2645 lines
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Entry
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- #225200 - ECTOPIA LENTIS ET PUPILLAE
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- OMIM
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<p>
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<span class="h4">#225200</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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<li role="presentation">
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<a href="/clinicalSynopsis/225200"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=ECTOPIA LENTIS ET PUPILLAE" 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=486&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK84111/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=225200[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=1885" 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-cell;">Animal Models</div>
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</a>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111648" 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/225200" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002535/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 419237004<br />
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<strong>ORPHA:</strong> 1885<br />
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<strong>DO:</strong> 0111648<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, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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225200
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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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|
ECTOPIA LENTIS ET PUPILLAE
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</span>
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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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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</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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ECTOPIA LENTIS WITH ECTOPIA OF PUPIL
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1071?start=-3&limit=10&highlight=1071">
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1q21.2
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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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Ectopia lentis et pupillae
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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/225200"> 225200 </a>
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</span>
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</td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span 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 class="mim-font">
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ADAMTSL4
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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/610113"> 610113 </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 class="btn-group ">
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<a href="/clinicalSynopsis/225200" 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 class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/225200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/225200" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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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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<p />
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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<span 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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<span class="h5 mim-font">
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<em> Eyes </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Ectopic lens <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550310</a>]</span><br /> -
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Ectopic pupil <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193523008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193523008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H21.56" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H21.56</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271135&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271135</a>]</span><br /> -
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Flat-appearing iris <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550311</a>]</span><br /> -
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Iris crypts and clefts underdeveloped <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550312</a>]</span><br /> -
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Enlarged corneal diameters (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550313&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550313</a>]</span><br /> -
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Persistent pupillary membrane (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95500008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95500008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009917" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009917</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009917" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009917</a>]</span><br /> -
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Transillumination of the iris (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400964006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400964006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1303011&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1303011</a>]</span><br /> -
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High myopia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34187009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34187009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271183&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271183</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011003</a>]</span><br /> -
