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<title>
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Entry
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- #610612 - LEBER CONGENITAL AMAUROSIS 12; LCA12
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- OMIM
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<span class="h4">#610612</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS204000"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK531510/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110080" 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/610612" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001260/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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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> 65<br />
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<strong>DO:</strong> 0110080<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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610612
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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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LEBER CONGENITAL AMAUROSIS 12; LCA12
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</span>
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</h3>
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</div>
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<div>
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<br />
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<a id="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>
|
|
Gene/Locus <br /> MIM number
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
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|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/1678?start=-3&limit=10&highlight=1678">
|
|
1q32.3
|
|
</a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
Leber congenital amaurosis 12
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/610612"> 610612 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<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">
|
|
RD3
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/180040"> 180040 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
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|
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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/610612" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<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>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
|
</div>
|
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|
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<div class="btn-group">
|
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|
|
<a href="/phenotypicSeries/PS204000" 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>
|
|
<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/610612" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/610612" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</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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|
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
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|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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>
|
|
</div>
|
|
|
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</div>
|
|
|
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Absence of ocular pursuit since birth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230071&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230071</a>]</span><br /> -
|
|
Digitoocular sign of Franceschetti <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230070&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230070</a>]</span><br /> -
|
|
Progressively decreasing vision to light perception only <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230069&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230069</a>]</span><br /> -
|
|
Glare sensitivity or photoaversion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230068&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230068</a>]</span><br /> -
|
|
Decreased color vision <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230067&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230067</a>]</span><br /> -
|
|
Severe nystagmus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230066&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230066</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
|
|
Sluggish pupillary reflexes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279237&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279237</a>]</span><br /> -
|
|
Hypermetropic refraction progressing to myopic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230065&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230065</a>]</span><br /> -
|
|
Dull retina <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230064&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230064</a>]</span><br /> -
|
|
Salt-and-pepper appearance to retina <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230063</a>]</span><br /> -
|
|
Attenuated retinal vessels <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151109</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007843" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007843</a>]</span><br /> -
|
|
Loss of macular reflex progressing to bull's eye lesion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230062&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230062</a>]</span><br /> -
|
|
Maculopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422338006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422338006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312999006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312999006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0730362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0730362</a>, <a href="https://bioportal.bioontology.org/search?q=C0024437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024437</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000608" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000608</a>]</span><br /> -
|
|
Hammer-beaten appearance of peripheral fundus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230061&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230061</a>]</span><br /> -
|
|
Bone spicules in peripheral fundus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230060&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230060</a>]</span><br /> -
|
|
Disorganization of all retinal layers on ocular coherence tomography (OCT) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230059&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230059</a>]</span><br /> -
|
|
Displacement of external limiting membrane on OCT <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230058&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230058</a>]</span><br /> -
|
|
Absence of photoreceptor layer <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230057&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230057</a>]</span><br /> -
|
|
