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Entry
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- #613093 - CONE DYSTROPHY 4; COD4
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- OMIM
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<p>
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<span class="h4">#613093</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/613093"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS120970"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=CONE DYSTROPHY" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="#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 id="mimEuroGentestFold" class="collapse">
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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=1842&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Progressive cone dystrophy </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10639&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Achromatopsia </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1418/" 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/8036" 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=613093[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 id="mimOrphanetFold" class="collapse">
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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=1871" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Progressive cone dystrophy</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=49382" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Achromatopsia</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div><a href="https://omia.org/OMIA002163/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 1871, 49382<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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613093
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</span>
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</span>
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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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CONE DYSTROPHY 4; COD4
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</h3>
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</div>
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<div>
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<br />
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<a id="includedTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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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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ACHROMATOPSIA 5, INCLUDED; ACHM5, 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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<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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<td>
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<span class="mim-font">
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<a href="/geneMap/10/409?start=-3&limit=10&highlight=409">
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10q23.33
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</a>
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<span class="mim-font">
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Cone dystrophy 4
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<span class="mim-font">
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<a href="/entry/613093"> 613093 </a>
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</span>
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</td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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PDE6C
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<td>
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<span class="mim-font">
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<a href="/entry/600827"> 600827 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/613093" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS120970" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/613093" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/613093" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Eyes </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Colorblindness, severe to complete <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150402&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150402</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193683001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193683001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.50</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.5</a>]</span><br /> -
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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 /> -
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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 /> -
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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 /> -
|
|
Absent cone responses on electroretinography (ERG) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552667&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552667</a>]</span><br /> -
|
|
Normal rod function on ERG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150404</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">
|
|
<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 phosphodiesterase 6C gene (PDE6C, <a href="/entry/600827#0001">600827.0001</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">
|
|
<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">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Cone-rod dystrophy/Cone dystrophy
|
|
- <a href="/phenotypicSeries/PS120970">PS120970</a>
|
|
- 33 Entries
|
|
</h5>
|
|
</div>
|
|
</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>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/814?start=-3&limit=10&highlight=814"> 1p22.1 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604116"> Cone-rod dystrophy 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>
|
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|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604116"> 604116 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601691"> ABCA4 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601691"> 601691 </a>
|
|
</span>
|
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</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
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<a href="/geneMap/1/905?start=-3&limit=10&highlight=905"> 1p13.3 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616502"> Cone-rod dystrophy 21 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616502"> 616502 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/613360"> DRAM2 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/613360"> 613360 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
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|
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/1/990?start=-3&limit=10&highlight=990"> 1q12-q24 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/605549"> Cone-rod dystrophy 8 </a>
|
|
</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="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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/605549"> 605549 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605549"> CORD8 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605549"> 605549 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/geneMap/1/1241?start=-3&limit=10&highlight=1241"> 1q22 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/610283"> Cone-rod dystrophy 10 </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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|
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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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610283"> 610283 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607292"> SEMA4A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607292"> 607292 </a>
|
|
</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/2/156?start=-3&limit=10&highlight=156"> 2p23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613428"> Retinitis pigmentosa 54 </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/613428"> 613428 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613425"> PCARE </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613425"> 613425 </a>
|
|
</span>
|
|
</td>
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</tr>
|
|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/102?start=-3&limit=10&highlight=102"> 4p15.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615374"> Cone-rod dystrophy 18 </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/615374"> 615374 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612994"> RAB28 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612994"> 612994 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/112?start=-3&limit=10&highlight=112"> 4p15.32 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612657"> Cone-rod dystrophy 12 </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/612657"> 612657 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604365"> PROM1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604365"> 604365 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/497?start=-3&limit=10&highlight=497"> 6p21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602093"> Cone-rod dystrophy 14 </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/602093"> 602093 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600364"> GUCA1A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600364"> 600364 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/497?start=-3&limit=10&highlight=497"> 6p21.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602093"> Cone dystrophy-3 </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/602093"> 602093 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600364"> GUCA1A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600364"> 600364 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/652?start=-3&limit=10&highlight=652"> 6q14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603649"> Cone-rod dystrophy 7 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603649"> 603649 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603649"> CORD7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603649"> 603649 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/216?start=-3&limit=10&highlight=216"> 8p11.22 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612775"> Cone-rod dystrophy 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/612775"> 612775 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602713"> ADAM9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602713"> 602713 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/419?start=-3&limit=10&highlight=419"> 8q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614500"> Retinitis pigmentosa 64 </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/614500"> 614500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614477"> CFAP418 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614477"> 614477 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/419?start=-3&limit=10&highlight=419"> 8q22.