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<title>
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Entry
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- #136520 - FOVEAL HYPOPLASIA 1; FVH1
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- OMIM
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<span class="h4">#136520</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/136520"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS136520"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</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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<div><a href="https://clinicaltrials.gov/search?cond=(FOVEAL HYPOPLASIA) OR (PAX6)" 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=512&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.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2253" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0070530" 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/136520" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0070530" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<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> 2253<br />
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<strong>DO:</strong> 0070530<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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136520
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</span>
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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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FOVEAL HYPOPLASIA 1; FVH1
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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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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT
|
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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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<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
|
|
</th>
|
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<th>
|
|
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>
|
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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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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/11/282?start=-3&limit=10&highlight=282">
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11p13
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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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Foveal hypoplasia 1
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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/136520"> 136520 </a>
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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PAX6
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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/607108"> 607108 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/136520" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
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<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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|
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<div class="btn-group">
|
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|
|
<a href="/phenotypicSeries/PS136520" class="btn btn-info" role="button"> Phenotypic Series </a>
|
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|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
|
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/136520" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/136520" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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|
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Foveal hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007750</a>]</span><br /> -
|
|
Presenile cataract <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/441622000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">441622000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0154971&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0154971</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007819</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007819</a>]</span><br /> -
|
|
Subnormal visual acuity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315951&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315951</a>]</span><br /> -
|
|
Congenital nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64635004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64635004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.01</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700501&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700501</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006934" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006934</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006934" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006934</a>]</span><br /> -
|
|
Peripheral corneal pannus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315950&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315950</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the paired box homeotic gene 6 (PAX6, <a href="/entry/607108#0012">607108.0012</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
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|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
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|
|
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|
|
|
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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
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|
|
|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Foveal hypoplasia
|
|
- <a href="/phenotypicSeries/PS136520">PS136520</a>
|
|
- 3 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/89?start=-3&limit=10&highlight=89"> 7p21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620958"> Foveal hypoplasia 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620958"> 620958 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600253"> AHR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600253"> 600253 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/282?start=-3&limit=10&highlight=282"> 11p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/136520"> Foveal hypoplasia 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/136520"> 136520 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607108"> PAX6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607108"> 607108 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/689?start=-3&limit=10&highlight=689"> 16q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609218"> Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609218"> 609218 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615585"> SLC38A8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615585"> 615585 </a>