Marked reduction in thickness of outer and inner plexiform layers on OCT <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230056&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230056</a>]</span><br /> -
|
|
Marked reduction in thickness of inner nuclear layer on OCT <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230055</a>]</span><br /> -
|
|
Thinning of ganglion cell layer on OCT <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230054&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230054</a>]</span><br /> -
|
|
Thinning of nerve fiber layers on OCT <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230053</a>]</span><br /> -
|
|
Severe constriction of visual fields <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230052&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230052</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1151008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1151008</a>]</span><br /> -
|
|
Severely reduced fundus autofluorescence <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4227351&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4227351</a>]</span><br /> -
|
|
Nonrecordable responses on electroretinography <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230051</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
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|
|
|
|
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|
|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Funduscopy before 2 years of age is unremarkable<br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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|
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</div>
|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the RD3 regulator of GUCY2D gene (RD3, <a href="/entry/180040#0001">180040.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
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|
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</div>
|
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|
|
</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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|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
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|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Leber congenital amaurosis
|
|
- <a href="/phenotypicSeries/PS204000">PS204000</a>
|
|
- 26 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/1/132?start=-3&limit=10&highlight=132"> 1p36.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608553"> Leber congenital amaurosis 9 </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/608553"> 608553 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608700"> NMNAT1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608700"> 608700 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/706?start=-3&limit=10&highlight=706"> 1p31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/204100"> Leber congenital amaurosis 2 </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/204100"> 204100 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180069"> RPE65 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180069"> 180069 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1536?start=-3&limit=10&highlight=1536"> 1q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613835"> Leber congenital amaurosis 8 </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/613835"> 613835 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604210"> CRB1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604210"> 604210 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1678?start=-3&limit=10&highlight=1678"> 1q32.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610612"> Leber congenital amaurosis 12 </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/610612"> 610612 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180040"> RD3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180040"> 180040 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1119?start=-3&limit=10&highlight=1119"> 2q37.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614186"> Leber congenital amaurosis 16 </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/614186"> 614186 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603208"> KCNJ13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603208"> 603208 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/623?start=-3&limit=10&highlight=623"> 4q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613341"> Retinal dystrophy, early-onset severe </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/613341"> 613341 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604863"> LRAT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604863"> 604863 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/623?start=-3&limit=10&highlight=623"> 4q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613341"> Leber congenital amaurosis 14 </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/613341"> 613341 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604863"> LRAT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604863"> 604863 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/623?start=-3&limit=10&highlight=623"> 4q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613341"> Retinitis pigmentosa, juvenile </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/613341"> 613341 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604863"> LRAT </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604863"> 604863 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/430?start=-3&limit=10&highlight=430"> 6p21.31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613843"> Leber congenital amaurosis 15 </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/613843"> 613843 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602280"> TULP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602280"> 602280 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/502?start=-3&limit=10&highlight=502"> 6p21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608133"> Leber congenital amaurosis 18 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</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/608133"> 608133 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/179605"> PRPH2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/179605"> 179605 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/502?start=-3&limit=10&highlight=502"> 6p21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608133"> Retinitis pigmentosa 7 and digenic form </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</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/608133"> 608133 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/179605"> PRPH2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/179605"> 179605 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/665?start=-3&limit=10&highlight=665"> 6q14.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604537"> Leber congenital amaurosis 5 </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/604537"> 604537 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611408"> LCA5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611408"> 611408 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/726?start=-3&limit=10&highlight=726"> 6q16.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618513"> ?Leber congenital amaurosis 19 </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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<a href="/entry/618513"> 618513 </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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<a href="/entry/618439"> USP45 </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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<a href="/entry/618439"> 618439 </a>