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Cataract <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C1690964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1690964</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
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Retinal detachment (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42059000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42059000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H33.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H33.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/361.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">361.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035305</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000541</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000541" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000541</a>]</span><br /> -
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Acute intraocular hypertension (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550317&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550317</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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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Variability in extent of dislocation of lens and/or displacement of pupil, both within families and between eyes in a single individual<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the ADAMTS-like 4 gene (ADAMTSL4, <a href="/entry/610113#0003">610113.0003</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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<p>A number sign (#) is used with this entry because of evidence that ectopia lentis et pupillae can be caused by homozygous or compound heterozygous mutation in the ADAMTSL4 gene (<a href="/entry/610113">610113</a>) on chromosome 1q21.</p><p>Autosomal recessive isolated ectopia lentis-2 (ECTO2; <a href="/entry/225100">225100</a>) is also caused by mutation in the ADAMTSL4 gene.</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Ectopia lentis et pupillae is a congenital hereditary disorder in which there is displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions (summary by <a href="#5" class="mim-tip-reference" title="Cruysberg, J. R. M., Pinckers, A. <strong>Ectopia lentis et pupillae syndrome in three generations.</strong> Brit. J. Ophthal. 79: 135-138, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7696232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7696232</a>] [<a href="https://doi.org/10.1136/bjo.79.2.135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7696232">Cruysberg and Pinckers, 1995</a>). Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disc, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy (summary by <a href="#3" class="mim-tip-reference" title="Christensen, A. E., Fiskerstrand, T., Knappskog, P. M., Boman, H., Rodahl, E. <strong>A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.</strong> Invest. Ophthal. Vis. Sci. 51: 6369-6373, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20702823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20702823</a>] [<a href="https://doi.org/10.1167/iovs.10-5597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20702823">Christensen et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7696232+20702823" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#4" class="mim-tip-reference" title="Colley, A., Lloyd, I. C., Ridgway, A., Donnai, D. <strong>Ectopia lentis et pupillae: the genetic aspects and differential diagnosis.</strong> J. Med. Genet. 28: 791-794, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1770538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1770538</a>] [<a href="https://doi.org/10.1136/jmg.28.11.791" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1770538">Colley et al. (1991)</a> described 2 pairs of sibs and a fifth unrelated child with this disorder. The parents were nonconsanguineous in all cases. No skeletal, cardiac, or metabolic abnormalities were detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1770538" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Goldberg, M. F. <strong>Clinical manifestations of ectopia lentis et pupillae in 16 patients.</strong> Ophthalmology 95: 1080-1087, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3266004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3266004</a>] [<a href="https://doi.org/10.1016/s0161-6420(88)33043-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3266004">Goldberg (1988)</a> described the ophthalmologic features in 16 patients from 8 families. Characteristics in addition to displacement of the lens and pupil included high myopia, retinal detachment, enlarged corneal diameters, and cataract. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3266004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Cruysberg, J. R. M., Pinckers, A. <strong>Ectopia lentis et pupillae syndrome in three generations.</strong> Brit. J. Ophthal. 79: 135-138, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7696232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7696232</a>] [<a href="https://doi.org/10.1136/bjo.79.2.135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7696232">Cruysberg and Pinckers (1995)</a> described a kindred in which affected members were observed in 3 generations. In addition to ectopia lentis and ectopia pupillae, the patients had persistent pupillary membrane, iris transillumination, and poor pupillary dilatation. All developed bilateral cataracts before the age of 40 years, and 2 presented with intermittent acute intraocular hypertensive crises. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7696232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Christensen, A. E., Fiskerstrand, T., Knappskog, P. M., Boman, H., Rodahl, E. <strong>A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.