber bundle <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011693&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011693</a>]</span><br /> -
|
|
Temporal nerve fiber bundle defects hyperfluorescent on angiography <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4011694&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4011694</a>]</span><br />
|
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|
|
</span>
|
|
</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>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Complete penetrance but extreme variability of phenotypic expression<br /> -
|
|
Variable age of onset<br /> -
|
|
Variable rate of progression<br /> -
|
|
Some patients exhibit minimal central lesions with severe peripheral lesions, and vice-versa<br /> -
|
|
Visual field and color defects invariably present only in patients with advanced loss of vision<br /> -
|
|
Some patients with advanced loss of vision have normal EOG<br /> -
|
|
Based on 1 5-generation family (last curated January 2015)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<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">
|
|
<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>
|
|
<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>
|
|
|
|
</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>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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>
|
|
</td>
|
|
</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>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607854"> 607854 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
Not Mapped
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/153840"> Macular dystrophy, vitelliform, 1 </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">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/153840"> 153840 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/153840"> VMD1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/153840"> 153840 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
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<p>Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by <a href="#4" class="mim-tip-reference" title="Manes, G., Meunier, I., Avila-Fernandez, A., Banfi, S., Le Meur, G., Zanlonghi, X., Corton, M., Simonelli, F., Brabet, P., Labesse, G., Audo, I., Mohand-Said, S., and 16 others. <strong>Mutations in IMPG1 cause vitelliform macular dystrophies.</strong> Am. J. Hum. Genet. 93: 571-578, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23993198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23993198</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23993198[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/10.1016/j.ajhg.2013.07.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23993198">Manes et al., 2013</a>). In contrast to typical VMD (see <a href="/entry/153700">153700</a>), patients with atypical VMD may exhibit normal electrooculography, even when severe loss of vision is present, and fluorescein angiography is thus the most reliable test for identifying affected individuals (<a href="#2" class="mim-tip-reference" title="Hittner, H. M., Ferrell, R. E., Borda, R. P., Justice, J., Jr. <strong>Atypical vitelliform macular dystrophy in a 5-generation family.</strong> Brit. J. Ophthal. 68: 199-207, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6607743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6607743</a>] [<a href="https://doi.org/10.1136/bjo.68.3.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6607743">Hittner et al., 1984</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6607743+23993198" 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 of Vitelliform Macular Dystrophy</em></strong></p><p>
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See also vitelliform macular dystrophy-2 (VMD2; <a href="/entry/153700">153700</a>), caused by mutation in the BEST1 gene (<a href="/entry/607854">607854</a>) on chromosome 11q12; VMD3 (<a href="/entry/608161">608161</a>), caused by mutation in the PRPH2 gene (<a href="/entry/179605">179605</a>) on chromosome 6p21; VMD4 (<a href="/entry/616151">616151</a>), caused by mutation in the IMPG1 gene (<a href="/entry/602870">602870</a>) on chromosome 6q14; and VMD5 (<a href="/entry/616152">616152</a>), caused by mutation in the IMPG2 gene (<a href="/entry/607056">607056</a>) on chromosome 3q12.</p>