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</span>
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</td>
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</tr>
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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/7/651?start=-3&limit=10&highlight=651"> 7q32.1 </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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<a href="/entry/613837"> Leber congenital amaurosis 11 </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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<a href="/entry/613837"> 613837 </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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<a href="/entry/146690"> IMPDH1 </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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<a href="/entry/146690"> 146690 </a>
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</span>
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</td>
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</tr>
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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/8/420?start=-3&limit=10&highlight=420"> 8q22.1 </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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|
<a href="/entry/615360"> Leber congenital amaurosis 17 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
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</span>
|
|
</td>
|
|
<td>
|
|
<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>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615360"> 615360 </a>
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</span>
|
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</td>
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|
<td>
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|
<span class="mim-font">
|
|
<a href="/entry/601147"> GDF6 </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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|
<a href="/entry/601147"> 601147 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
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<span class="mim-font">
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|
<a href="/geneMap/11/482?start=-3&limit=10&highlight=482"> 11q12.3 </a>
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608133"> Retinitis pigmentosa 7, digenic form </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</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/608133"> 608133 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180721"> ROM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
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|
<span class="mim-font">
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|
<a href="/entry/180721"> 180721 </a>
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</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/664?start=-3&limit=10&highlight=664"> 12q21.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611755"> Leber congenital amaurosis 10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</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/611755"> 611755 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610142"> CEP290 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610142"> 610142 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/52?start=-3&limit=10&highlight=52"> 14q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613826"> Leber congenital amaurosis 6 </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/613826"> 613826 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605446"> RPGRIP1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605446"> 605446 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/332?start=-3&limit=10&highlight=332"> 14q24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612712"> Leber congenital amaurosis 13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612712"> 612712 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608830"> RDH12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608830"> 608830 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/437?start=-3&limit=10&highlight=437"> 14q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604232"> Leber congenital amaurosis 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/604232"> 604232 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609868"> SPATA7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609868"> 609868 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/437?start=-3&limit=10&highlight=437"> 14q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604232"> Retinitis pigmentosa 94, variable age at onset, autosomal recessive </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/604232"> 604232 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609868"> SPATA7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609868"> 609868 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/115?start=-3&limit=10&highlight=115"> 17p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604393"> Retinitis pigmentosa, juvenile </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604393"> 604393 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604392"> AIPL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604392"> 604392 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/115?start=-3&limit=10&highlight=115"> 17p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604393"> Leber congenital amaurosis 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604393"> 604393 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604392"> AIPL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604392"> 604392 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/115?start=-3&limit=10&highlight=115"> 17p13.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604393"> Cone-rod dystrophy </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604393"> 604393 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604392"> AIPL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604392"> 604392 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/186?start=-3&limit=10&highlight=186"> 17p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/204000"> Leber congenital amaurosis 1 </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/204000"> 204000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600179"> GUCY2D </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600179"> 600179 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/881?start=-3&limit=10&highlight=881"> 19q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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<a href="/entry/613829"> Leber congenital amaurosis 7 </a>
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<p>A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-12 (LCA12) is caused by homozygous mutation in the RD3 gene (<a href="/entry/180040">180040</a>) on chromosome 1q32.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of LCA, see LCA1 (<a href="/entry/204000">204000</a>).</p>