</strong> Invest. Ophthal. Vis. Sci. 51: 6369-6373, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20702823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20702823</a>] [<a href="https://doi.org/10.1167/iovs.10-5597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20702823">Christensen et al. (2010)</a> examined 10 affected individuals from 5 Norwegian families segregating autosomal recessive ectopia lentis et pupillae. Dislocation of the lens was seen in all individuals, although there was variability in the extent of dislocation, with minimal displacement in both eyes of 1 patient and 1 eye of another patient. Zonular fibers were missing in the area between the displaced pupil and the edge of the dislocated lens. Prominent displacement of the pupil was seen in 9 eyes of 5 individuals, 7 upward and 2 downward, and in 2 family members, the dislocated pupil was seen primarily in 1 eye. Mild pupillary dislocation was seen in 3 individuals, which was primarily in 1 eye in 2 of them, and in 1 patient, both pupils were centrally positioned. In eyes with prominent displacement of the pupil, the iris surface appeared flat and there were no well-developed crypts or clefts. Transillumination of the iris was seen in 5 patients, and a thin pupillary membrane was seen in 2 patients. Cataract developed relatively early, and all affected individuals over 45 years of age had undergone intracapsular cataract extraction. In contrast to earlier reports, only 2 of the 10 patients had myopia. All patients were of normal stature and none had features of Marfan (<a href="/entry/154700">154700</a>) or Weill-Marchesani syndromes (<a href="/entry/277600">277600</a>). Echocardiography was normal in the 2 patients who were studied, and plasma homocysteine levels were normal in the 2 patients tested. No ocular abnormalities were seen in 11 unaffected first-degree relatives who were examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20702823" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The recessive inheritance of combined ectopia lentis and ectopia pupillae has been well established (<a href="#11" class="mim-tip-reference" title="Siemens, H. W. <strong>Ueber die Aetiologie der Ectopia lentis et pupillae.</strong> Albrecht von Graefes Arch. Klin. Exp. Ophthal. 109: 359-383, 1920."None>Siemens, 1920</a>). Whether simple ectopia lentis is a recessive entity separate from this is somewhat doubtful since simple and 'associated' forms are said to occur in the same family (<a href="#7" class="mim-tip-reference" title="Franceschetti, A. <strong>Ectopia lentis et pupillae congenita als rezessives Erbleiden und ihre Manifestierung durch Konsanguinitaet.</strong> Klin. Monatsbl. Augenheilkd. 78: 351-362, 1927."None>Franceschetti, 1927</a>; <a href="#6" class="mim-tip-reference" title="Diethelm, W. <strong>Ueber Ectopia lentis ohne Arachnodaktylie und ihre Beziehungen zur Ectopia lentis et pupillae.</strong> Ophthalmologica 114: 16-32, 1947.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20264072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20264072</a>] [<a href="https://doi.org/10.1159/000300446" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20264072">Diethelm, 1947</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20264072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Walls, G. L., Heath, G. G. <strong>Dominant ectopia lentis et pupillae.</strong> Am. J. Hum. Genet. 11: 166-168, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13661151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13661151</a>]" pmid="13661151">Walls and Heath (1959)</a> described 3 affected sibs and an affected child of one of these sibs. It seems most likely that this was the familiar recessive disorder, the normal parent of the affected member in the later generation being a heterozygote. To invoke dominant inheritance, one must assume gonadal mosaicism or failure of expression in one of the parents of the affected sibs. These parents, it seems, were not examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13661151" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Cruysberg, J. R. M., Pinckers, A. <strong>Ectopia lentis et pupillae syndrome in three generations.</strong> Brit. J. Ophthal. 79: 135-138, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7696232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7696232</a>] [<a href="https://doi.org/10.1136/bjo.79.2.135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7696232">Cruysberg and Pinckers (1995)</a> described a kindred in which affected members were observed in 3 generations. Although the parents of the first generation, in which there were 5 affected members of a sibship, were consanguineous, <a href="#5" class="mim-tip-reference" title="Cruysberg, J. R. M., Pinckers, A. <strong>Ectopia lentis et pupillae syndrome in three generations.</strong> Brit. J. Ophthal. 79: 135-138, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7696232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7696232</a>] [<a href="https://doi.org/10.1136/bjo.79.2.135" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7696232">Cruysberg and Pinckers (1995)</a> did not observe consanguinity in the next 2 generations. The authors raised the possibility of autosomal dominant inheritance with reduced penetrance. It seems more likely, however, that this was an instance of pseudodominance (<a href="#10" class="mim-tip-reference" title="McKusick, V. A. <strong>Personal Communication.</strong> Baltimore, Md. 1996."None>McKusick, 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7696232" 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="#3" class="mim-tip-reference" title="Christensen, A. E., Fiskerstrand, T., Knappskog, P. M., Boman, H., Rodahl, E. <strong>A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.</strong> Invest. Ophthal. Vis. Sci. 51: 6369-6373, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20702823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20702823</a>] [<a href="https://doi.org/10.1167/iovs.10-5597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20702823">Christensen et al. (2010)</a> performed homozygosity mapping in 5 Norwegian families with ectopia lentis et pupillae and identified a 0.67-cM (1.0 Mb) common segment on chromosome 1 in affected individuals, between SNP markers located 148,500,906 bp and 149,507,166 bp from chromosome 1pter (NCBI36). The findings were compatible with a common ancestor approximately 150 generations (4,000 years) earlier. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20702823" 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 10 affected individuals from 5 Norwegian families with ectopia lentis et pupillae mapping to chromosome 1p, <a href="#3" class="mim-tip-reference" title="Christensen, A. E., Fiskerstrand, T., Knappskog, P. M., Boman, H., Rodahl, E. <strong>A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.