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<title>
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Entry
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- #613341 - LEBER CONGENITAL AMAUROSIS 14; LCA14
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- OMIM
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<span class="h4">#613341</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/613341"><strong>Clinical Synopsis</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="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3243&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Leber congenital amaurosis </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=659&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Retinitis pigmentosa </a></div>
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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.diseaseinfosearch.org/x/8719" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=613341[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=65" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Leber congenital amaurosis</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Retinitis pigmentosa</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110188" 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/613341" 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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<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 href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 65, 791<br />
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<strong>DO:</strong> 0110188<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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613341
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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 14; LCA14
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<div>
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</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/4/623?start=-3&limit=10&highlight=623">
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4q32.1
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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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Retinal dystrophy, early-onset severe
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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/613341"> 613341 </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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LRAT
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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/604863"> 604863 </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/4/623?start=-3&limit=10&highlight=623">
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4q32.1
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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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Leber congenital amaurosis 14
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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/613341"> 613341 </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>
|
|
<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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LRAT
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604863"> 604863 </a>
|
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</span>
|
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</td>
|
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</tr>
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/4/623?start=-3&limit=10&highlight=623">
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4q32.1
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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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Retinitis pigmentosa, juvenile
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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/613341"> 613341 </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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LRAT
|
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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/604863"> 604863 </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 ">
|
|
<a href="/clinicalSynopsis/613341" 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>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
|
</div>
|
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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>
|
|
|
|
<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>
|
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</button>
|
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</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/613341" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/613341" 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>
|
|
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
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<div>
|
|
<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 />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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">
|
|
|
|
- Decreased visual acuity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13164000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span><br /> -
|
|
Night blindness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65194006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65194006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.6</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/368.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000662" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000662</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000662" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000662</a>]</span><br /> -
|
|
Nystagmus <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> 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> <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 /> -
|
|
Photophobia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409668002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409668002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246622003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246622003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span><br /> -
|
|
Poorly reactive pupils <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150537&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150537</a>]</span><br /> -