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<p>Leber congenital amaurosis-12 (LCA12) is characterized by congenital nystagmus, low vision, sluggish pupillary reflexes, absence of ocular pursuit from birth, early onset and long-lasting digitoocular signs of Franceschetti, and mild to moderate hyperopia. Photoaversion is usually present. Visual acuity, when measurable, is reduced to counting fingers, hand movements, or light perception (summary by <a href="#2" class="mim-tip-reference" title="Perrault, I., Estrada-Cuzcano, A., Lopez, I., Kohl, S., Li, S., Testa, F., Zekveld-Vroon, R., Wang, X., Pomares, E., Andorf, J., Aboussair, N., Banfi, S., and 23 others. <strong>Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.</strong> PLoS One 8: e51622, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23308101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23308101</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23308101[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/10.1371/journal.pone.0051622" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23308101">Perrault et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23308101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Friedman, J. S., Chang, B., Kannabiran, C., Chakarova, C., Singh, H. P., Jalali, S., Hawes, N. L., Branham, K., Othman, M., Filippova, E., Thompson, D. A., Webster, A. R., Andreasson, S., Jacobson, S. G., Bhattacharya, S. S., Heckenlively, J. R., Swaroop, A. <strong>Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.</strong> Am. J. Hum. Genet. 79: 1059-1070, 2006. Note: Erratum: Am. J. Hum. Genet. 80: 388 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17186464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17186464</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17186464[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/10.1086/510021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17186464">Friedman et al. (2006)</a> identified a sister and brother with Leber congenital amaurosis from a consanguineous Indian family. Both probands had had poor vision since birth. Nystagmus and atrophic lesions in the macular area with pigment migration were found on examination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17186464" 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="Preising, M. N., Hausotter-Will, N., Solbach, M. C., Friedburg, C., Ruschendorf, F., Lorenz, B. <strong>Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.</strong> Invest. Ophthal. Vis. Sci. 53: 3463-3472, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22531706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22531706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22531706[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/10.1167/iovs.12-9519" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22531706">Preising et al. (2012)</a> reported a large consanguineous Kurdish family with LCA, in which 6 of 7 affected individuals were available for study. All patients reported glare sensitivity and exhibited severe nystagmus. Pupillary reactions, which were always present, were sluggish in the index patient at his first examination at 4 months of age. Visual acuity decreased over time, resulting in light perception only; initial refraction was hypermetropic and became myopic over the course of the disease. Funduscopy before 2 years of age was unremarkable but later showed attenuated vessels and macular changes that progressed from loss of the macular wall reflex to a bull's-eye lesion with central yellow pigment in childhood. By the third decade of life, the patient had a peripheral fundus with a hammer-beaten appearance that later displayed bone spicules. Fundus autofluorescence, obtainable in only 1 patient at 7 years of age, was strongly reduced within the macula, diffusely increased in a broad ring around the macula, and faded toward the periphery. Optical coherence tomography (OCT) at a young age showed disorganization of all retinal layers; later OCT recordings revealed preservation of the external limiting membrane, although it was severely displaced, with a marked reduction in thickness of the outer and inner plexiform layers and the inner nuclear layer. Thinning of the ganglion cell and nerve fiber layers was also observed. The visual fields that could be measured in 5 patients showed a severe reduction, to 20 degrees or less. Electroretinographic responses in the 4 patients tested were nonrecordable. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22531706" 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="Perrault, I., Estrada-Cuzcano, A., Lopez, I., Kohl, S., Li, S., Testa, F., Zekveld-Vroon, R., Wang, X., Pomares, E., Andorf, J., Aboussair, N., Banfi, S., and 23 others. <strong>Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.</strong> PLoS One 8: e51622, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23308101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23308101</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23308101[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/10.1371/journal.pone.0051622" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23308101">Perrault et al. (2013)</a> studied 9 patients from 7 unrelated families with mutations in the RD3 gene. Patients consistently presented with congenital nystagmus, low vision, sluggish pupillary reflexes, absence of ocular pursuit since birth, early-onset and long-lasting digitoocular sign of Franceschetti, photoaversion, and mild to moderate hyperopia. Visual acuity, when measurable, was reduced to counting fingers, hand movements, or light perception. Examination of the fundus consistently showed dull retina with salt-and-pepper aspect, thin retinal vessels, and early macular rearrangement (maculopathy). In 1 patient for whom OCT findings were available, the photoreceptor layer was missing, the inner/outer segment border was diminished, and an increased backscatter from the choroid was observed due to atrophy of the retinal pigment epithelium (RPE), in contrast to the relatively preserved inner retinal layers. Fundus autofluorescence was so severely reduced that no image could be produced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23308101" 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 large consanguineous Kurdish family with LCA, <a href="#3" class="mim-tip-reference" title="Preising, M. N., Hausotter-Will, N., Solbach, M. C., Friedburg, C., Ruschendorf, F., Lorenz, B. <strong>Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.</strong> Invest. Ophthal. Vis. Sci. 53: 3463-3472, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22531706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22531706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22531706[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/10.1167/iovs.12-9519" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22531706">Preising et al. (2012)</a> performed genomewide SNP analysis and obtained a lod score of 3.627 at chromosome 1q31-q32 (chr1:209,473,694-214,664,986, GRCh37). Recombination events narrowed the region of interest. