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<title>
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Entry
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- #608970 - MACULAR DYSTROPHY, PATTERNED, 2; MDPT2
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- OMIM
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS169150"> <strong>Phenotypic Series</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="#molecularGenetics">Molecular Genetics</a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(MACULAR DYSTROPHY, PATTERNED) OR (CTNNA1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=14018&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/gtr/all/tests/?term=608970[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=99001" 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><a href="https://www.alliancegenome.org/disease/DOID:0060864" 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/608970" 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:0060864" 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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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 99001<br />
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<strong>DO:</strong> 0060864<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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608970
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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, PATTERNED, 2; MDPT2
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY, 2
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
|
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Location
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</th>
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<th>
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Phenotype
|
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
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<th>
|
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Inheritance
|
|
</th>
|
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<th>
|
|
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>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/geneMap/5/513?start=-3&limit=10&highlight=513">
|
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5q31.2
|
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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, patterned, 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/608970"> 608970 </a>
|
|
</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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CTNNA1
|
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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/116805"> 116805 </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/608970" 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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|
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<a href="/phenotypicSeries/PS169150" class="btn btn-info" role="button"> Phenotypic Series </a>
|
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|
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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">
|
|
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/608970" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/608970" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<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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|
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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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|
|
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</span>
|
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</div>
|
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|
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</div>
|
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|
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Butterfly-shaped foveal hyperpigmentation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230228&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230228</a>]</span><br /> -
|
|
Pigmentation consists of closely packed pigment granules in the retina pigment epithelium (RPE) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230227</a>]</span><br /> -
|
|
Butterfly surrounded by hypopigmentation (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230226&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230226</a>]</span><br /> -
|
|
Uneven distribution of macular yellow <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230225&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230225</a>]</span><br /> -
|
|
Diffuse pigment mottling in peripheral retina <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230224</a>]</span><br /> -
|
|
Bone spicule-like pigmentation in peripheral retina (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230223&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230223</a>]</span><br /> -
|
|
Decreased sensitivity of central visual field <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230222&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230222</a>]</span><br /> -
|
|
Defects in RPE seen on fluorescein angiography <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230221&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230221</a>]</span><br /> -
|
|
Drusen-like structures deforming parts of Bruch membrane <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230220&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230220</a>]</span><br /> -
|
|
Low to low-normal values seen on electrooculogram <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230219</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
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|
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|
|
</div>
|
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|
|
</div>
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|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset of symptoms in third to fourth decade of life<br /> -
|
|
Pigmentation not always butterfly-shaped<br /> -
|
|
