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<title>
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Entry
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- #251750 - MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA; MSPKA
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- OMIM
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<span class="h4">#251750</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/251750"><strong>Clinical Synopsis</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="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(MICROSPHEROPHAKIA / MEGALOCORNEA, WITH ECTOPIA LENTIS WITH WITHOUT SECONDARY GLAUCOMA) OR (LTBP2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19302&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/8884" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=251750[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=238763" 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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<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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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 238763<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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251750
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA; MSPKA
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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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<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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</th>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/14/388?start=-3&limit=10&highlight=388">
|
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14q24.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
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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/251750"> 251750 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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LTBP2
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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/602091"> 602091 </a>
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/251750" 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')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/251750" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/251750" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
|
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|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Increased arm-span-to-height ratio (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550565</a>]</span><br /> -
|
|
Decreased upper-to-lower body ratio (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550566&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550566</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
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|
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Microspherophakia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416671000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416671000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1562061&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1562061</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030961" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030961</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030961" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030961</a>]</span><br /> -
|
|
Lens dislocation <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H27.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H27.10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H27.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H27.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023309&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023309</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001083</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0012019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012019</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001083</a>]</span><br /> -
|
|
Megalocornea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268158009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268158009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5574682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574682</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000485" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000485</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000485" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000485</a>]</span><br /> -
|
|
Myopia, axial <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/408757002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">408757002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1443296&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1443296</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031730" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031730</a>]</span><br /> -
|
|
Hypermetropia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38101003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38101003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020490&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020490</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000540</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000540</a>]</span><br /> -
|
|
Glaucoma, secondary <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95717004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95717004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149893&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149893</a>]</span><br /> -
|
|
Deep anterior chamber (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246991003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246991003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423280&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423280</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007765" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007765</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007765" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007765</a>]</span><br /> -
|
|