|
|
</span>
|
|
</td>
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<p>A number sign (#) is used with this entry because foveal hypoplasia-1 with or without anterior segment anomalies and/or cataract (FVH1) is caused by heterozygous mutation in the PAX6 gene (<a href="/entry/607108">607108</a>) on chromosome 11p13.</p>
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<p>Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (<a href="/entry/106210">106210</a>), microphthalmia (see <a href="/entry/251600">251600</a>), albinism (see <a href="/entry/203100">203100</a>), or achromatopsia (see <a href="/entry/216900">216900</a>). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by <a href="#6" class="mim-tip-reference" title="Perez, Y., Gradstein, L., Flusser, H., Markus, B., Cohen, I., Langer, Y., Marcus, M., Lifshitz, T., Kadir, R., Birk, O. S. <strong>Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.</strong> Europ. J. Hum. Genet. 22: 703-706, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24045842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24045842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24045842[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.2013.212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24045842">Perez et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24045842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Foveal Hypoplasia</em></strong></p><p>
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Foveal hypoplasia-2 (FVH2; <a href="/entry/609218">609218</a>) is caused by mutation in the SLC38A8 gene (<a href="/entry/615585">615585</a>) on chromosome 16q23. Foveal hypoplasia-3 (FVH3; <a href="/entry/620958">620958</a>) is caused by mutation in the AHR gene (<a href="/entry/600253">600253</a>) on chromosome 7p21.</p>
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<p><a href="#2" class="mim-tip-reference" title="Curran, R. E., Robb, R. M. <strong>Isolated foveal hypoplasia.</strong> Arch. Ophthal. 94: 48-50, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1247409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1247409</a>] [<a href="https://doi.org/10.1001/archopht.1976.03910030014005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1247409">Curran and Robb (1976)</a> noted that defective development of the fovea usually occurs in patients with aniridia or albinism. However, they reported 9 patients with foveal hypoplasia with varying degrees of congenital nystagmus and poor visual acuity, but no evidence of aniridia or albinism. They suggested that isolated foveal hypoplasia may be more common than previously believed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1247409" 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="Oliver, M. D., Dotan, S. A., Chemke, J., Abraham, F. A. <strong>Isolated foveal hypoplasia.</strong> Brit. J. Ophthal. 71: 926-930, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3427001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3427001</a>] [<a href="https://doi.org/10.1136/bjo.71.12.926" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3427001">Oliver et al. (1987)</a> reported 15 patients with isolated foveal hypoplasia. Characteristic associated findings included poor visual acuity, nystagmus, absent or abnormal maculofoveal reflexes, unclear definition of the maculofoveal area, and capillaries running abnormally close to the presumed macular area. The authors noted that the fundal findings are difficult to detect and also suggested that isolated foveal hypoplasia may be more common than generally believed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3427001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="O'Donnell, F. E., Jr., Pappas, H. R. <strong>Autosomal dominant foveal hypoplasia and presenile cataracts: a new syndrome.</strong> Arch. Ophthal. 100: 279-281, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7065945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7065945</a>] [<a href="https://doi.org/10.1001/archopht.1982.01030030281009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7065945">O'Donnell and Pappas (1982)</a> described a family in which 7 persons over 4 generations had mild foveal hypoplasia, presenile cataract (onset before age 40 years), and peripheral corneal pannus. There were 2 instances of male-to-male transmission, suggesting autosomal dominant inheritance. Corneal pannus was described as 'a small peripheral margin of pannus, about 1 mm in width, for 360 degrees.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7065945" 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="#1" class="mim-tip-reference" title="Azuma, N., Nishina, S., Yanagisawa, H., Okuyama, T., Yamada, M. <strong>PAX6 missense mutation in isolated foveal hypoplasia. (Letter)</strong> Nature Genet. 13: 141-142, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8640214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8640214</a>] [<a href="https://doi.org/10.1038/ng0696-141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8640214">Azuma et al. (1996)</a> reported a family in which 5 individuals over 3 generations were affected with isolated foveal hypoplasia. All affected members had poorly defined foveal regions with a normal cornea and iris. In addition, all members had poor visual acuity and nystagmus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8640214" 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="Hanson, I., Churchill, A., Love, J., Axton, R., Moore, T., Clarke, M., Meire, F., van Heyningen, V. <strong>Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.</strong> Hum. Molec. Genet. 8: 165-172, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9931324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9931324</a>] [<a href="https://doi.org/10.1093/hmg/8.2.165" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9931324">Hanson et al. (1999)</a> reported 3 members in a family who were affected with dominantly inherited congenital nystagmus. In addition, the proband and her mother also had congenital bilateral cataracts, corneal epithelial changes, and foveal hypoplasia. The proband's brother had congenital nystagmus and mild lens opacities. <a href="#3" class="mim-tip-reference" title="Hanson, I., Churchill, A., Love, J., Axton, R., Moore, T., Clarke, M., Meire, F., van Heyningen, V. <strong>Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.