Variable severity between patients and between eyes (in some patients)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the alpha-1 catenin gene (CTNNA1, <a href="/entry/116805#0001">116805.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<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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|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Macular dystrophy, patterned
|
|
- <a href="/phenotypicSeries/PS169150">PS169150</a>
|
|
- 3 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/3/348?start=-3&limit=10&highlight=348"> 3p21.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617111"> ?Macular dystrophy, patterned, 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/617111"> 617111 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602130"> MAPKAPK3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602130"> 602130 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/513?start=-3&limit=10&highlight=513"> 5q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608970"> Macular dystrophy, patterned, 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/608970"> 608970 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116805"> CTNNA1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/116805"> 116805 </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/169150"> Macular dystrophy, patterned, 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">
|
|
|
|
<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/169150"> 169150 </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>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
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|
|
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|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
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<p>A number sign (#) is used with this entry because of evidence that patterned macular dystrophy-2 (MDPT2) is caused by heterozygous mutation in the CTNNA1 gene (<a href="/entry/116805">116805</a>) on chromosome 5q31.</p>
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<p>Butterfly-shaped pigmentary macular dystrophy is an autosomal dominant eye disease characterized by bilateral accumulation of pigment in the macular area that resembles the wings of a butterfly (summary by <a href="#4" class="mim-tip-reference" title="van Lith-Verhoeven, J. J. C., Cremers, F. P. M., van den Helm, B., Hoyng, C. B., Deutman, A. F. <strong>Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.</strong> Molec. Vis. 9: 138-143, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12724643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12724643</a>]" pmid="12724643">van Lith-Verhoeven et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12724643" 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 general phenotypic description and a discussion of genetic heterogeneity of patterned macular dystrophy, see <a href="/entry/169150">169150</a>.</p>
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<p><a href="#2" class="mim-tip-reference" title="Deutman, A. F., van Blommestein, J. D. A., Henkes, H. E., Waardenburg, P. J., Solleveld-van Driest, E. <strong>Butterfly-shaped pigment dystrophy of the fovea.</strong> Arch. Ophthal. 83: 558-569, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5442145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5442145</a>] [<a href="https://doi.org/10.1001/archopht.1970.00990030558006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5442145">Deutman et al. (1970)</a> described 4 of 5 brothers and the son of 1 of them with a peculiar, bilateral, butterfly-shaped pigment dystrophy of the fovea. Although electrooculogram indicated a diffuse abnormality of the retina, there was little or no impairment of vision. The disorder was characterized by abnormal pigment at the level of the retinal pigment epithelium (RPE). This material is yellow, white, or black, and often accumulates in an unusual configuration consisting of 3 to 5 'arms' or 'wings' that resemble the wings of a butterfly. The material can be detected in some patients in the second decade of life, but affected individuals most commonly become symptomatic in their late twenties or early thirties. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5442145" 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="van Lith-Verhoeven, J. J. C., Cremers, F. P. M., van den Helm, B., Hoyng, C. B., Deutman, A. F. <strong>Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.</strong> Molec. Vis. 9: 138-143, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12724643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12724643</a>]" pmid="12724643">Van Lith-Verhoeven et al. (2003)</a> performed linkage studies in the Dutch family in which butterfly-shaped pigmentary macular dystrophy was first described (<a href="#2" class="mim-tip-reference" title="Deutman, A. F., van Blommestein, J. D. A., Henkes, H. E., Waardenburg, P. J., Solleveld-van Driest, E. <strong>Butterfly-shaped pigment dystrophy of the fovea.</strong> Arch. Ophthal. 83: 558-569, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5442145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5442145</a>] [<a href="https://doi.org/10.1001/archopht.1970.00990030558006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5442145">Deutman et al., 1970</a>) and excluded involvement of 44 loci known to be involved in retinal dystrophies, the ROM1 gene (<a href="/entry/180721">180721</a>), and the RDS gene (PRPH2; <a href="/entry/179605">179605</a>). <a href="#1" class="mim-tip-reference" title="den Hollander, A. I., van Lith-Verhoeven, J. J. C., Kersten, F. F. J., Heister, J. G. A. M., de Kovel, C. G. F., Deutman, A. F., Hoyng, C. B., Cremers, F. P. M. <strong>Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2.</strong> J. Med. Genet. 41: 699-702, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15342701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15342701</a>] [<a href="https://doi.org/10.1136/jmg.2004.019562" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15342701">Den Hollander et al. (2004)</a> performed a genomewide linkage scan in this family and identified a novel locus for butterfly-shaped macular dystrophy on chromosome 5q21.2-q33.2 (maximum multipoint lod score of 4.05 between markers D5S433 and D5S410). The critical interval spans 46 cM (52 Mb) and contains the PDE6A gene (<a href="/entry/180071">180071</a>). Sequence analysis of PDE6A showed no pathologic mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12724643+15342701+5442145" 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 the large Dutch family with patterned macular dystrophy mapping to chromosome 5q21-q33, originally described by <a href="#2" class="mim-tip-reference" title="Deutman, A. F., van Blommestein, J. D. A., Henkes, H. E., Waardenburg, P. J., Solleveld-van Driest, E. <strong>Butterfly-shaped pigment dystrophy of the fovea.