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22531706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of LCA12 in the family reported by <a href="#1" class="mim-tip-reference" title="Friedman, J. S., Chang, B., Kannabiran, C., Chakarova, C., Singh, H. P., Jalali, S., Hawes, N. L., Branham, K., Othman, M., Filippova, E., Thompson, D. A., Webster, A. R., Andreasson, S., Jacobson, S. G., Bhattacharya, S. S., Heckenlively, J. R., Swaroop, A. <strong>Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.</strong> Am. J. Hum. Genet. 79: 1059-1070, 2006. Note: Erratum: Am. J. Hum. Genet. 80: 388 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17186464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17186464</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17186464[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/10.1086/510021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17186464">Friedman et al. (2006)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17186464" 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 881 probands with retinal dystrophy from North America, the United Kingdom, India, and Scandinavia, <a href="#1" class="mim-tip-reference" title="Friedman, J. S., Chang, B., Kannabiran, C., Chakarova, C., Singh, H. P., Jalali, S., Hawes, N. L., Branham, K., Othman, M., Filippova, E., Thompson, D. A., Webster, A. R., Andreasson, S., Jacobson, S. G., Bhattacharya, S. S., Heckenlively, J. R., Swaroop, A. <strong>Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.</strong> Am. J. Hum. Genet. 79: 1059-1070, 2006. Note: Erratum: Am. J. Hum. Genet. 80: 388 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17186464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17186464</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17186464[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/10.1086/510021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17186464">Friedman et al. (2006)</a> sequenced all coding exons and flanking intron/exon boundaries of the RD3 gene and identified homozygosity for a donor splice site mutation (<a href="/entry/180040#0001">180040.0001</a>) in a sister and brother from a consanguineous Indian family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17186464" 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 large consanguineous Kurdish family with LCA mapping to chromosome 1q32, <a href="#3" class="mim-tip-reference" title="Preising, M. N., Hausotter-Will, N., Solbach, M. C., Friedburg, C., Ruschendorf, F., Lorenz, B. <strong>Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.</strong> Invest. Ophthal. Vis. Sci. 53: 3463-3472, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22531706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22531706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22531706[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/10.1167/iovs.12-9519" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22531706">Preising et al. (2012)</a> directly sequenced the RD3 gene and identified homozygosity for a nonsense mutation (Y60X; <a href="/entry/180040#0002">180040.0002</a>) that segregated with disease in the family. Analysis of 85 unrelated patients with severe early-onset retinal dystrophy did not reveal any more causative RD3 mutations. <a href="#3" class="mim-tip-reference" title="Preising, M. N., Hausotter-Will, N., Solbach, M. C., Friedburg, C., Ruschendorf, F., Lorenz, B. <strong>Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.</strong> Invest. Ophthal. Vis. Sci. 53: 3463-3472, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22531706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22531706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22531706[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/10.1167/iovs.12-9519" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22531706">Preising et al. (2012)</a> concluded that sequence changes in the RD3 gene are a very rare cause of LCA that are associated with an extremely severe form of retinal dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22531706" 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>Using DNA samples from 852 unrelated patients ascertained worldwide with LCA or early-onset severe retinal degeneration, <a href="#2" class="mim-tip-reference" title="Perrault, I., Estrada-Cuzcano, A., Lopez, I., Kohl, S., Li, S., Testa, F., Zekveld-Vroon, R., Wang, X., Pomares, E., Andorf, J., Aboussair, N., Banfi, S., and 23 others. <strong>Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.</strong> PLoS One 8: e51622, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23308101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23308101</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23308101[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/10.1371/journal.pone.0051622" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23308101">Perrault et al. (2013)</a> screened the RD3 gene and identified homozygosity for 3 truncating mutations in 7 probands from consanguineous families: the same nonsense mutation (R38X; <a href="/entry/180040#0003">180040.0003</a>) was detected in 9 affected individuals from 5 families originating from the southern shores of the Mediterranean (2 Moroccan, 2 Turkish, and 1 Lebanese); a 2-bp deletion (<a href="/entry/180040#0004">180040.0004</a>) in an Algerian woman; and another nonsense mutation (E46X; <a href="/entry/180040#0005">180040.0005</a>) in a Mexican girl. <a href="#2" class="mim-tip-reference" title="Perrault, I., Estrada-Cuzcano, A., Lopez, I., Kohl, S., Li, S., Testa, F., Zekveld-Vroon, R., Wang, X., Pomares, E., Andorf, J., Aboussair, N., Banfi, S., and 23 others. <strong>Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.</strong> PLoS One 8: e51622, 2013. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23308101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23308101</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23308101[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/10.1371/journal.pone.0051622" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23308101">Perrault et al. (2013)</a> noted phenotypic overlap between LCA12 and LCA1, which is caused by mutation in the GUCY2D gene (<a href="/entry/600179">600179</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23308101" 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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Friedman, J. S., Chang, B., Kannabiran, C., Chakarova, C., Singh, H. P., Jalali, S., Hawes, N. L., Branham, K., Othman, M., Filippova, E., Thompson, D. A., Webster, A. R., Andreasson, S., Jacobson, S. G., Bhattacharya, S. S., Heckenlively, J. R., Swaroop, A.
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<strong>Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.</strong>
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Am. J. Hum. Genet. 79: 1059-1070, 2006. Note: Erratum: Am. J. Hum. Genet. 80: 388 only, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17186464/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17186464</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17186464[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=17186464" 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/10.1086/510021" target="_blank">Full Text</a>]
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Perrault, I., Estrada-Cuzcano, A., Lopez, I., Kohl, S., Li, S., Testa, F., Zekveld-Vroon, R., Wang, X., Pomares, E., Andorf, J., Aboussair, N., Banfi, S., and 23 others.