</strong> Hum. Molec. Genet. 8: 165-172, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9931324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9931324</a>] [<a href="https://doi.org/10.1093/hmg/8.2.165" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9931324">Hanson et al. (1999)</a> suggested that the phenotype in this family resembled the syndrome reported by <a href="#4" class="mim-tip-reference" title="O'Donnell, F. E., Jr., Pappas, H. R. <strong>Autosomal dominant foveal hypoplasia and presenile cataracts: a new syndrome.</strong> Arch. Ophthal. 100: 279-281, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7065945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7065945</a>] [<a href="https://doi.org/10.1001/archopht.1982.01030030281009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7065945">O'Donnell and Pappas (1982)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9931324+7065945" 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="Recchia, F. M., Carvalho-Recchia, C. A., Trese, M. T. <strong>Optical coherence tomography in the diagnosis of foveal hypoplasia.</strong> Arch. Ophthal. 120: 1587-1588, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12427081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12427081</a>]" pmid="12427081">Recchia et al. (2002)</a> reported a woman with poor vision and nystagmus who was found to have a 1-mm corneal pannus encompassing the superior 270 degrees of each eye, absent foveal reflexes, and an ill-defined capillary-free zone. Her paternal grandmother, father, and sister reportedly had poor vision, nystagmus, and early cataracts, which <a href="#7" class="mim-tip-reference" title="Recchia, F. M., Carvalho-Recchia, C. A., Trese, M. T. <strong>Optical coherence tomography in the diagnosis of foveal hypoplasia.</strong> Arch. Ophthal. 120: 1587-1588, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12427081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12427081</a>]" pmid="12427081">Recchia et al. (2002)</a> suggested was most compatible with the syndrome reported by <a href="#4" class="mim-tip-reference" title="O'Donnell, F. E., Jr., Pappas, H. R. <strong>Autosomal dominant foveal hypoplasia and presenile cataracts: a new syndrome.</strong> Arch. Ophthal. 100: 279-281, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7065945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7065945</a>] [<a href="https://doi.org/10.1001/archopht.1982.01030030281009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7065945">O'Donnell and Pappas (1982)</a>. Optical coherence tomography (OCT) showed preservation of multiple inner retinal layers where there should have been none, indicating that the fovea was thicker than normal. The authors suggested that a more accurate term would be 'foveal dysgenesis,' and proposed that OCT might prove helpful in the evaluation of patients with unexplained visual loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12427081+7065945" 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>Male-to-male transmission in the family with foveal hypoplasia reported by <a href="#4" class="mim-tip-reference" title="O'Donnell, F. E., Jr., Pappas, H. R. <strong>Autosomal dominant foveal hypoplasia and presenile cataracts: a new syndrome.</strong> Arch. Ophthal. 100: 279-281, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7065945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7065945</a>] [<a href="https://doi.org/10.1001/archopht.1982.01030030281009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7065945">O'Donnell and Pappas (1982)</a> suggested autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7065945" 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 family with isolated foveal hypoplasia, <a href="#1" class="mim-tip-reference" title="Azuma, N., Nishina, S., Yanagisawa, H., Okuyama, T., Yamada, M. <strong>PAX6 missense mutation in isolated foveal hypoplasia. (Letter)</strong> Nature Genet. 13: 141-142, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8640214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8640214</a>] [<a href="https://doi.org/10.1038/ng0696-141" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8640214">Azuma et al. (1996)</a> identified a heterozygous missense mutation in the PAX6 gene (<a href="/entry/607108#0012">607108.0012</a>) that segregated with the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8640214" 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 affected members of a family with foveal hypoplasia and presenile cataracts, <a href="#3" class="mim-tip-reference" title="Hanson, I., Churchill, A., Love, J., Axton, R., Moore, T., Clarke, M., Meire, F., van Heyningen, V. <strong>Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.</strong> Hum. Molec. Genet. 8: 165-172, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9931324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9931324</a>] [<a href="https://doi.org/10.1093/hmg/8.2.165" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9931324">Hanson et al. (1999)</a> identified a heterozygous mutation in the PAX6 gene (<a href="/entry/607108#0014">607108.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9931324" 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 affected members of a family with foveal hypoplasia, congenital nystagmus, and anterior segment anomalies (mainly iris hypoplasia or atypical coloboma), <a href="#8" class="mim-tip-reference" title="Vincent, M-C., Gallai, R., Olivier, D., Speeg-Schatz, C., Flament, J., Calvas, P., Dollfus, H. <strong>Variable phenotype related to a novel PAX 6 mutation (IVS4+5G-to-C) in a family presenting congenital nystagmus and foveal hypoplasia.</strong> Am. J. Ophthal. 138: 1016-1021, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15629294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15629294</a>] [<a href="https://doi.org/10.1016/j.ajo.2004.08.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15629294">Vincent et al. (2004)</a> identified a heterozygous splice mutation in the PAX6 gene (<a href="/entry/607108#0021">607108.0021</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15629294" 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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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<ol>
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<li>
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<a id="1" class="mim-anchor"></a>
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<a id="Azuma1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Azuma, N., Nishina, S., Yanagisawa, H., Okuyama, T., Yamada, M.