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<p><a href="#1" class="mim-tip-reference" title="Ferrell, R. E., Hittner, H. M., Antoszyk, J. H. <strong>Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus.</strong> Am. J. Hum. Genet. 35: 78-84, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6823974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6823974</a>]" pmid="6823974">Ferrell et al. (1983)</a> reported a large family segregating autosomal dominant atypical vitelliform macular dystrophy. In this family, fluorescein angiography was more helpful than electrooculogram (EOG) in ascertaining affected persons. Early signs were minimal angiographic changes in the macula and peripapillary region, and small yellow lesions in the macula and periphery. Moderate accumulations of the yellow material in the central and peripheral retina, and advanced depigmented lesions of the central and peripheral retina and peripapillary region were also documented in family members. These findings were similar to those in typical vitelliform macular dystrophy (<a href="/entry/153700">153700</a>), which involves the retinal pigment epithelium (RPE) and invariably has an abnormal EOG. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6823974" 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="#2" class="mim-tip-reference" title="Hittner, H. M., Ferrell, R. E., Borda, R. P., Justice, J., Jr. <strong>Atypical vitelliform macular dystrophy in a 5-generation family.</strong> Brit. J. Ophthal. 68: 199-207, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6607743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6607743</a>] [<a href="https://doi.org/10.1136/bjo.68.3.199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6607743">Hittner et al. (1984)</a> reported further on the 5-generation family studied by <a href="#1" class="mim-tip-reference" title="Ferrell, R. E., Hittner, H. M., Antoszyk, J. H. <strong>Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus.</strong> Am. J. Hum. Genet. 35: 78-84, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6823974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6823974</a>]" pmid="6823974">Ferrell et al. (1983)</a>. Forty-three of 101 at-risk members were affected (43%). Vision varied from 20/20 to 20/200. EOG studies were normal or reduced and did not correlate with visual acuity. Retinal findings consisted of macular or extramacular punctate yellow lesions or both in the RPE, which were hypofluorescent by angiography. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6607743+6823974" 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>This form of VMD was erroneously reported as being linked to the soluble GPT1 locus (<a href="/entry/138200">138200</a>), which had provisionally been mapped to chromosome 16p, by <a href="#1" class="mim-tip-reference" title="Ferrell, R. E., Hittner, H. M., Antoszyk, J. H. <strong>Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus.</strong> Am. J. Hum. Genet. 35: 78-84, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6823974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6823974</a>]" pmid="6823974">Ferrell et al. (1983)</a>. They found a maximum lod score of 4.34 at a recombination fraction of 0.05. However, the lods for PGP (<a href="/entry/172280">172280</a>), which is on 16p, and for haptoglobin (<a href="/entry/140100">140100</a>), which is on 16q, were negative and not significantly positive, respectively. With the mapping of GPT1 to 8q24, <a href="#6" class="mim-tip-reference" title="Sohocki, M. M., Sullivan, L. S., Mintz-Hittner, A., Small, K., Ferrell, R. E., Daiger, S. P. <strong>Exclusion of atypical vitelliform macular dystrophy from 8q24.3 and from other known macular degenerative loci. (Letter)</strong> Am. J. Hum. Genet. 61: 239-241, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9246008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9246008</a>] [<a href="https://doi.org/10.1016/S0002-9297(07)64299-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9246008">Sohocki et al. (1997)</a> reexamined the localization of the VMD1 locus in the family reported by <a href="#1" class="mim-tip-reference" title="Ferrell, R. E., Hittner, H. M., Antoszyk, J. H. <strong>Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus.</strong> Am. J. Hum. Genet. 35: 78-84, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6823974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6823974</a>]" pmid="6823974">Ferrell et al. (1983)</a>. Using a newly developed PCR-RFLP assay for GPT typing, they corrected the GPT types of several individuals from the original study and found no linkage between VMD1 and GPT1. <a href="#6" class="mim-tip-reference" title="Sohocki, M. M., Sullivan, L. S., Mintz-Hittner, A., Small, K., Ferrell, R. E., Daiger, S. P. <strong>Exclusion of atypical vitelliform macular dystrophy from 8q24.3 and from other known macular degenerative loci. (Letter)</strong> Am. J. Hum. Genet. 61: 239-241, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9246008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9246008</a>] [<a href="https://doi.org/10.1016/S0002-9297(07)64299-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9246008">Sohocki et al. (1997)</a> also excluded linkage of VMD1 with known autosomal dominant macular dystrophy loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9246008+6823974" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="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 (<a href="/entry/607854">607854</a>), 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="#5" 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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<a href="#Leroy2012" 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.">Leroy (2012)</a>
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Ferrell, R. E., Hittner, H. M., Antoszyk, J. H.