Flat anterior chamber (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/404675003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">404675003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55457007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55457007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/360.34" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">360.34</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550569&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550569</a>, <a href="https://bioportal.bioontology.org/search?q=C0271004&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271004</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008037" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008037</a>]</span><br /> -
|
|
Iridodonesis (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/118166004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">118166004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423320&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423320</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100693</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100693" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100693</a>]</span><br /> -
|
|
Retinal detachment, postsurgical (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550571&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550571</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- High-arched palate (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br /> -
|
|
Normal gums <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/827037009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">827037009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550572</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/162005007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">162005007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426482</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
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- Pectus excavatum, mild (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806813&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806813</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391987005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391987005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391982004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391982004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.81</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span><br />
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<strong> SKIN, NAILS, & HAIR </strong>
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- Normal skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/225544001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">225544001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0558145&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0558145</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Patients in whom echocardiography has been performed have a normal heart, heart valves, and aortic root<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the latent transforming growth factor beta binding protein 2 gene (LTBP2, <a href="/entry/602091#0005">602091.0005</a>)<br />
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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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<p>A number sign (#) is used with this entry because of evidence that microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, can be caused by homozygous mutation in the LTBP2 gene (<a href="/entry/602091">602091</a>) on chromosome 14q24.</p>
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<p>Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by <a href="#1" class="mim-tip-reference" title="Ben Yahia, S., Ouechtati, F., Jelliti, B., Nouira, S., Chakroun, S., Abdelhak, S., Khairallah, M. <strong>Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.</strong> J. Hum. Genet. 54: 550-553, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19696795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19696795</a>] [<a href="https://doi.org/10.1038/jhg.2009.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19696795">Ben Yahia et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19696795" 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>Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS; <a href="/entry/154700">154700</a>), and Weill-Marchesani syndrome (WMS; <a href="/entry/277600">277600</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Ben Yahia, S., Ouechtati, F., Jelliti, B., Nouira, S., Chakroun, S., Abdelhak, S., Khairallah, M. <strong>Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.</strong> J. Hum. Genet. 54: 550-553, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19696795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19696795</a>] [<a href="https://doi.org/10.1038/jhg.2009.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19696795">Ben Yahia et al. (2009)</a> studied a sister and brother with isolated microspherophakia from a consanguineous Tunisian family. They had no cardiovascular, musculoskeletal, or metabolic disease, and there was no family history of Marfan syndrome, Weill-Marchesani syndrome, or metabolic disease. Their parents and 4 other sibs were unaffected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19696795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Kumar, A., Duvvari, M. R., Prabhakaran, V. C., Shetty, J. S., Murthy, G. J., Blanton, S. H. <strong>A homozygous mutation in LTBP2 causes isolated microspherophakia.</strong> Hum. Genet. 128: 365-371, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20617341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20617341</a>] [<a href="https://doi.org/10.1007/s00439-010-0858-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20617341">Kumar et al. (2010)</a> studied 2 consanguineous Indian families in which there were 3 brothers and a sister and brother, respectively, with microspherophakia. The 3 brothers all had unilateral lens dislocation into the vitreous cavity. The 23-year-old female presented with blurred vision and was found to have bilateral microspherophakia and secondary glaucoma, as did her 15-year-old brother. None of the 5 affected individuals had enlarged cornea, buphthalmos, abnormal angle structures, or increased axial length, excluding a diagnosis of primary congenital glaucoma in both families. None of the patients from either family had any systemic involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20617341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Desir, J., Sznajer, Y., Depasse, F., Roulez, F., Schrooyen, M., Meire, F., Abramowicz, M. <strong>LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.