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<strong>PAX6 missense mutation in isolated foveal hypoplasia. (Letter)</strong>
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Nature Genet. 13: 141-142, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8640214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8640214</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8640214" 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/ng0696-141" target="_blank">Full Text</a>]
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</p>
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<a id="2" class="mim-anchor"></a>
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<a id="Curran1976" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Curran, R. E., Robb, R. M.
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<strong>Isolated foveal hypoplasia.</strong>
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Arch. Ophthal. 94: 48-50, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1247409/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1247409</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1247409" 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.1976.03910030014005" target="_blank">Full Text</a>]
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</p>
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<a id="3" class="mim-anchor"></a>
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<a id="Hanson1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Hanson, I., Churchill, A., Love, J., Axton, R., Moore, T., Clarke, M., Meire, F., van Heyningen, V.
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<strong>Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.</strong>
|
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Hum. Molec. Genet. 8: 165-172, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9931324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9931324</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9931324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/8.2.165" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="4" class="mim-anchor"></a>
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<a id="O'Donnell1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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O'Donnell, F. E., Jr., Pappas, H. R.
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<strong>Autosomal dominant foveal hypoplasia and presenile cataracts: a new syndrome.</strong>
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|
Arch. Ophthal. 100: 279-281, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7065945/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7065945</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7065945" 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.1982.01030030281009" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Oliver1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Oliver, M. D., Dotan, S. A., Chemke, J., Abraham, F. A.
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<strong>Isolated foveal hypoplasia.</strong>
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Brit. J. Ophthal. 71: 926-930, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3427001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3427001</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3427001" 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.71.12.926" 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="6" class="mim-anchor"></a>
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<a id="Perez2014" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Perez, Y., Gradstein, L., Flusser, H., Markus, B., Cohen, I., Langer, Y., Marcus, M., Lifshitz, T., Kadir, R., Birk, O. S.
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<strong>Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.</strong>
|
|
Europ. J. Hum. Genet. 22: 703-706, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24045842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24045842</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24045842[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=24045842" 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.2013.212" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Recchia2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Recchia, F. M., Carvalho-Recchia, C. A., Trese, M. T.
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<strong>Optical coherence tomography in the diagnosis of foveal hypoplasia.</strong>
|
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Arch. Ophthal. 120: 1587-1588, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12427081/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12427081</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12427081" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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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="Vincent2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vincent, M-C., Gallai, R., Olivier, D., Speeg-Schatz, C., Flament, J., Calvas, P., Dollfus, H.
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<strong>Variable phenotype related to a novel PAX 6 mutation (IVS4+5G-to-C) in a family presenting congenital nystagmus and foveal hypoplasia.</strong>
|
|
Am. J. Ophthal. 138: 1016-1021, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15629294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15629294</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15629294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajo.2004.08.003" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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 : 3/26/2014
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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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Jane Kelly - updated : 4/7/2005<br>Cassandra L. Kniffin - reorganized : 10/31/2003<br>Jane Kelly - updated : 10/31/2003<br>Cassandra L. Kniffin - updated : 10/30/2003<br>Victor A. McKusick - updated : 3/9/1999
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</span>
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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 : 6/4/1986
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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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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<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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alopez : 09/23/2024
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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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alopez : 12/04/2014<br>mcolton : 8/12/2014<br>carol : 7/22/2014<br>carol : 7/21/2014<br>carol : 3/27/2014<br>mcolton : 3/26/2014<br>mgross : 4/7/2005<br>mgross : 4/7/2005<br>tkritzer : 12/11/2003<br>carol : 10/31/2003<br>carol : 10/31/2003<br>carol : 10/31/2003<br>ckniffin : 10/30/2003<br>ckniffin : 8/27/2002<br>carol : 3/25/1999<br>terry : 3/9/1999<br>mark : 5/30/1996<br>terry : 5/29/1996<br>mimadm : 9/24/1994<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>reenie : 6/25/1986
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</span>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 136520