|
|
Optic disc pallor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302200001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302200001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0554970&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0554970</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000543</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000543</a>]</span><br /> -
|
|
Attenuated retinal arteries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271728000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271728000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423389&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423389</a>]</span><br /> -
|
|
Peripheral atrophy of retinal pigment epithelium <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674017&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674017</a>]</span><br /> -
|
|
Perimacular retinal surface wrinkling (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150538</a>]</span><br /> -
|
|
Scant bone-spicule pigment (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150539&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150539</a>]</span><br /> -
|
|
Visual field restriction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150540&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150540</a>]</span><br /> -
|
|
Loss of central vision <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38950008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38950008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152191&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152191</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000603" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000603</a>]</span><br /> -
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Decreased or absent electroretinogram (ERG) responses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150541</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Ocular phenotype falls within a spectrum of retinal dystrophy from severe, Leber congenital amaurosis, to less severe, juvenile retinitis pigmentosa<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the lecithin retinol acyltransferase gene (LRAT, <a href="/entry/604863#0001">604863.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
|
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
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<h5>
|
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Leber congenital amaurosis
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- <a href="/phenotypicSeries/PS204000">PS204000</a>
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- 26 Entries
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</h5>
|
|
</div>
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|
</div>
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|
<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>
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<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
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</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>
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|
|
|
</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>
|
|
</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/618513"> 618513 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618439"> USP45 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618439"> 618439 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/651?start=-3&limit=10&highlight=651"> 7q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613837"> Leber congenital amaurosis 11 </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/613837"> 613837 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/146690"> IMPDH1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/146690"> 146690 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/420?start=-3&limit=10&highlight=420"> 8q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615360"> Leber congenital amaurosis 17 </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/615360"> 615360 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601147"> GDF6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601147"> 601147 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/482?start=-3&limit=10&highlight=482"> 11q12.3 </a>
|
|
|
|
</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>
|
|
<span class="mim-font">
|
|
<a href="/entry/180721"> 180721 </a>
|
|
</span>
|
|
</td>
|
|
</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"> 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/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/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>
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<p>A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-14 (LCA14) is caused by homozygous mutation in the LRAT gene (<a href="/entry/604863">604863</a>) on chromosome 4q32.</p><p>Mutation in the LRAT gene can also cause juvenile retinitis pigmentosa and a form of early-onset severe retinal dystrophy.</p>
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<p>Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (<a href="#2" class="mim-tip-reference" title="Gu, S., Thompson, D. A., Srikumari, C. R. S., Lorenz, B., Finckh, U., Nicoletti, A., Murthy, K. R., Rathmann, M., Kumaramanickavel, G., Denton, M. J., Gal, A. <strong>Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.</strong> Nature Genet. 17: 194-197, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326941</a>] [<a href="https://doi.org/10.1038/ng1097-194" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9326941">Gu et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9326941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (<a href="/entry/204000">204000</a>); for retinitis pigmentosa, see <a href="/entry/268000">268000</a>.</p>