</strong> Europ. J. Hum. Genet. 18: 761-767, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20179738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20179738</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20179738[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20179738">Desir et al. (2010)</a> described 3 sibs, born of first-cousin Moroccan parents, who had bilateral microspherophakia and megalocornea. The proband presented at 18 months of age with impaired vision and was found to have microspherophakia with bilateral lens dislocation, megalocornea, flat irides, and iridodonesis. Eye pressures were normal, and he had axial myopia. He underwent bilateral lensectomy at 2 years of age; 4 to 5 years later he had bilateral retinal detachment, and ocular hypertension developed. A sister was examined at 10 months of age due to megalocornea; she also had microspherophakia, iridodonesis, and axial myopia, with very deep anterior chambers, miotic oval pupils without well-defined borders, and normal eye pressures. She had complete posterior lens dislocation at 6 years of age, and ocular hypertension was noted at 8 years of age. Another sister presented at 18 months of age with axial myopia, megalocornea, microspherophakia without lens dislocation, iridodonesis, iris anomalies including anterior synechiae and iris mamillations, deep anterior chambers, and normal eye pressures. At 5 years of age, she had intermittent anterior dislocation of the left lens, causing acute glaucoma crises, and she underwent emergent extraction of the lens; left retinal detachment developed a few weeks later. Progressive posterior luxation of the right lens and bilateral ocular hypertension were observed. Reexamination of the proband at 14 years of age revealed an increased arm span of 204 cm with a height of 184 cm, and a decreased upper-to-lower body ratio. His hands were normal with no arachnodactyly, and the Walker and Steinberg signs were not present; Marfan syndrome (<a href="/entry/154700">154700</a>) was considered, but direct analysis of the FBN1 gene (<a href="/entry/134797">134797</a>) revealed no mutation. His affected sisters had normal upper-to-lower body ratios. <a href="#2" class="mim-tip-reference" title="Desir, J., Sznajer, Y., Depasse, F., Roulez, F., Schrooyen, M., Meire, F., Abramowicz, M. <strong>LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.</strong> Europ. J. Hum. Genet. 18: 761-767, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20179738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20179738</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20179738[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20179738">Desir et al. (2010)</a> also reported a second family of Macedonian Gypsy descent with 1 affected girl and 1 healthy boy. The girl presented at 2 years of age with megalocornea, and examination showed patchy iris atrophy and a very flat anterior chamber, with anterosuperior dislocation of microspherophakic lenses. Fundi and eye pressures were normal at that time, and her eye pressures were still normal at 3 years of age. All affected children from both families had unremarkable skin, teeth, and gums, and their hearts, valves, and aortic roots were normal by ultrasonography. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20179738" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Khan, A. O., Aldahmesh, M. A., Alkuraya, F. S. <strong>Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma--a distinct phenotype caused by recessive LTBP2 mutations.</strong> Molec. Vis. 17: 2570-2579, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22025892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22025892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22025892[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="22025892">Khan et al. (2011)</a> reported 8 affected individuals from 3 consanguineous families with congenital megalocornea and secondary glaucoma due to spherophakia and/or ectopia lentis. The authors noted that 1 patient from each family had spontaneous complete crystalline lens dislocation into the anterior chamber with acute glaucoma during early childhood, an unusual ophthalmic presentation that had previously been most strongly associated with homocystinuria (see <a href="/entry/236200">236200</a>); however, homocystinuria screening in these patients was negative. In addition, 2 of the older patients had tall stature and a high-arched palate, but none of the other affected individuals had dysmorphic features, dysmorphic body habitus, or nonocular congenital anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22025892" 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>Small round lens as an isolated abnormality appears to be a recessive. <a href="#3" class="mim-tip-reference" title="Fleischer, B. <strong>Abnorme Kleinheit und Kugelgestalt der Linse bei zwei Geschwisterpaaren.</strong> Arch. Augenheilkd. 80: 248 only, 1916."None>Fleischer (1916)</a>, <a href="#5" class="mim-tip-reference" title="Gil, R. R. <strong>Familiaere Microphakie.</strong> Klin. Monatsbl. Augenheilkd. 85: 285 only, 1928."None>Gil (1928)</a>, and <a href="#4" class="mim-tip-reference" title="Franceschetti, A. <strong>Ueber Mikrophakie und deren Erbgang.</strong> Klin. Monatsbl. Augenheilkd. 85: 285 only, 1930."None>Franceschetti (1930)</a> reported affected sibs, and <a href="#3" class="mim-tip-reference" title="Fleischer, B. <strong>Abnorme Kleinheit und Kugelgestalt der Linse bei zwei Geschwisterpaaren.</strong> Arch. Augenheilkd. 80: 248 only, 1916."None>Fleischer (1916)</a> and <a href="#4" class="mim-tip-reference" title="Franceschetti, A. <strong>Ueber Mikrophakie und deren Erbgang.</strong> Klin. Monatsbl. Augenheilkd. 85: 285 only, 1930."None>Franceschetti (1930)</a> reported parental consanguinity.</p><p><a href="#1" class="mim-tip-reference" title="Ben Yahia, S., Ouechtati, F., Jelliti, B., Nouira, S., Chakroun, S., Abdelhak, S., Khairallah, M. <strong>Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.