</strong> Arch. Ophthal. 83: 558-569, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5442145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5442145</a>] [<a href="https://doi.org/10.1001/archopht.1970.00990030558006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5442145">Deutman et al. (1970)</a>, <a href="#3" class="mim-tip-reference" title="Saksens, N. T. M., Krebs, M. P., Schoenmaker-Koller, F. E., Hicks, W., Yu, M., Shi, L., Rowe, L., Collin, G. B., Charette, J. R., Letteboer, S. J., Neveling, K., van Moorsel, T. W., and 13 others. <strong>Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.</strong> Nature Genet. 48: 144-151, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26691986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26691986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26691986[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.3474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26691986">Saksens et al. (2016)</a> performed whole-exome sequencing and identified a heterozygous missense mutation in the CTNNA1 gene (L318S; <a href="/entry/116805#0001">116805.0001</a>). The mutation segregated fully with disease in the family and was not found in 162 ancestry-matched controls or in the Exome Variant Server database. Sequencing CTNNA1 in 93 unrelated individuals with butterfly-shaped pigment dystrophy and other pattern dystrophies identified 2 more missense mutations that segregated with disease: I431M (<a href="/entry/116805#0002">116805.0002</a>) in a Dutch mother and son, and E307K (<a href="/entry/116805#0003">116805.0003</a>) in a Belgian mother and daughter. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26691986+5442145" 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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den Hollander, A. I., van Lith-Verhoeven, J. J. C., Kersten, F. F. J., Heister, J. G. A. M., de Kovel, C. G. F., Deutman, A. F., Hoyng, C. B., Cremers, F. P. M.
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<strong>Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2.</strong>
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J. Med. Genet. 41: 699-702, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15342701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15342701</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15342701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2004.019562" target="_blank">Full Text</a>]
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Deutman, A. F., van Blommestein, J. D. A., Henkes, H. E., Waardenburg, P. J., Solleveld-van Driest, E.
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<strong>Butterfly-shaped pigment dystrophy of the fovea.</strong>
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Arch. Ophthal. 83: 558-569, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5442145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5442145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5442145" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1001/archopht.1970.00990030558006" target="_blank">Full Text</a>]
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Saksens, N. T. M., Krebs, M. P., Schoenmaker-Koller, F. E., Hicks, W., Yu, M., Shi, L., Rowe, L., Collin, G. B., Charette, J. R., Letteboer, S. J., Neveling, K., van Moorsel, T. W., and 13 others.
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<strong>Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.</strong>
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Nature Genet. 48: 144-151, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26691986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26691986</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26691986[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=26691986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.3474" target="_blank">Full Text</a>]
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van Lith-Verhoeven, J. J. C., Cremers, F. P. M., van den Helm, B., Hoyng, C. B., Deutman, A. F.
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<strong>Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.</strong>
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Molec. Vis. 9: 138-143, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12724643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12724643</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12724643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Marla J. F. O'Neill - updated : 4/8/2016
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carol : 04/11/2016<br>alopez : 4/8/2016<br>carol : 12/22/2014<br>carol : 12/16/2014<br>wwang : 12/13/2006<br>tkritzer : 10/15/2004
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<span class="mim-font">
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<strong>#</strong> 608970
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MACULAR DYSTROPHY, PATTERNED, 2; MDPT2
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<em>Alternative titles; symbols</em>
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MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY, 2
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<strong>ORPHA:</strong> 99001;
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<strong>DO:</strong> 0060864;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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5q31.2
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Macular dystrophy, patterned, 2
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<span class="mim-font">
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608970
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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CTNNA1
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<span class="mim-font">