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<strong>Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.</strong>
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PLoS One 8: e51622, 2013. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23308101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23308101</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23308101[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=23308101" 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/10.1371/journal.pone.0051622" target="_blank">Full Text</a>]
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Preising, M. N., Hausotter-Will, N., Solbach, M. C., Friedburg, C., Ruschendorf, F., Lorenz, B.
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<strong>Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.</strong>
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Invest. Ophthal. Vis. Sci. 53: 3463-3472, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22531706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22531706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22531706[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=22531706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Marla J. F. O'Neill - updated : 4/20/2015
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Victor A. McKusick : 11/29/2006
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carol : 03/25/2024
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carol : 09/07/2022<br>carol : 12/08/2016<br>alopez : 04/22/2015<br>mcolton : 4/20/2015<br>carol : 4/12/2013<br>carol : 4/3/2009<br>alopez : 11/29/2006<br>alopez : 11/29/2006
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LEBER CONGENITAL AMAUROSIS 12; LCA12
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<strong>DO:</strong> 0110080;
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Leber congenital amaurosis 12
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RD3
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180040
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<p>A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-12 (LCA12) is caused by homozygous mutation in the RD3 gene (180040) on chromosome 1q32.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of LCA, see LCA1 (204000).</p>
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<p>Leber congenital amaurosis-12 (LCA12) is characterized by congenital nystagmus, low vision, sluggish pupillary reflexes, absence of ocular pursuit from birth, early onset and long-lasting digitoocular signs of Franceschetti, and mild to moderate hyperopia. Photoaversion is usually present. Visual acuity, when measurable, is reduced to counting fingers, hand movements, or light perception (summary by Perrault et al., 2013). </p>
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<p>Friedman et al. (2006) identified a sister and brother with Leber congenital amaurosis from a consanguineous Indian family. Both probands had had poor vision since birth. Nystagmus and atrophic lesions in the macular area with pigment migration were found on examination. </p><p>Preising et al. (2012) reported a large consanguineous Kurdish family with LCA, in which 6 of 7 affected individuals were available for study. All patients reported glare sensitivity and exhibited severe nystagmus. Pupillary reactions, which were always present, were sluggish in the index patient at his first examination at 4 months of age. Visual acuity decreased over time, resulting in light perception only; initial refraction was hypermetropic and became myopic over the course of the disease. Funduscopy before 2 years of age was unremarkable but later showed attenuated vessels and macular changes that progressed from loss of the macular wall reflex to a bull's-eye lesion with central yellow pigment in childhood. By the third decade of life, the patient had a peripheral fundus with a hammer-beaten appearance that later displayed bone spicules. Fundus autofluorescence, obtainable in only 1 patient at 7 years of age, was strongly reduced within the macula, diffusely increased in a broad ring around the macula, and faded toward the periphery. Optical coherence tomography (OCT) at a young age showed disorganization of all retinal layers; later OCT recordings revealed preservation of the external limiting membrane, although it was severely displaced, with a marked reduction in thickness of the outer and inner plexiform layers and the inner nuclear layer. Thinning of the ganglion cell and nerve fiber layers was also observed. The visual fields that could be measured in 5 patients showed a severe reduction, to 20 degrees or less. Electroretinographic responses in the 4 patients tested were nonrecordable. </p><p>Perrault et al. (2013) studied 9 patients from 7 unrelated families with mutations in the RD3 gene. Patients consistently presented with congenital nystagmus, low vision, sluggish pupillary reflexes, absence of ocular pursuit since birth, early-onset and long-lasting digitoocular sign of Franceschetti, photoaversion, and mild to moderate hyperopia. Visual acuity, when measurable, was reduced to counting fingers, hand movements, or light perception. Examination of the fundus consistently showed dull retina with salt-and-pepper aspect, thin retinal vessels, and early macular rearrangement (maculopathy). In 1 patient for whom OCT findings were available, the photoreceptor layer was missing, the inner/outer segment border was diminished, and an increased backscatter from the choroid was observed due to atrophy of the retinal pigment epithelium (RPE), in contrast to the relatively preserved inner retinal layers. Fundus autofluorescence was so severely reduced that no image could be produced. </p>