</strong> Invest. Ophthal. Vis. Sci. 51: 6369-6373, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20702823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20702823</a>] [<a href="https://doi.org/10.1167/iovs.10-5597" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20702823">Christensen et al. (2010)</a> sequenced the candidate gene ADAMTSL4 and identified homozygosity for a 20-bp deletion (<a href="/entry/610113#0003">610113.0003</a>). Obligate heterozygotes had no ocular abnormalities. Screening of 190 local blood donors identified 3 heterozygotes, corresponding to a prevalence for homozygosity of approximately 1:16,000 in this population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20702823" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an 8-year-old Swedish boy with ectopia lentis et pupillae, <a href="#1" class="mim-tip-reference" title="Aragon-Martin, J. A., Ahnood, D., Charteris, D. G., Saggar, A., Nischal, K. K., Comeglio, P., Chandra, A., Child, A. H., Amo, G. <strong>Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.</strong> Hum. Mutat. 31: E1622, 2010. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20564469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20564469</a>] [<a href="https://doi.org/10.1002/humu.21305" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20564469">Aragon-Martin et al. (2010)</a> identified compound heterozygosity for the 20-bp ADAMTSL4 deletion and an 11-bp ADAMTLS4 deletion (<a href="/entry/610113#0004">610113.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20564469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Caucasian British patient with ectopia lentis et pupillae, <a href="#2" class="mim-tip-reference" title="Chandra, A., Aragon-Martin, J. A., Hughes, K., Gati, S., Reddy, M. A., Deshpande, C., Cormack, G., Child, A. H., Charteris, D. G., Arno, G. <strong>A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.</strong> Invest. Ophthal. Vis. Sci. 53: 4889-4896, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22736615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22736615</a>] [<a href="https://doi.org/10.1167/iovs.12-9874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22736615">Chandra et al. (2012)</a> identified compound heterozygosity for the 20-bp ADAMTSL4 deletion and a 1-bp insertion in the ADAMTSL4 gene (<a href="/entry/610113#0007">610113.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22736615" 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="#Francois1961" class="mim-tip-reference" title="Francois, J. <strong>Heredity in Ophthalmology.</strong> St. Louis: C. V. Mosby 1961. P. 164. Note: Fig. 101.">Francois (1961)</a>; <a href="#Townes1976" class="mim-tip-reference" title="Townes, P. L. <strong>Ectopia lentis et pupillae.</strong> Arch. Ophthal. 94: 1126-1128, 1976.">Townes (1976)</a>; <a href="#Waardenburg1924" class="mim-tip-reference" title="Waardenburg, P. J. <strong>Ueber das Erblichkeitsmoment bei der angeborenen Ektopie der Pupille und der Linse.</strong> Genetica 6: 337-382, 1924.">Waardenburg (1924)</a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20564469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20564469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20564469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Invest. Ophthal. Vis. Sci. 53: 4889-4896, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22736615/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22736615</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22736615" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1167/iovs.12-9874" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Christensen2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Christensen, A. E., Fiskerstrand, T., Knappskog, P. M., Boman, H., Rodahl, E.
|
|
<strong>A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.</strong>
|
|
Invest. Ophthal. Vis. Sci. 51: 6369-6373, 2010.
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|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20702823/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20702823</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20702823" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1167/iovs.10-5597" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="Colley1991" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Colley, A., Lloyd, I. C., Ridgway, A., Donnai, D.
|
|
<strong>Ectopia lentis et pupillae: the genetic aspects and differential diagnosis.</strong>
|
|
J. Med. Genet. 28: 791-794, 1991.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1770538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1770538</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1770538" 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.28.11.791" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Cruysberg1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Cruysberg, J. R. M., Pinckers, A.
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|
<strong>Ectopia lentis et pupillae syndrome in three generations.</strong>
|
|
Brit. J. Ophthal. 79: 135-138, 1995.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7696232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7696232</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7696232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/bjo.79.2.135" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Diethelm1947" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Diethelm, W.
|
|
<strong>Ueber Ectopia lentis ohne Arachnodaktylie und ihre Beziehungen zur Ectopia lentis et pupillae.</strong>
|
|
Ophthalmologica 114: 16-32, 1947.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20264072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20264072</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20264072" 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/10.1159/000300446" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Franceschetti1927" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Franceschetti, A.
|
|
<strong>Ectopia lentis et pupillae congenita als rezessives Erbleiden und ihre Manifestierung durch Konsanguinitaet.</strong>
|
|
Klin. Monatsbl. Augenheilkd. 78: 351-362, 1927.
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Francois1961" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Francois, J.
|
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<strong>Heredity in Ophthalmology.</strong>
|
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St. Louis: C. V. Mosby 1961. P. 164. Note: Fig. 101.