</strong> J. Hum. Genet. 54: 550-553, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19696795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19696795</a>] [<a href="https://doi.org/10.1038/jhg.2009.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19696795">Ben Yahia et al. (2009)</a> stated that, from 1901 to 2009, 30 sporadic cases of microspherophakia had been reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19696795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a consanguineous Indian family in which 3 brothers had microspherophakia, <a href="#7" class="mim-tip-reference" title="Kumar, A., Duvvari, M. R., Prabhakaran, V. C., Shetty, J. S., Murthy, G. J., Blanton, S. H. <strong>A homozygous mutation in LTBP2 causes isolated microspherophakia.</strong> Hum. Genet. 128: 365-371, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20617341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20617341</a>] [<a href="https://doi.org/10.1007/s00439-010-0858-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20617341">Kumar et al. (2010)</a> performed a whole-genome scan and identified a 31.52-cM (22.76-Mb) region of homozygosity between D14S588 and D14S1050 on chromosome 14q24-q32.12. A maximum multipoint lod score of 2.91 was obtained between markers D14S1020 and D14S606. The region contained 110 reference genes. Haplotype analysis in another consanguineous Indian family with microspherophakia did not identify a region of homozygosity, suggesting genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20617341" 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 consanguineous Moroccan family in which 3 sibs had megalocornea, microspherophakia, ectopia lentis, and secondary glaucoma, <a href="#2" class="mim-tip-reference" title="Desir, J., Sznajer, Y., Depasse, F., Roulez, F., Schrooyen, M., Meire, F., Abramowicz, M. <strong>LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.</strong> Europ. J. Hum. Genet. 18: 761-767, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20179738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20179738</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20179738[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2010.11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20179738">Desir et al. (2010)</a> performed homozygosity mapping and identified a region of homozygosity on chromosome 14q23.3-q24.3 that segregated with disease. A maximum multipoint lod score of 2.87 was calculated at D14S1002. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20179738" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 affected individuals from 2 consanguineous families with megalocornea, lens dislocation, and secondary glaucoma, <a href="#6" class="mim-tip-reference" title="Khan, A. O., Aldahmesh, M. A., Alkuraya, F. S. <strong>Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma--a distinct phenotype caused by recessive LTBP2 mutations.</strong> Molec. Vis. 17: 2570-2579, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22025892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22025892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22025892[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="22025892">Khan et al. (2011)</a> detected a common run of homozygosity in a region of 14q containing the LTBP2 gene (<a href="/entry/602091">602091</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22025892" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Exclusion Studies</em></strong></p><p>
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By linkage analysis in the consanguineous Tunisian family segregating isolated microspherophakia, <a href="#1" class="mim-tip-reference" title="Ben Yahia, S., Ouechtati, F., Jelliti, B., Nouira, S., Chakroun, S., Abdelhak, S., Khairallah, M. <strong>Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.</strong> J. Hum. Genet. 54: 550-553, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19696795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19696795</a>] [<a href="https://doi.org/10.1038/jhg.2009.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19696795">Ben Yahia et al. (2009)</a> found that the 2 affected sibs were heterozygous for all tested markers overlapping the ADAMTS10 gene (<a href="/entry/608990">608990</a>), and although the sibs shared the same haplotype around the FBN1 gene (<a href="/entry/134797">134797</a>), no homozygosity by descent was observed, making linkage to FBN1 unlikely under the hypothesis of autosomal recessive inheritance. <a href="#1" class="mim-tip-reference" title="Ben Yahia, S., Ouechtati, F., Jelliti, B., Nouira, S., Chakroun, S., Abdelhak, S., Khairallah, M. <strong>Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.</strong> J. Hum. Genet. 54: 550-553, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19696795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19696795</a>] [<a href="https://doi.org/10.1038/jhg.2009.75" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19696795">Ben Yahia et al. (2009)</a> concluded that WMS, which can be caused by mutation in the FBN1 or the ADAMTS10 gene, and isolated microspherophakia are not allelic disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19696795" 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 3 affected brothers from a consanguineous Indian family segregating microspherophakia mapping to chromosome 14q24-q32.12, <a href="#7" class="mim-tip-reference" title="Kumar, A., Duvvari, M. R., Prabhakaran, V. C., Shetty, J. S., Murthy, G. J., Blanton, S. H. <strong>A homozygous mutation in LTBP2 causes isolated microspherophakia.</strong> Hum. Genet. 128: 365-371, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20617341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20617341</a>] [<a href="https://doi.org/10.1007/s00439-010-0858-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20617341">Kumar et al. (2010)</a> identified homozygosity for a frameshift mutation in the LTBP2 gene (<a href="/entry/602091#0005">602091.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20617341" 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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Ben Yahia, S., Ouechtati, F., Jelliti, B., Nouira, S., Chakroun, S., Abdelhak, S., Khairallah, M.