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<p><a href="#4" class="mim-tip-reference" title="Thompson, D. A., Li, Y., McHenry, C. L., Carlson, T. J., Ding, X., Sieving, P. A., Apfelstedt-Sylla, E., Gal, A. <strong>Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.</strong> Nature Genet. 28: 123-124, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381255</a>] [<a href="https://doi.org/10.1038/88828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381255">Thompson et al. (2001)</a> studied 3 patients with early-onset severe retinal dystrophy. Two were female patients who had night blindness and poor vision in childhood and were diagnosed with retinitis pigmentosa (RP) at 2 years and 7 years of age, respectively. One had a visual field of less than 5 degrees, whereas the other had a visual field restricted to tiny central islands; in the latter patient, funduscopic examination showed optic disc pallor, attenuated retinal arterioles, peripheral retinal pigment epithelium (RPE) atrophy, and perimacular retinal surface wrinkling but little bone-spicule pigment. The third patient was a man who had nystagmus and was diagnosed with retinal degeneration at 3 years of age. He had no electroretinogram (ERG) responses at age 15 and at age 25 had no central vision. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381255" 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="Senechal, A., Humbert, G., Surget, M.-O., Bazalgette, C., Bazalgette, C., Arnaud, B., Arndt, C., Laurent, E., Brabet, P., Hamel, C. P. <strong>Screening genes of the retinoid metabolism: novel LRAT mutation in Leber congenital amaurosis.</strong> Am. J. Ophthal. 142: 702-704, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17011878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17011878</a>] [<a href="https://doi.org/10.1016/j.ajo.2006.04.057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17011878">Senechal et al. (2006)</a> reported a boy with an 'RPE65 phenotype' (see LCA2, <a href="/entry/204100">204100</a>), who had severe visual impairment and did not follow objects in infancy but could follow lights. He had no nystagmus but was profoundly night-blind. He progressively improved so that he recognized various objects and could move by himself in a bright environment at age 21 months. Examination revealed normal-appearing maculas with good reflexes and normal optic discs; there was no pigment deposit in the posterior pole or periphery, but retinal vessels were slightly narrowed. There were no depigmentation spots or flecks. The ERG was flat for all types of stimulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17011878" 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="den Hollander, A. I., Lopez, I., Yzer, S., Zonneveld, M. N., Janssen, I. M., Strom, T. M., Hehir-Kwa, J. Y., Veltman, J. A., Arends, M. L., Meitinger, T., Musarella, M. A., van den Born, L. I., Fishman, G. A., Maumenee, I. H., Rohrschneider, K., Cremers, F. P. M., Koenekoop, R. K. <strong>Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.</strong> Invest. Ophthal. Vis. Sci. 48: 5690-5698, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18055821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18055821</a>] [<a href="https://doi.org/10.1167/iovs.07-0610" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18055821">Den Hollander et al. (2007)</a> described 2 unrelated French Canadian probands with retinal disease. The first was a woman diagnosed with Leber congenital amaurosis who had onset of disease noted at the age of 2 months, with night blindness and nystagmus but no photophobia. Funduscopic examination at 23 years of age showed normal RPE and retinal appearance in the posterior pole, then a sharp demarcation to an area with significant retinal hypopigmentation outside the arcades and to the periphery; Goldmann visual fields were 10 degrees with the V4e target. Over the next 10 years, she maintained hand motion vision, but her visual fields declined to 5 degrees, and she developed mild posterior subcapsular cataracts and a mild bull's eye maculopathy. The second proband and his affected sister, who were diagnosed with juvenile RP, presented with a history of night blindness from 2 years of age, poorly reactive pupils, and an accommodative esotropia. At 6 years of age, funduscopic examination in the boy showed a normal appearance at the posterior pole with sharp demarcation of the peripheral retina outside the arcades, with striking grainy (salt and pepper) retinal degeneration. Goldmann visual fields (V4e) were 75 degrees at age 7 years and 65 degrees at 9 years of age; visual acuity decreased from 20/70 OU to 20/100 OD and 20/200 OS over that period. His sister was very photophobic, with fine horizontal nystagmus and sluggish pupils. Retinal examination revealed pale optic discs, narrow blood vessels, and a marked translucency of the peripheral retina and RPE, with a grainy appearance. At 7 years of age, visual acuity was 20/150 and Goldmann visual fields (V4e) were 30 degrees. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18055821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Thompson, D. A., Li, Y., McHenry, C. L., Carlson, T. J., Ding, X., Sieving, P. A., Apfelstedt-Sylla, E., Gal, A. <strong>Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.</strong> Nature Genet. 28: 123-124, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381255</a>] [<a href="https://doi.org/10.1038/88828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381255">Thompson et al. (2001)</a> screened 267 retinal dystrophy patients for mutations in the LRAT gene and identified a missense mutation in 2 patients (S175R; <a href="/entry/604863#0001">604863.0001</a>) and a 2-bp deletion (<a href="/entry/604863#0002">604863.0002</a>) in another patient; all 3 patients had severe, early-onset disease. <a href="#4" class="mim-tip-reference" title="Thompson, D. A., Li, Y., McHenry, C. L., Carlson, T. J., Ding, X., Sieving, P. A., Apfelstedt-Sylla, E., Gal, A. <strong>Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.</strong> Nature Genet. 28: 123-124, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381255</a>] [<a href="https://doi.org/10.1038/88828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381255">Thompson et al. (2001)</a> stated that their findings highlighted the importance of genetic defects in vitamin A metabolism as causes of retinal dystrophies and extended prospects for retinoid replacement therapy in this group of diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381255" 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 21-month-old boy who was diagnosed with Leber congenital amaurosis-2 (LCA2; <a href="/entry/204100">204100</a>) but who was negative for mutation in the RPE65 gene (<a href="/entry/180069">180069</a>), <a href="#3" class="mim-tip-reference" title="Senechal, A., Humbert, G., Surget, M.-O., Bazalgette, C., Bazalgette, C., Arnaud, B., Arndt, C., Laurent, E., Brabet, P., Hamel, C. P. <strong>Screening genes of the retinoid metabolism: novel LRAT mutation in Leber congenital amaurosis.</strong> Am. J. Ophthal. 