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<strong>Mapping</strong>
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<p>In a large consanguineous Kurdish family with LCA, Preising et al. (2012) performed genomewide SNP analysis and obtained a lod score of 3.627 at chromosome 1q31-q32 (chr1:209,473,694-214,664,986, GRCh37). Recombination events narrowed the region of interest. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of LCA12 in the family reported by Friedman et al. (2006) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In 881 probands with retinal dystrophy from North America, the United Kingdom, India, and Scandinavia, Friedman et al. (2006) sequenced all coding exons and flanking intron/exon boundaries of the RD3 gene and identified homozygosity for a donor splice site mutation (180040.0001) in a sister and brother from a consanguineous Indian family. </p><p>In a large consanguineous Kurdish family with LCA mapping to chromosome 1q32, Preising et al. (2012) directly sequenced the RD3 gene and identified homozygosity for a nonsense mutation (Y60X; 180040.0002) that segregated with disease in the family. Analysis of 85 unrelated patients with severe early-onset retinal dystrophy did not reveal any more causative RD3 mutations. Preising et al. (2012) concluded that sequence changes in the RD3 gene are a very rare cause of LCA that are associated with an extremely severe form of retinal dystrophy. </p><p>Using DNA samples from 852 unrelated patients ascertained worldwide with LCA or early-onset severe retinal degeneration, Perrault et al. (2013) screened the RD3 gene and identified homozygosity for 3 truncating mutations in 7 probands from consanguineous families: the same nonsense mutation (R38X; 180040.0003) was detected in 9 affected individuals from 5 families originating from the southern shores of the Mediterranean (2 Moroccan, 2 Turkish, and 1 Lebanese); a 2-bp deletion (180040.0004) in an Algerian woman; and another nonsense mutation (E46X; 180040.0005) in a Mexican girl. Perrault et al. (2013) noted phenotypic overlap between LCA12 and LCA1, which is caused by mutation in the GUCY2D gene (600179). </p>
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<strong>REFERENCES</strong>
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Friedman, J. S., Chang, B., Kannabiran, C., Chakarova, C., Singh, H. P., Jalali, S., Hawes, N. L., Branham, K., Othman, M., Filippova, E., Thompson, D. A., Webster, A. R., Andreasson, S., Jacobson, S. G., Bhattacharya, S. S., Heckenlively, J. R., Swaroop, A.
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<strong>Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.</strong>
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Am. J. Hum. Genet. 79: 1059-1070, 2006. Note: Erratum: Am. J. Hum. Genet. 80: 388 only, 2007.
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[PubMed: 17186464]
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[Full Text: https://doi.org/10.1086/510021]
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<li>
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Perrault, I., Estrada-Cuzcano, A., Lopez, I., Kohl, S., Li, S., Testa, F., Zekveld-Vroon, R., Wang, X., Pomares, E., Andorf, J., Aboussair, N., Banfi, S., and 23 others.
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<strong>Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.</strong>
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PLoS One 8: e51622, 2013. Note: Electronic Article.
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[PubMed: 23308101]
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[Full Text: https://doi.org/10.1371/journal.pone.0051622]
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Preising, M. N., Hausotter-Will, N., Solbach, M. C., Friedburg, C., Ruschendorf, F., Lorenz, B.
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<strong>Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.</strong>
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Invest. Ophthal. Vis. Sci. 53: 3463-3472, 2012.
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[PubMed: 22531706]
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[Full Text: https://doi.org/10.1167/iovs.12-9519]
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Contributors:
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Marla J. F. O'Neill - updated : 4/20/2015
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Creation Date:
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Victor A. McKusick : 11/29/2006
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carol : 03/25/2024<br>carol : 09/07/2022<br>carol : 12/08/2016<br>alopez : 04/22/2015<br>mcolton : 4/20/2015<br>carol : 4/12/2013<br>carol : 4/3/2009<br>alopez : 11/29/2006<br>alopez : 11/29/2006
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