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<strong>Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.</strong>
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J. Hum. Genet. 54: 550-553, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19696795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19696795</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19696795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/jhg.2009.75" target="_blank">Full Text</a>]
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Desir, J., Sznajer, Y., Depasse, F., Roulez, F., Schrooyen, M., Meire, F., Abramowicz, M.
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<strong>LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.</strong>
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Europ. J. Hum. Genet. 18: 761-767, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20179738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20179738</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20179738[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20179738" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2010.11" target="_blank">Full Text</a>]
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Fleischer, B.
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<strong>Abnorme Kleinheit und Kugelgestalt der Linse bei zwei Geschwisterpaaren.</strong>
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Arch. Augenheilkd. 80: 248 only, 1916.
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Franceschetti, A.
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<strong>Ueber Mikrophakie und deren Erbgang.</strong>
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Klin. Monatsbl. Augenheilkd. 85: 285 only, 1930.
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Gil, R. R.
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<strong>Familiaere Microphakie.</strong>
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Klin. Monatsbl. Augenheilkd. 85: 285 only, 1928.
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Khan, A. O., Aldahmesh, M. A., Alkuraya, F. S.
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<strong>Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma--a distinct phenotype caused by recessive LTBP2 mutations.</strong>
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Molec. Vis. 17: 2570-2579, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22025892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22025892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22025892[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22025892" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kumar, A., Duvvari, M. R., Prabhakaran, V. C., Shetty, J. S., Murthy, G. J., Blanton, S. H.
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<strong>A homozygous mutation in LTBP2 causes isolated microspherophakia.</strong>
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Hum. Genet. 128: 365-371, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20617341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20617341</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20617341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Marla J. F. O'Neill - updated : 8/5/2010<br>Marla J. F. O'Neill - updated : 8/3/2010
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carol : 06/01/2012<br>carol : 6/1/2012<br>terry : 5/22/2012<br>joanna : 5/4/2012<br>terry : 11/16/2010<br>carol : 8/18/2010<br>carol : 8/5/2010<br>terry : 8/5/2010<br>wwang : 8/3/2010<br>mimadm : 2/19/1994<br>supermim : 3/17/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>reenie : 6/4/1986
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MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA; MSPKA
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 238763;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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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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Inheritance
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<th>
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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14q24.3
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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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Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
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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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251750
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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<td>
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<span class="mim-font">
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LTBP2
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</td>
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<td>
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<span class="mim-font">
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602091
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</tr>
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</tbody>
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</table>
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, can be caused by homozygous mutation in the LTBP2 gene (602091) on chromosome 14q24.</p>
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<strong>Description</strong>
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</h4>