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116805
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that patterned macular dystrophy-2 (MDPT2) is caused by heterozygous mutation in the CTNNA1 gene (116805) on chromosome 5q31.</p>
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<strong>Description</strong>
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<p>Butterfly-shaped pigmentary macular dystrophy is an autosomal dominant eye disease characterized by bilateral accumulation of pigment in the macular area that resembles the wings of a butterfly (summary by van Lith-Verhoeven et al., 2003). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of patterned macular dystrophy, see 169150.</p>
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<strong>Clinical Features</strong>
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<p>Deutman et al. (1970) described 4 of 5 brothers and the son of 1 of them with a peculiar, bilateral, butterfly-shaped pigment dystrophy of the fovea. Although electrooculogram indicated a diffuse abnormality of the retina, there was little or no impairment of vision. The disorder was characterized by abnormal pigment at the level of the retinal pigment epithelium (RPE). This material is yellow, white, or black, and often accumulates in an unusual configuration consisting of 3 to 5 'arms' or 'wings' that resemble the wings of a butterfly. The material can be detected in some patients in the second decade of life, but affected individuals most commonly become symptomatic in their late twenties or early thirties. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>Van Lith-Verhoeven et al. (2003) performed linkage studies in the Dutch family in which butterfly-shaped pigmentary macular dystrophy was first described (Deutman et al., 1970) and excluded involvement of 44 loci known to be involved in retinal dystrophies, the ROM1 gene (180721), and the RDS gene (PRPH2; 179605). Den Hollander et al. (2004) performed a genomewide linkage scan in this family and identified a novel locus for butterfly-shaped macular dystrophy on chromosome 5q21.2-q33.2 (maximum multipoint lod score of 4.05 between markers D5S433 and D5S410). The critical interval spans 46 cM (52 Mb) and contains the PDE6A gene (180071). Sequence analysis of PDE6A showed no pathologic mutation. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In the large Dutch family with patterned macular dystrophy mapping to chromosome 5q21-q33, originally described by Deutman et al. (1970), Saksens et al. (2016) performed whole-exome sequencing and identified a heterozygous missense mutation in the CTNNA1 gene (L318S; 116805.0001). The mutation segregated fully with disease in the family and was not found in 162 ancestry-matched controls or in the Exome Variant Server database. Sequencing CTNNA1 in 93 unrelated individuals with butterfly-shaped pigment dystrophy and other pattern dystrophies identified 2 more missense mutations that segregated with disease: I431M (116805.0002) in a Dutch mother and son, and E307K (116805.0003) in a Belgian mother and daughter. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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den Hollander, A. I., van Lith-Verhoeven, J. J. C., Kersten, F. F. J., Heister, J. G. A. M., de Kovel, C. G. F., Deutman, A. F., Hoyng, C. B., Cremers, F. P. M.
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<strong>Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2.</strong>
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J. Med. Genet. 41: 699-702, 2004.
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[PubMed: 15342701]
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[Full Text: https://doi.org/10.1136/jmg.2004.019562]
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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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Deutman, A. F., van Blommestein, J. D. A., Henkes, H. E., Waardenburg, P. J., Solleveld-van Driest, E.
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<strong>Butterfly-shaped pigment dystrophy of the fovea.</strong>
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Arch. Ophthal. 83: 558-569, 1970.
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[PubMed: 5442145]
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[Full Text: https://doi.org/10.1001/archopht.1970.00990030558006]
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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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Saksens, N. T. M., Krebs, M. P., Schoenmaker-Koller, F. E., Hicks, W., Yu, M., Shi, L., Rowe, L., Collin, G. B., Charette, J. R., Letteboer, S. J., Neveling, K., van Moorsel, T. W., and 13 others.
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<strong>Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.</strong>
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Nature Genet. 48: 144-151, 2016.
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[PubMed: 26691986]
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[Full Text: https://doi.org/10.1038/ng.3474]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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van Lith-Verhoeven, J. J. C., Cremers, F. P. M., van den Helm, B., Hoyng, C. B., Deutman, A. F.
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<strong>Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.</strong>
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Molec. Vis. 9: 138-143, 2003.
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[PubMed: 12724643]
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</p>
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</ol>
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<br />
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 4/8/2016
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 10/14/2004
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Edit History:
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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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carol : 10/20/2016<br>carol : 04/11/2016<br>alopez : 4/8/2016<br>carol : 12/22/2014<br>carol : 12/16/2014<br>wwang : 12/13/2006<br>tkritzer : 10/15/2004
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