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</h3>
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<div>
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<h3>
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<span class="mim-font">
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FOVEAL HYPOPLASIA 1; FVH1
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT
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</span>
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</h4>
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<span class="mim-text-font">
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<strong>ORPHA:</strong> 2253;
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<strong>DO:</strong> 0070530;
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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 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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11p13
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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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Foveal hypoplasia 1
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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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136520
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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 dominant
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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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<td>
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<span class="mim-font">
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PAX6
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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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607108
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</span>
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</td>
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</tbody>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because foveal hypoplasia-1 with or without anterior segment anomalies and/or cataract (FVH1) is caused by heterozygous mutation in the PAX6 gene (607108) on chromosome 11p13.</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>Description</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>Foveal hypoplasia is defined as the lack of foveal depression with continuity of all neurosensory retinal layers in the presumed foveal area. Foveal hypoplasia as an isolated entity is a rare phenomenon; it is usually described in association with other ocular disorders, such as aniridia (106210), microphthalmia (see 251600), albinism (see 203100), or achromatopsia (see 216900). All reported cases of foveal hypoplasia have been accompanied by decreased visual acuity and nystagmus (summary by Perez et al., 2014). </p><p><strong><em>Genetic Heterogeneity of Foveal Hypoplasia</em></strong></p><p>
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Foveal hypoplasia-2 (FVH2; 609218) is caused by mutation in the SLC38A8 gene (615585) on chromosome 16q23. Foveal hypoplasia-3 (FVH3; 620958) is caused by mutation in the AHR gene (600253) on chromosome 7p21.</p>
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<strong>Clinical Features</strong>
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<p>Curran and Robb (1976) noted that defective development of the fovea usually occurs in patients with aniridia or albinism. However, they reported 9 patients with foveal hypoplasia with varying degrees of congenital nystagmus and poor visual acuity, but no evidence of aniridia or albinism. They suggested that isolated foveal hypoplasia may be more common than previously believed. </p><p>Oliver et al. (1987) reported 15 patients with isolated foveal hypoplasia. Characteristic associated findings included poor visual acuity, nystagmus, absent or abnormal maculofoveal reflexes, unclear definition of the maculofoveal area, and capillaries running abnormally close to the presumed macular area. The authors noted that the fundal findings are difficult to detect and also suggested that isolated foveal hypoplasia may be more common than generally believed. </p><p>O'Donnell and Pappas (1982) described a family in which 7 persons over 4 generations had mild foveal hypoplasia, presenile cataract (onset before age 40 years), and peripheral corneal pannus. There were 2 instances of male-to-male transmission, suggesting autosomal dominant inheritance. Corneal pannus was described as 'a small peripheral margin of pannus, about 1 mm in width, for 360 degrees.' </p><p>Azuma et al. (1996) reported a family in which 5 individuals over 3 generations were affected with isolated foveal hypoplasia. All affected members had poorly defined foveal regions with a normal cornea and iris. In addition, all members had poor visual acuity and nystagmus. </p><p>Hanson et al. (1999) reported 3 members in a family who were affected with dominantly inherited congenital nystagmus. In addition, the proband and her mother also had congenital bilateral cataracts, corneal epithelial changes, and foveal hypoplasia. The proband's brother had congenital nystagmus and mild lens opacities. Hanson et al. (1999) suggested that the phenotype in this family resembled the syndrome reported by O'Donnell and Pappas (1982). </p><p>Recchia et al. (2002) reported a woman with poor vision and nystagmus who was found to have a 1-mm corneal pannus encompassing the superior 270 degrees of each eye, absent foveal reflexes, and an ill-defined capillary-free zone. Her paternal grandmother, father, and sister reportedly had poor vision, nystagmus, and early cataracts, which Recchia et al. (2002) suggested was most compatible with the syndrome reported by O'Donnell and Pappas (1982). Optical coherence tomography (OCT) showed preservation of multiple inner retinal layers where there should have been none, indicating that the fovea was thicker than normal. The authors suggested that a more accurate term would be 'foveal dysgenesis,' and proposed that OCT might prove helpful in the evaluation of patients with unexplained visual loss. </p>
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<strong>Inheritance</strong>
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<p>Male-to-male transmission in the family with foveal hypoplasia reported by O'Donnell and Pappas (1982) suggested autosomal dominant inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In a family with isolated foveal hypoplasia, Azuma et al. (1996) identified a heterozygous missense mutation in the PAX6 gene (607108.0012) that segregated with the phenotype. </p><p>In affected members of a family with foveal hypoplasia and presenile cataracts, Hanson et al. (1999) identified a heterozygous mutation in the PAX6 gene (607108.0014). </p><p>In affected members of a family with foveal hypoplasia, congenital nystagmus, and anterior segment anomalies (mainly iris hypoplasia or atypical coloboma), Vincent et al. (2004) identified a heterozygous splice mutation in the PAX6 gene (607108.0021). </p>
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
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Azuma, N., Nishina, S., Yanagisawa, H., Okuyama, T., Yamada, M.