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<p>Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by Ben Yahia et al., 2009). </p><p>Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS; 154700), and Weill-Marchesani syndrome (WMS; 277600).</p>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Ben Yahia et al. (2009) studied a sister and brother with isolated microspherophakia from a consanguineous Tunisian family. They had no cardiovascular, musculoskeletal, or metabolic disease, and there was no family history of Marfan syndrome, Weill-Marchesani syndrome, or metabolic disease. Their parents and 4 other sibs were unaffected. </p><p>Kumar et al. (2010) studied 2 consanguineous Indian families in which there were 3 brothers and a sister and brother, respectively, with microspherophakia. The 3 brothers all had unilateral lens dislocation into the vitreous cavity. The 23-year-old female presented with blurred vision and was found to have bilateral microspherophakia and secondary glaucoma, as did her 15-year-old brother. None of the 5 affected individuals had enlarged cornea, buphthalmos, abnormal angle structures, or increased axial length, excluding a diagnosis of primary congenital glaucoma in both families. None of the patients from either family had any systemic involvement. </p><p>Desir et al. (2010) described 3 sibs, born of first-cousin Moroccan parents, who had bilateral microspherophakia and megalocornea. The proband presented at 18 months of age with impaired vision and was found to have microspherophakia with bilateral lens dislocation, megalocornea, flat irides, and iridodonesis. Eye pressures were normal, and he had axial myopia. He underwent bilateral lensectomy at 2 years of age; 4 to 5 years later he had bilateral retinal detachment, and ocular hypertension developed. A sister was examined at 10 months of age due to megalocornea; she also had microspherophakia, iridodonesis, and axial myopia, with very deep anterior chambers, miotic oval pupils without well-defined borders, and normal eye pressures. She had complete posterior lens dislocation at 6 years of age, and ocular hypertension was noted at 8 years of age. Another sister presented at 18 months of age with axial myopia, megalocornea, microspherophakia without lens dislocation, iridodonesis, iris anomalies including anterior synechiae and iris mamillations, deep anterior chambers, and normal eye pressures. At 5 years of age, she had intermittent anterior dislocation of the left lens, causing acute glaucoma crises, and she underwent emergent extraction of the lens; left retinal detachment developed a few weeks later. Progressive posterior luxation of the right lens and bilateral ocular hypertension were observed. Reexamination of the proband at 14 years of age revealed an increased arm span of 204 cm with a height of 184 cm, and a decreased upper-to-lower body ratio. His hands were normal with no arachnodactyly, and the Walker and Steinberg signs were not present; Marfan syndrome (154700) was considered, but direct analysis of the FBN1 gene (134797) revealed no mutation. His affected sisters had normal upper-to-lower body ratios. Desir et al. (2010) also reported a second family of Macedonian Gypsy descent with 1 affected girl and 1 healthy boy. The girl presented at 2 years of age with megalocornea, and examination showed patchy iris atrophy and a very flat anterior chamber, with anterosuperior dislocation of microspherophakic lenses. Fundi and eye pressures were normal at that time, and her eye pressures were still normal at 3 years of age. All affected children from both families had unremarkable skin, teeth, and gums, and their hearts, valves, and aortic roots were normal by ultrasonography. </p><p>Khan et al. (2011) reported 8 affected individuals from 3 consanguineous families with congenital megalocornea and secondary glaucoma due to spherophakia and/or ectopia lentis. The authors noted that 1 patient from each family had spontaneous complete crystalline lens dislocation into the anterior chamber with acute glaucoma during early childhood, an unusual ophthalmic presentation that had previously been most strongly associated with homocystinuria (see 236200); however, homocystinuria screening in these patients was negative. In addition, 2 of the older patients had tall stature and a high-arched palate, but none of the other affected individuals had dysmorphic features, dysmorphic body habitus, or nonocular congenital anomalies. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Small round lens as an isolated abnormality appears to be a recessive. Fleischer (1916), Gil (1928), and Franceschetti (1930) reported affected sibs, and Fleischer (1916) and Franceschetti (1930) reported parental consanguinity.</p><p>Ben Yahia et al. (2009) stated that, from 1901 to 2009, 30 sporadic cases of microspherophakia had been reported. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a consanguineous Indian family in which 3 brothers had microspherophakia, Kumar et al. (2010) performed a whole-genome scan and identified a 31.52-cM (22.76-Mb) region of homozygosity between D14S588 and D14S1050 on chromosome 14q24-q32.12. A maximum multipoint lod score of 2.91 was obtained between markers D14S1020 and D14S606. The region contained 110 reference genes. Haplotype analysis in another consanguineous Indian family with microspherophakia did not identify a region of homozygosity, suggesting genetic heterogeneity. </p><p>In a consanguineous Moroccan family in which 3 sibs had megalocornea, microspherophakia, ectopia lentis, and secondary glaucoma, Desir et al. (2010) performed homozygosity mapping and identified a region of homozygosity on chromosome 14q23.3-q24.3 that segregated with disease. A maximum multipoint lod score of 2.87 was calculated at D14S1002. </p><p>In 4 affected individuals from 2 consanguineous families with megalocornea, lens dislocation, and secondary glaucoma, Khan et al. (2011) detected a common run of homozygosity in a region of 14q containing the LTBP2 gene (602091). </p><p><strong><em>Exclusion Studies</em></strong></p><p>