142: 702-704, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17011878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17011878</a>] [<a href="https://doi.org/10.1016/j.ajo.2006.04.057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17011878">Senechal et al. (2006)</a> screened the LRAT gene and identified homozygosity for a 2-bp deletion (<a href="/entry/604863#0003">604863.0003</a>). The unaffected first-cousin parents were heterozygous for the mutation, which was not found in 112 ethnically matched chromosomes. <a href="#3" class="mim-tip-reference" title="Senechal, A., Humbert, G., Surget, M.-O., Bazalgette, C., Bazalgette, C., Arnaud, B., Arndt, C., Laurent, E., Brabet, P., Hamel, C. P. <strong>Screening genes of the retinoid metabolism: novel LRAT mutation in Leber congenital amaurosis.</strong> Am. J. Ophthal. 142: 702-704, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17011878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17011878</a>] [<a href="https://doi.org/10.1016/j.ajo.2006.04.057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17011878">Senechal et al. (2006)</a> noted that the 'early-onset severe retinal dystrophy' described by <a href="#4" class="mim-tip-reference" title="Thompson, D. A., Li, Y., McHenry, C. L., Carlson, T. J., Ding, X., Sieving, P. A., Apfelstedt-Sylla, E., Gal, A. <strong>Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.</strong> Nature Genet. 28: 123-124, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381255</a>] [<a href="https://doi.org/10.1038/88828" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381255">Thompson et al. (2001)</a> in 3 patients with mutations in the LRAT gene (see <a href="/entry/604863#0001">604863.0001</a> and <a href="/entry/604863#0002">604863.0002</a>) was compatible with the clinical description of this LCA patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17011878+11381255" 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 2 unrelated French Canadian probands, 1 diagnosed with LCA and the other with juvenile RP, <a href="#1" class="mim-tip-reference" title="den Hollander, A. I., Lopez, I., Yzer, S., Zonneveld, M. N., Janssen, I. M., Strom, T. M., Hehir-Kwa, J. Y., Veltman, J. A., Arends, M. L., Meitinger, T., Musarella, M. A., van den Born, L. I., Fishman, G. A., Maumenee, I. H., Rohrschneider, K., Cremers, F. P. M., Koenekoop, R. K. <strong>Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.</strong> Invest. Ophthal. Vis. Sci. 48: 5690-5698, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18055821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18055821</a>] [<a href="https://doi.org/10.1167/iovs.07-0610" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18055821">den Hollander et al. (2007)</a> identified homozygosity for the same 2-bp deletion previously found by <a href="#3" class="mim-tip-reference" title="Senechal, A., Humbert, G., Surget, M.-O., Bazalgette, C., Bazalgette, C., Arnaud, B., Arndt, C., Laurent, E., Brabet, P., Hamel, C. P. <strong>Screening genes of the retinoid metabolism: novel LRAT mutation in Leber congenital amaurosis.</strong> Am. J. Ophthal. 142: 702-704, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17011878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17011878</a>] [<a href="https://doi.org/10.1016/j.ajo.2006.04.057" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17011878">Senechal et al. (2006)</a> in a French boy diagnosed with LCA. <a href="#1" class="mim-tip-reference" title="den Hollander, A. I., Lopez, I., Yzer, S., Zonneveld, M. N., Janssen, I. M., Strom, T. M., Hehir-Kwa, J. Y., Veltman, J. A., Arends, M. L., Meitinger, T., Musarella, M. A., van den Born, L. I., Fishman, G. A., Maumenee, I. H., Rohrschneider, K., Cremers, F. P. M., Koenekoop, R. K. <strong>Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.</strong> Invest. Ophthal. Vis. Sci. 48: 5690-5698, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18055821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18055821</a>] [<a href="https://doi.org/10.1167/iovs.07-0610" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18055821">Den Hollander et al. (2007)</a> suggested that the 2-bp deletion (217delAT) might represent a founder mutation originating from France. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17011878+18055821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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den Hollander, A. I., Lopez, I., Yzer, S., Zonneveld, M. N., Janssen, I. M., Strom, T. M., Hehir-Kwa, J. Y., Veltman, J. A., Arends, M. L., Meitinger, T., Musarella, M. A., van den Born, L. I., Fishman, G. A., Maumenee, I. H., Rohrschneider, K., Cremers, F. P. M., Koenekoop, R. K.
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<strong>Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.</strong>
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Invest. Ophthal. Vis. Sci. 48: 5690-5698, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18055821/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18055821</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18055821" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1167/iovs.07-0610" target="_blank">Full Text</a>]
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Gu, S., Thompson, D. A., Srikumari, C. R. S., Lorenz, B., Finckh, U., Nicoletti, A., Murthy, K. R., Rathmann, M., Kumaramanickavel, G., Denton, M. J., Gal, A.
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<strong>Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.</strong>
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Nature Genet. 17: 194-197, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9326941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9326941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9326941" 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/ng1097-194" target="_blank">Full Text</a>]
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Senechal, A., Humbert, G., Surget, M.-O., Bazalgette, C., Bazalgette, C., Arnaud, B., Arndt, C., Laurent, E., Brabet, P., Hamel, C. P.
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<strong>Screening genes of the retinoid metabolism: novel LRAT mutation in Leber congenital amaurosis.</strong>
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Am. J. Ophthal. 142: 702-704, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17011878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17011878</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17011878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Thompson, D. A., Li, Y., McHenry, C. L., Carlson, T. J., Ding, X., Sieving, P. A., Apfelstedt-Sylla, E., Gal, A.