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Goldberg1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Goldberg, M. F.
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<strong>Clinical manifestations of ectopia lentis et pupillae in 16 patients.</strong>
|
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Ophthalmology 95: 1080-1087, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3266004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3266004</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3266004" 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/s0161-6420(88)33043-5" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="McKusick1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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McKusick, V. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1996.
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Siemens1920" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
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Siemens, H. W.
|
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<strong>Ueber die Aetiologie der Ectopia lentis et pupillae.</strong>
|
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Albrecht von Graefes Arch. Klin. Exp. Ophthal. 109: 359-383, 1920.
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</p>
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</div>
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Townes1976" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Townes, P. L.
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<strong>Ectopia lentis et pupillae.</strong>
|
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Arch. Ophthal. 94: 1126-1128, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/938292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">938292</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=938292" 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.1976.03910040042007" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="13" class="mim-anchor"></a>
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<a id="Waardenburg1924" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Waardenburg, P. J.
|
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<strong>Ueber das Erblichkeitsmoment bei der angeborenen Ektopie der Pupille und der Linse.</strong>
|
|
Genetica 6: 337-382, 1924.
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</p>
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</div>
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</li>
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<li>
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<a id="14" class="mim-anchor"></a>
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<a id="Walls1959" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
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Walls, G. L., Heath, G. G.
|
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<strong>Dominant ectopia lentis et pupillae.</strong>
|
|
Am. J. Hum. Genet. 11: 166-168, 1959.
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|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13661151/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13661151</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13661151" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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Contributors:
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</span>
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</div>
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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 : 01/25/2013
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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</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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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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 : 07/17/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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 : 01/25/2013<br>carol : 5/1/2012<br>terry : 11/16/2010<br>alopez : 3/18/2004<br>carol : 9/9/2003<br>mark : 4/24/1995<br>davew : 8/24/1994<br>pfoster : 3/29/1994<br>warfield : 3/8/1994<br>mimadm : 2/19/1994<br>supermim : 3/16/1992
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 225200
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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|
ECTOPIA LENTIS ET PUPILLAE
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<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">
|
|
ECTOPIA LENTIS WITH ECTOPIA OF PUPIL
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 419237004;
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<strong>ORPHA:</strong> 1885;
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<strong>DO:</strong> 0111648;
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</span>
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</p>
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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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<h4>
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
|
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<tr class="active">
|
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<th>
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Location
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</th>
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<th>
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|
Phenotype
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</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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|
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
1q21.2
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Ectopia lentis et pupillae
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
225200
|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ADAMTSL4
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
610113
|
|
</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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<br />
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
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</h4>