|
|
By linkage analysis in the consanguineous Tunisian family segregating isolated microspherophakia, Ben Yahia et al. (2009) found that the 2 affected sibs were heterozygous for all tested markers overlapping the ADAMTS10 gene (608990), and although the sibs shared the same haplotype around the FBN1 gene (134797), no homozygosity by descent was observed, making linkage to FBN1 unlikely under the hypothesis of autosomal recessive inheritance. Ben Yahia et al. (2009) concluded that WMS, which can be caused by mutation in the FBN1 or the ADAMTS10 gene, and isolated microspherophakia are not allelic disorders. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 3 affected brothers from a consanguineous Indian family segregating microspherophakia mapping to chromosome 14q24-q32.12, Kumar et al. (2010) identified homozygosity for a frameshift mutation in the LTBP2 gene (602091.0005). </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Ben Yahia, S., Ouechtati, F., Jelliti, B., Nouira, S., Chakroun, S., Abdelhak, S., Khairallah, M.
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<strong>Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.</strong>
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J. Hum. Genet. 54: 550-553, 2009.
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[PubMed: 19696795]
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[Full Text: https://doi.org/10.1038/jhg.2009.75]
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</li>
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<li>
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<p class="mim-text-font">
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Desir, J., Sznajer, Y., Depasse, F., Roulez, F., Schrooyen, M., Meire, F., Abramowicz, M.
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<strong>LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.</strong>
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Europ. J. Hum. Genet. 18: 761-767, 2010.
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[PubMed: 20179738]
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[Full Text: https://doi.org/10.1038/ejhg.2010.11]
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</li>
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<li>
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<p class="mim-text-font">
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Fleischer, B.
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<strong>Abnorme Kleinheit und Kugelgestalt der Linse bei zwei Geschwisterpaaren.</strong>
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Arch. Augenheilkd. 80: 248 only, 1916.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Franceschetti, A.
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<strong>Ueber Mikrophakie und deren Erbgang.</strong>
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Klin. Monatsbl. Augenheilkd. 85: 285 only, 1930.
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</p>
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<li>
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<p class="mim-text-font">
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Gil, R. R.
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<strong>Familiaere Microphakie.</strong>
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Klin. Monatsbl. Augenheilkd. 85: 285 only, 1928.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Khan, A. O., Aldahmesh, M. A., Alkuraya, F. S.
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<strong>Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma--a distinct phenotype caused by recessive LTBP2 mutations.</strong>
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Molec. Vis. 17: 2570-2579, 2011.
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[PubMed: 22025892]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Kumar, A., Duvvari, M. R., Prabhakaran, V. C., Shetty, J. S., Murthy, G. J., Blanton, S. H.
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<strong>A homozygous mutation in LTBP2 causes isolated microspherophakia.</strong>
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Hum. Genet. 128: 365-371, 2010.
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[PubMed: 20617341]
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[Full Text: https://doi.org/10.1007/s00439-010-0858-8]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 6/1/2012<br>Marla J. F. O'Neill - updated : 8/5/2010<br>Marla J. F. O'Neill - updated : 8/3/2010
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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 : 6/4/1986
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Edit History:
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alopez : 07/21/2021<br>carol : 06/01/2012<br>carol : 6/1/2012<br>terry : 5/22/2012<br>joanna : 5/4/2012<br>terry : 11/16/2010<br>carol : 8/18/2010<br>carol : 8/5/2010<br>terry : 8/5/2010<br>wwang : 8/3/2010<br>mimadm : 2/19/1994<br>supermim : 3/17/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>reenie : 6/4/1986
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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