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<strong>Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus.</strong>
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Am. J. Hum. Genet. 35: 78-84, 1983.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6823974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6823974</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6823974" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Atypical vitelliform macular dystrophy in a 5-generation family.</strong>
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Brit. J. Ophthal. 68: 199-207, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6607743/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6607743</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6607743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Bestrophinopathies. In: Traboulsi, E. I. (ed.): Genetic Diseases of the Eye. (2nd ed.)</strong>
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<strong>Mutations in IMPG1 cause vitelliform macular dystrophies.</strong>
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Am. J. Hum. Genet. 93: 571-578, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23993198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23993198</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23993198[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=23993198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2013.07.018" target="_blank">Full Text</a>]
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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.
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<strong>Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.</strong>
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Ophthalmology 121: 2406-2414, 2014.
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[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>]
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[<a href="https://doi.org/10.1016/j.ophtha.2014.06.028" target="_blank">Full Text</a>]
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Sohocki, M. M., Sullivan, L. S., Mintz-Hittner, A., Small, K., Ferrell, R. E., Daiger, S. P.
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<strong>Exclusion of atypical vitelliform macular dystrophy from 8q24.3 and from other known macular degenerative loci. (Letter)</strong>
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Am. J. Hum. Genet. 61: 239-241, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9246008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9246008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9246008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/S0002-9297(07)64299-2" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 12/30/2014
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Carol A. Bocchini - updated : 11/5/2008<br>Cassandra L. Kniffin - updated : 10/14/2003
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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carol : 12/09/2022
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carol : 07/09/2016<br>carol : 12/30/2014<br>carol : 11/5/2008<br>joanna : 3/18/2004<br>carol : 10/19/2003<br>ckniffin : 10/14/2003<br>carol : 8/12/1998<br>mimadm : 11/6/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>carol : 2/2/1988
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<strong>%</strong> 153840
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MACULAR DYSTROPHY, VITELLIFORM, 1; VMD1
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MACULAR DYSTROPHY, ATYPICAL VITELLIFORM
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<strong>ORPHA:</strong> 99000;
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<strong>DO:</strong> 0050661;
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<p>Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by Manes et al., 2013). In contrast to typical VMD (see 153700), patients with atypical VMD may exhibit normal electrooculography, even when severe loss of vision is present, and fluorescein angiography is thus the most reliable test for identifying affected individuals (Hittner et al., 1984). </p><p><strong><em>Genetic Heterogeneity of Vitelliform Macular Dystrophy</em></strong></p><p>
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See also vitelliform macular dystrophy-2 (VMD2; 153700), caused by mutation in the BEST1 gene (607854) on chromosome 11q12; VMD3 (608161), caused by mutation in the PRPH2 gene (179605) on chromosome 6p21; VMD4 (616151), caused by mutation in the IMPG1 gene (602870) on chromosome 6q14; and VMD5 (616152), caused by mutation in the IMPG2 gene (607056) on chromosome 3q12.</p>
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<strong>Clinical Features</strong>
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<p>Ferrell et al. (1983) reported a large family segregating autosomal dominant atypical vitelliform macular dystrophy. In this family, fluorescein angiography was more helpful than electrooculogram (EOG) in ascertaining affected persons. Early signs were minimal angiographic changes in the macula and peripapillary region, and small yellow lesions in the macula and periphery. Moderate accumulations of the yellow material in the central and peripheral retina, and advanced depigmented lesions of the central and peripheral retina and peripapillary region were also documented in family members. These findings were similar to those in typical vitelliform macular dystrophy (153700), which involves the retinal pigment epithelium (RPE) and invariably has an abnormal EOG. </p><p>Hittner et al. (1984) reported further on the 5-generation family studied by Ferrell et al. (1983). Forty-three of 101 at-risk members were affected (43%). Vision varied from 20/20 to 20/200. EOG studies were normal or reduced and did not correlate with visual acuity. Retinal findings consisted of macular or extramacular punctate yellow lesions or both in the RPE, which were hypofluorescent by angiography. </p>