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<strong>Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.</strong>
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Nature Genet. 28: 123-124, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381255</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381255" 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/10.1038/88828" target="_blank">Full Text</a>]
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Marla J. F. O'Neill : 4/6/2010
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carol : 12/08/2016
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carol : 04/06/2010<br>carol : 4/6/2010
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<strong>#</strong> 613341
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LEBER CONGENITAL AMAUROSIS 14; LCA14
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Other entities represented in this entry:
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RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED, INCLUDED
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RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED, INCLUDED
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<strong>ORPHA:</strong> 65, 791;
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<strong>DO:</strong> 0110188;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Inheritance
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4q32.1
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Retinal dystrophy, early-onset severe
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613341
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Autosomal recessive
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<span class="mim-font">
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3
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LRAT
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<span class="mim-font">
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604863
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4q32.1
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Leber congenital amaurosis 14
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613341
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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LRAT
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<span class="mim-font">
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604863
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<span class="mim-font">
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4q32.1
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<span class="mim-font">
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Retinitis pigmentosa, juvenile
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613341
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<span class="mim-font">
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Autosomal recessive
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LRAT
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604863
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Leber congenital amaurosis-14 (LCA14) is caused by homozygous mutation in the LRAT gene (604863) on chromosome 4q32.</p><p>Mutation in the LRAT gene can also cause juvenile retinitis pigmentosa and a form of early-onset severe retinal dystrophy.</p>
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<strong>Description</strong>
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<p>Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa (Gu et al., 1997). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of Leber congenital amaurosis, see LCA1 (204000); for retinitis pigmentosa, see 268000.</p>
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<strong>Clinical Features</strong>
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<p>Thompson et al. (2001) studied 3 patients with early-onset severe retinal dystrophy. Two were female patients who had night blindness and poor vision in childhood and were diagnosed with retinitis pigmentosa (RP) at 2 years and 7 years of age, respectively. One had a visual field of less than 5 degrees, whereas the other had a visual field restricted to tiny central islands; in the latter patient, funduscopic examination showed optic disc pallor, attenuated retinal arterioles, peripheral retinal pigment epithelium (RPE) atrophy, and perimacular retinal surface wrinkling but little bone-spicule pigment. The third patient was a man who had nystagmus and was diagnosed with retinal degeneration at 3 years of age. He had no electroretinogram (ERG) responses at age 15 and at age 25 had no central vision. </p><p>Senechal et al. (2006) reported a boy with an 'RPE65 phenotype' (see LCA2, 204100), who had severe visual impairment and did not follow objects in infancy but could follow lights. He had no nystagmus but was profoundly night-blind. He progressively improved so that he recognized various objects and could move by himself in a bright environment at age 21 months. Examination revealed normal-appearing maculas with good reflexes and normal optic discs; there was no pigment deposit in the posterior pole or periphery, but retinal vessels were slightly narrowed. There were no depigmentation spots or flecks. The ERG was flat for all types of stimulation. </p><p>Den Hollander et al. (2007) described 2 unrelated French Canadian probands with retinal disease. The first was a woman diagnosed with Leber congenital amaurosis who had onset of disease noted at the age of 2 months, with night blindness and nystagmus but no photophobia. Funduscopic examination at 23 years of age showed normal RPE and retinal appearance in the posterior pole, then a sharp demarcation to an area with significant retinal hypopigmentation outside the arcades and to the periphery; Goldmann visual fields were 10 