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<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because of evidence that ectopia lentis et pupillae can be caused by homozygous or compound heterozygous mutation in the ADAMTSL4 gene (610113) on chromosome 1q21.</p><p>Autosomal recessive isolated ectopia lentis-2 (ECTO2; 225100) is also caused by mutation in the ADAMTSL4 gene.</p>
|
|
</span>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
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<p>Ectopia lentis et pupillae is a congenital hereditary disorder in which there is displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions (summary by Cruysberg and Pinckers, 1995). Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disc, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy (summary by Christensen et al., 2010). </p>
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<p>Colley et al. (1991) described 2 pairs of sibs and a fifth unrelated child with this disorder. The parents were nonconsanguineous in all cases. No skeletal, cardiac, or metabolic abnormalities were detected. </p><p>Goldberg (1988) described the ophthalmologic features in 16 patients from 8 families. Characteristics in addition to displacement of the lens and pupil included high myopia, retinal detachment, enlarged corneal diameters, and cataract. </p><p>Cruysberg and Pinckers (1995) described a kindred in which affected members were observed in 3 generations. In addition to ectopia lentis and ectopia pupillae, the patients had persistent pupillary membrane, iris transillumination, and poor pupillary dilatation. All developed bilateral cataracts before the age of 40 years, and 2 presented with intermittent acute intraocular hypertensive crises. </p><p>Christensen et al. (2010) examined 10 affected individuals from 5 Norwegian families segregating autosomal recessive ectopia lentis et pupillae. Dislocation of the lens was seen in all individuals, although there was variability in the extent of dislocation, with minimal displacement in both eyes of 1 patient and 1 eye of another patient. Zonular fibers were missing in the area between the displaced pupil and the edge of the dislocated lens. Prominent displacement of the pupil was seen in 9 eyes of 5 individuals, 7 upward and 2 downward, and in 2 family members, the dislocated pupil was seen primarily in 1 eye. Mild pupillary dislocation was seen in 3 individuals, which was primarily in 1 eye in 2 of them, and in 1 patient, both pupils were centrally positioned. In eyes with prominent displacement of the pupil, the iris surface appeared flat and there were no well-developed crypts or clefts. Transillumination of the iris was seen in 5 patients, and a thin pupillary membrane was seen in 2 patients. Cataract developed relatively early, and all affected individuals over 45 years of age had undergone intracapsular cataract extraction. In contrast to earlier reports, only 2 of the 10 patients had myopia. All patients were of normal stature and none had features of Marfan (154700) or Weill-Marchesani syndromes (277600). Echocardiography was normal in the 2 patients who were studied, and plasma homocysteine levels were normal in the 2 patients tested. No ocular abnormalities were seen in 11 unaffected first-degree relatives who were examined. </p>
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<p>The recessive inheritance of combined ectopia lentis and ectopia pupillae has been well established (Siemens, 1920). Whether simple ectopia lentis is a recessive entity separate from this is somewhat doubtful since simple and 'associated' forms are said to occur in the same family (Franceschetti, 1927; Diethelm, 1947). </p><p>Walls and Heath (1959) described 3 affected sibs and an affected child of one of these sibs. It seems most likely that this was the familiar recessive disorder, the normal parent of the affected member in the later generation being a heterozygote. To invoke dominant inheritance, one must assume gonadal mosaicism or failure of expression in one of the parents of the affected sibs. These parents, it seems, were not examined. </p><p>Cruysberg and Pinckers (1995) described a kindred in which affected members were observed in 3 generations. Although the parents of the first generation, in which there were 5 affected members of a sibship, were consanguineous, Cruysberg and Pinckers (1995) did not observe consanguinity in the next 2 generations. The authors raised the possibility of autosomal dominant inheritance with reduced penetrance. It seems more likely, however, that this was an instance of pseudodominance (McKusick, 1996). </p>
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<strong>Mapping</strong>
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<p>Christensen et al. (2010) performed homozygosity mapping in 5 Norwegian families with ectopia lentis et pupillae and identified a 0.67-cM (1.0 Mb) common segment on chromosome 1 in affected individuals, between SNP markers located 148,500,906 bp and 149,507,166 bp from chromosome 1pter (NCBI36). The findings were compatible with a common ancestor approximately 150 generations (4,000 years) earlier. </p>
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<p>In 10 affected individuals from 5 Norwegian families with ectopia lentis et pupillae mapping to chromosome 1p, Christensen et al. (2010) sequenced the candidate gene ADAMTSL4 and identified homozygosity for a 20-bp deletion (610113.0003). Obligate heterozygotes had no ocular abnormalities. Screening of 190 local blood donors identified 3 heterozygotes, corresponding to a prevalence for homozygosity of approximately 1:16,000 in this population. </p><p>In an 8-year-old Swedish boy with ectopia lentis et pupillae, Aragon-Martin et al. (2010) identified compound heterozygosity for the 20-bp ADAMTSL4 deletion and an 11-bp ADAMTLS4 deletion (610113.0004). </p><p>In a Caucasian British patient with ectopia lentis et pupillae, Chandra et al. (2012) identified compound heterozygosity for the 20-bp ADAMTSL4 deletion and a 1-bp insertion in the ADAMTSL4 gene (610113.0007). </p>
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<strong>See Also:</strong>
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Francois (1961); Townes (1976); Waardenburg (1924)
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Aragon-Martin, J. A., Ahnood, D., Charteris, D. G., Saggar, A., Nischal, K. K., Comeglio, P., Chandra, A., Child, A. H., Amo, G.