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<p>This form of VMD was erroneously reported as being linked to the soluble GPT1 locus (138200), which had provisionally been mapped to chromosome 16p, by Ferrell et al. (1983). They found a maximum lod score of 4.34 at a recombination fraction of 0.05. However, the lods for PGP (172280), which is on 16p, and for haptoglobin (140100), which is on 16q, were negative and not significantly positive, respectively. With the mapping of GPT1 to 8q24, Sohocki et al. (1997) reexamined the localization of the VMD1 locus in the family reported by Ferrell et al. (1983). Using a newly developed PCR-RFLP assay for GPT typing, they corrected the GPT types of several individuals from the original study and found no linkage between VMD1 and GPT1. Sohocki et al. (1997) also excluded linkage of VMD1 with known autosomal dominant macular dystrophy loci. </p>
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<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 (607854), 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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<strong>See Also:</strong>
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Leroy (2012)
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<strong>REFERENCES</strong>
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Ferrell, R. E., Hittner, H. M., Antoszyk, J. H.
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<strong>Linkage of atypical vitelliform macular dystrophy (VMD-1) to the soluble glutamate pyruvate transaminase (GPT1) locus.</strong>
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Am. J. Hum. Genet. 35: 78-84, 1983.
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[PubMed: 6823974]
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Hittner, H. M., Ferrell, R. E., Borda, R. P., Justice, J., Jr.
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<strong>Atypical vitelliform macular dystrophy in a 5-generation family.</strong>
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Brit. J. Ophthal. 68: 199-207, 1984.
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[PubMed: 6607743]
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[Full Text: https://doi.org/10.1136/bjo.68.3.199]
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Leroy, B. P.
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<strong>Bestrophinopathies. In: Traboulsi, E. I. (ed.): Genetic Diseases of the Eye. (2nd ed.)</strong>
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New York: Oxford Univ. Press (pub.) 2012. Pp. 426-436.
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Manes, G., Meunier, I., Avila-Fernandez, A., Banfi, S., Le Meur, G., Zanlonghi, X., Corton, M., Simonelli, F., Brabet, P., Labesse, G., Audo, I., Mohand-Said, S., and 16 others.
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<strong>Mutations in IMPG1 cause vitelliform macular dystrophies.</strong>
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Am. J. Hum. Genet. 93: 571-578, 2013.
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[PubMed: 23993198]
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.07.018]
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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.
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<strong>Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.</strong>
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Ophthalmology 121: 2406-2414, 2014.
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[PubMed: 25085631]
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[Full Text: https://doi.org/10.1016/j.ophtha.2014.06.028]
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Sohocki, M. M., Sullivan, L. S., Mintz-Hittner, A., Small, K., Ferrell, R. E., Daiger, S. P.
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<strong>Exclusion of atypical vitelliform macular dystrophy from 8q24.3 and from other known macular degenerative loci. (Letter)</strong>
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Am. J. Hum. Genet. 61: 239-241, 1997.
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[PubMed: 9246008]
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[Full Text: https://doi.org/10.1016/S0002-9297(07)64299-2]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 12/30/2014<br>Carol A. Bocchini - updated : 11/5/2008<br>Cassandra L. Kniffin - updated : 10/14/2003
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Victor A. McKusick : 6/2/1986
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carol : 12/09/2022<br>carol : 07/09/2016<br>carol : 12/30/2014<br>carol : 11/5/2008<br>joanna : 3/18/2004<br>carol : 10/19/2003<br>ckniffin : 10/14/2003<br>carol : 8/12/1998<br>mimadm : 11/6/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/27/1989<br>marie : 3/25/1988<br>carol : 2/2/1988
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