degrees with the V4e target. Over the next 10 years, she maintained hand motion vision, but her visual fields declined to 5 degrees, and she developed mild posterior subcapsular cataracts and a mild bull's eye maculopathy. The second proband and his affected sister, who were diagnosed with juvenile RP, presented with a history of night blindness from 2 years of age, poorly reactive pupils, and an accommodative esotropia. At 6 years of age, funduscopic examination in the boy showed a normal appearance at the posterior pole with sharp demarcation of the peripheral retina outside the arcades, with striking grainy (salt and pepper) retinal degeneration. Goldmann visual fields (V4e) were 75 degrees at age 7 years and 65 degrees at 9 years of age; visual acuity decreased from 20/70 OU to 20/100 OD and 20/200 OS over that period. His sister was very photophobic, with fine horizontal nystagmus and sluggish pupils. Retinal examination revealed pale optic discs, narrow blood vessels, and a marked translucency of the peripheral retina and RPE, with a grainy appearance. At 7 years of age, visual acuity was 20/150 and Goldmann visual fields (V4e) were 30 degrees. </p>
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<strong>Molecular Genetics</strong>
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<p>Thompson et al. (2001) screened 267 retinal dystrophy patients for mutations in the LRAT gene and identified a missense mutation in 2 patients (S175R; 604863.0001) and a 2-bp deletion (604863.0002) in another patient; all 3 patients had severe, early-onset disease. Thompson et al. (2001) stated that their findings highlighted the importance of genetic defects in vitamin A metabolism as causes of retinal dystrophies and extended prospects for retinoid replacement therapy in this group of diseases. </p><p>In a 21-month-old boy who was diagnosed with Leber congenital amaurosis-2 (LCA2; 204100) but who was negative for mutation in the RPE65 gene (180069), Senechal et al. (2006) screened the LRAT gene and identified homozygosity for a 2-bp deletion (604863.0003). The unaffected first-cousin parents were heterozygous for the mutation, which was not found in 112 ethnically matched chromosomes. Senechal et al. (2006) noted that the 'early-onset severe retinal dystrophy' described by Thompson et al. (2001) in 3 patients with mutations in the LRAT gene (see 604863.0001 and 604863.0002) was compatible with the clinical description of this LCA patient. </p><p>In 2 unrelated French Canadian probands, 1 diagnosed with LCA and the other with juvenile RP, den Hollander et al. (2007) identified homozygosity for the same 2-bp deletion previously found by Senechal et al. (2006) in a French boy diagnosed with LCA. Den Hollander et al. (2007) suggested that the 2-bp deletion (217delAT) might represent a founder mutation originating from France. </p>
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<strong>REFERENCES</strong>
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den Hollander, A. I., Lopez, I., Yzer, S., Zonneveld, M. N., Janssen, I. M., Strom, T. M., Hehir-Kwa, J. Y., Veltman, J. A., Arends, M. L., Meitinger, T., Musarella, M. A., van den Born, L. I., Fishman, G. A., Maumenee, I. H., Rohrschneider, K., Cremers, F. P. M., Koenekoop, R. K.
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<strong>Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.</strong>
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Invest. Ophthal. Vis. Sci. 48: 5690-5698, 2007.
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[PubMed: 18055821]
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[Full Text: https://doi.org/10.1167/iovs.07-0610]
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<li>
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Gu, S., Thompson, D. A., Srikumari, C. R. S., Lorenz, B., Finckh, U., Nicoletti, A., Murthy, K. R., Rathmann, M., Kumaramanickavel, G., Denton, M. J., Gal, A.
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<strong>Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.</strong>
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Nature Genet. 17: 194-197, 1997.
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[PubMed: 9326941]
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[Full Text: https://doi.org/10.1038/ng1097-194]
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<p class="mim-text-font">
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Senechal, A., Humbert, G., Surget, M.-O., Bazalgette, C., Bazalgette, C., Arnaud, B., Arndt, C., Laurent, E., Brabet, P., Hamel, C. P.
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<strong>Screening genes of the retinoid metabolism: novel LRAT mutation in Leber congenital amaurosis.</strong>
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Am. J. Ophthal. 142: 702-704, 2006.
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[PubMed: 17011878]
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[Full Text: https://doi.org/10.1016/j.ajo.2006.04.057]
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Thompson, D. A., Li, Y., McHenry, C. L., Carlson, T. J., Ding, X., Sieving, P. A., Apfelstedt-Sylla, E., Gal, A.
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<strong>Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.</strong>
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Nature Genet. 28: 123-124, 2001.
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[PubMed: 11381255]
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[Full Text: https://doi.org/10.1038/88828]
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Creation Date:
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Marla J. F. O'Neill : 4/6/2010
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carol : 12/08/2016<br>carol : 04/06/2010<br>carol : 4/6/2010
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