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<strong>PAX6 missense mutation in isolated foveal hypoplasia. (Letter)</strong>
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Nature Genet. 13: 141-142, 1996.
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[PubMed: 8640214]
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[Full Text: https://doi.org/10.1038/ng0696-141]
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Curran, R. E., Robb, R. M.
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<strong>Isolated foveal hypoplasia.</strong>
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Arch. Ophthal. 94: 48-50, 1976.
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[PubMed: 1247409]
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[Full Text: https://doi.org/10.1001/archopht.1976.03910030014005]
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Hanson, I., Churchill, A., Love, J., Axton, R., Moore, T., Clarke, M., Meire, F., van Heyningen, V.
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<strong>Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.</strong>
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Hum. Molec. Genet. 8: 165-172, 1999.
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[PubMed: 9931324]
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[Full Text: https://doi.org/10.1093/hmg/8.2.165]
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<li>
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<p class="mim-text-font">
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O'Donnell, F. E., Jr., Pappas, H. R.
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<strong>Autosomal dominant foveal hypoplasia and presenile cataracts: a new syndrome.</strong>
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Arch. Ophthal. 100: 279-281, 1982.
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[PubMed: 7065945]
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[Full Text: https://doi.org/10.1001/archopht.1982.01030030281009]
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<p class="mim-text-font">
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Oliver, M. D., Dotan, S. A., Chemke, J., Abraham, F. A.
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<strong>Isolated foveal hypoplasia.</strong>
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Brit. J. Ophthal. 71: 926-930, 1987.
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[PubMed: 3427001]
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[Full Text: https://doi.org/10.1136/bjo.71.12.926]
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<p class="mim-text-font">
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Perez, Y., Gradstein, L., Flusser, H., Markus, B., Cohen, I., Langer, Y., Marcus, M., Lifshitz, T., Kadir, R., Birk, O. S.
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<strong>Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.</strong>
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Europ. J. Hum. Genet. 22: 703-706, 2014.
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[PubMed: 24045842]
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[Full Text: https://doi.org/10.1038/ejhg.2013.212]
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Recchia, F. M., Carvalho-Recchia, C. A., Trese, M. T.
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<strong>Optical coherence tomography in the diagnosis of foveal hypoplasia.</strong>
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Arch. Ophthal. 120: 1587-1588, 2002.
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[PubMed: 12427081]
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Vincent, M-C., Gallai, R., Olivier, D., Speeg-Schatz, C., Flament, J., Calvas, P., Dollfus, H.
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<strong>Variable phenotype related to a novel PAX 6 mutation (IVS4+5G-to-C) in a family presenting congenital nystagmus and foveal hypoplasia.</strong>
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Am. J. Ophthal. 138: 1016-1021, 2004.
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[PubMed: 15629294]
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[Full Text: https://doi.org/10.1016/j.ajo.2004.08.003]
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Marla J. F. O'Neill - updated : 3/26/2014<br>Jane Kelly - updated : 4/7/2005<br>Cassandra L. Kniffin - reorganized : 10/31/2003<br>Jane Kelly - updated : 10/31/2003<br>Cassandra L. Kniffin - updated : 10/30/2003<br>Victor A. McKusick - updated : 3/9/1999
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