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<strong>Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.</strong>
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Hum. Mutat. 31: E1622, 2010. Note: Electronic Article.
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[PubMed: 20564469]
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[Full Text: https://doi.org/10.1002/humu.21305]
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Chandra, A., Aragon-Martin, J. A., Hughes, K., Gati, S., Reddy, M. A., Deshpande, C., Cormack, G., Child, A. H., Charteris, D. G., Arno, G.
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<strong>A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.</strong>
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Invest. Ophthal. Vis. Sci. 53: 4889-4896, 2012.
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[PubMed: 22736615]
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[Full Text: https://doi.org/10.1167/iovs.12-9874]
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Christensen, A. E., Fiskerstrand, T., Knappskog, P. M., Boman, H., Rodahl, E.
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<strong>A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.</strong>
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Invest. Ophthal. Vis. Sci. 51: 6369-6373, 2010.
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[PubMed: 20702823]
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[Full Text: https://doi.org/10.1167/iovs.10-5597]
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Colley, A., Lloyd, I. C., Ridgway, A., Donnai, D.
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<strong>Ectopia lentis et pupillae: the genetic aspects and differential diagnosis.</strong>
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J. Med. Genet. 28: 791-794, 1991.
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[PubMed: 1770538]
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[Full Text: https://doi.org/10.1136/jmg.28.11.791]
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Cruysberg, J. R. M., Pinckers, A.
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<strong>Ectopia lentis et pupillae syndrome in three generations.</strong>
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Brit. J. Ophthal. 79: 135-138, 1995.
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[PubMed: 7696232]
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[Full Text: https://doi.org/10.1136/bjo.79.2.135]
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Diethelm, W.
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<strong>Ueber Ectopia lentis ohne Arachnodaktylie und ihre Beziehungen zur Ectopia lentis et pupillae.</strong>
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Ophthalmologica 114: 16-32, 1947.
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[PubMed: 20264072]
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[Full Text: https://doi.org/10.1159/000300446]
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Franceschetti, A.
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<strong>Ectopia lentis et pupillae congenita als rezessives Erbleiden und ihre Manifestierung durch Konsanguinitaet.</strong>
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Klin. Monatsbl. Augenheilkd. 78: 351-362, 1927.
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Francois, J.
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<strong>Heredity in Ophthalmology.</strong>
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St. Louis: C. V. Mosby 1961. P. 164. Note: Fig. 101.
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Goldberg, M. F.
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<strong>Clinical manifestations of ectopia lentis et pupillae in 16 patients.</strong>
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Ophthalmology 95: 1080-1087, 1988.
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[PubMed: 3266004]
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[Full Text: https://doi.org/10.1016/s0161-6420(88)33043-5]
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McKusick, V. A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 1996.
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Siemens, H. W.
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<strong>Ueber die Aetiologie der Ectopia lentis et pupillae.</strong>
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Albrecht von Graefes Arch. Klin. Exp. Ophthal. 109: 359-383, 1920.
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Townes, P. L.
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<strong>Ectopia lentis et pupillae.</strong>
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Arch. Ophthal. 94: 1126-1128, 1976.
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[PubMed: 938292]
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[Full Text: https://doi.org/10.1001/archopht.1976.03910040042007]
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Waardenburg, P. J.
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<strong>Ueber das Erblichkeitsmoment bei der angeborenen Ektopie der Pupille und der Linse.</strong>
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Genetica 6: 337-382, 1924.
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Walls, G. L., Heath, G. G.
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<strong>Dominant ectopia lentis et pupillae.</strong>
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Am. J. Hum. Genet. 11: 166-168, 1959.
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[PubMed: 13661151]
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Marla J. F. O'Neill - updated : 01/25/2013
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</div>
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</div>
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</div>
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<div class="modal-footer">
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<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
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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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</body>
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</html>
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