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614500"> Cone-rod dystrophy 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/614500"> 614500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614477"> CFAP418 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614477"> 614477 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/347?start=-3&limit=10&highlight=347"> 10q23.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613660"> Retinitis pigmentosa 65 </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/613660"> 613660 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609502"> CDHR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609502"> 609502 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/347?start=-3&limit=10&highlight=347"> 10q23.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613660"> Cone-rod dystrophy 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/613660"> 613660 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609502"> CDHR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609502"> 609502 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/347?start=-3&limit=10&highlight=347"> 10q23.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613660"> Macular dystrophy, retinal </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/613660"> 613660 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609502"> CDHR1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/609502"> 609502 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/409?start=-3&limit=10&highlight=409"> 10q23.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613093"> Cone dystrophy 4 </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/613093"> 613093 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600827"> PDE6C </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600827"> 600827 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/596?start=-3&limit=10&highlight=596"> 10q26 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615163"> Cone-rod dystrophy 17 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615163"> 615163 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615163"> CORD17 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615163"> 615163 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/670?start=-3&limit=10&highlight=670"> 12q21.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615973"> Cone-rod dystrophy 20 </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/615973"> 615973 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614784"> POC1B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614784"> 614784 </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/608194"> Cone-rod dystrophy 13 </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/608194"> 608194 </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/14/404?start=-3&limit=10&highlight=404"> 14q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615860"> Cone-rod dystrophy 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/615860"> 615860 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612268"> TTLL5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612268"> 612268 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/16/341?start=-3&limit=10&highlight=341"> 16p11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/619531"> Cone-rod dystrophy 22 </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/619531"> 619531 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615175"> TLCD3B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615175"> 615175 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/117?start=-3&limit=10&highlight=117"> 17p13.2-p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600977"> Cone-rod dystrophy 5 </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/600977"> 600977 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608921"> PITPNM3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608921"> 608921 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/186?start=-3&limit=10&highlight=186"> 17p13.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601777"> Cone-rod dystrophy 6 </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/601777"> 601777 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600179"> GUCY2D </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600179"> 600179 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/340?start=-3&limit=10&highlight=340"> 17q11.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620342"> Cone-rod dystrophy 24 </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/620342"> 620342 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604011"> UNC119 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604011"> 604011 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/156?start=-3&limit=10&highlight=156"> 18q21.1-q21.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600624"> Cone-rod retinal dystrophy-1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600624"> 600624 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600624"> CORD1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600624"> 600624 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/117?start=-3&limit=10&highlight=117"> 19p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610381"> Cone-rod dystrophy 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/610381"> 610381 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610362"> RAX2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610362"> 610362 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/881?start=-3&limit=10&highlight=881"> 19q13.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/120970"> Cone-rod retinal dystrophy-2 </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/120970"> 120970 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602225"> CRX </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602225"> 602225 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/168?start=-3&limit=10&highlight=168"> Xp11.4 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/304020"> Cone-rod dystrophy, X-linked, 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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/304020"> 304020 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/312610"> RPGR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/312610"> 312610 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/275?start=-3&limit=10&highlight=275"> Xp11.23 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300476"> Cone-rod dystrophy, X-linked, 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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/300476"> 300476 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
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<p>A number sign (#) is used with this entry because of evidence that cone dystrophy-4 (COD4) and achromatopsia-5 (ACHM5) can be caused by homozygous or compound heterozygous mutation in the PDE6C gene (<a href="/entry/600827">600827</a>) on chromosome 10q34.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of achromatopsia, see ACHM2 (<a href="/entry/216900">216900</a>).</p>
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<p>Cone photoreceptor disorders form a clinical spectrum of diseases that include progressive cone dystrophy (COD) and complete and incomplete achromatopsia (ACHM). Impairment or death of cone photoreceptor cells is the clinical hallmark of these disorders. COD is a progressive cone disorder in which patients may initially have normal cone function but develop progressive visual acuity loss, increasing photophobia, color vision disturbances, and diminished cone responses on ERG, usually in the first or second decade of life. The visual acuity of these patients generally worsens to legal blindness before the fourth decade of life. ACHM is a stationary congenital autosomal recessive cone disorder characterized by low visual acuity, photophobia, nystagmus, and severe color vision defects. Patients with the complete ACHM subtype have no cone function on electroretinography, whereas those with incomplete ACHM show residual cone function (summary by <a href="#2" class="mim-tip-reference" title="Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W. <strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 85: 240-247, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19615668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19615668</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19615668[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19615668">Thiadens et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19615668" 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="#2" class="mim-tip-reference" title="Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W. <strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 85: 240-247, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19615668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19615668</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19615668[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19615668">Thiadens et al. (2009)</a> reported affected members of 4 families with early-onset cone dystrophy due to PDE6C mutations. In 1 family, 2 brothers had severe color vision defects with a reduced cone response on ERG when first examined at ages 6 and 7 years, respectively; they also had photophobia and nystagmus, with progressive decline in their visual acuity during their teens, and ERG examination at ages 51 and 47 years, respectively, revealed no cone responses whereas rod responses were normal. A sister and brother with incomplete achromatopsia, born of consanguineous parents, had nystagmus but no photophobia upon initial examination at ages 7 and 10, respectively, and initial visual acuities of 0.16 (20/100) in their best eyes declined to 0.10 (20/200) over the next decade. The brother showed significantly reduced but measurable cone responses on ERG examinations at ages 10 and 20 years, with normal rod parameters. Two sisters were clinically diagnosed with complete achromatopsia and were first examined at ages 11 and 12 years, respectively. They had severe photophobia, nystagmus, and visual acuities of 0.16 (20/100) in their best eyes, which declined to 1.10 (20/200) over the next 2 decades. ERG examinations showed no cone responses even in childhood, but normal rod responses were observed at ages 36 and 37 years, respectively. In the fourth family, <a href="#2" class="mim-tip-reference" title="Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W. <strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 85: 240-247, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19615668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19615668</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19615668[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19615668">Thiadens et al. (2009)</a> reported a 4-year-old boy with complete achromatopsia. At 4 years of age, the patient had a visual acuity of 0.10 (20/200) with severe photophobia and nystagmus; ERG revealed nonrecordable cone function, with completely normal rod function. Cross-sectional retinal imaging using optical coherence tomography (OCT) in patients with PDE6C mutations revealed a more pronounced absence of cone photoreceptors in patients with achromatopsia compared to patients with early-onset cone dystrophy. ERG analysis in the sib pair with early-onset cone dystrophy, who represented the 2 oldest mutation-positive patients at ages 47 and 51 years, respectively, showed absent cone responses but no abnormal rod responses, and normal rod responses were also observed in the 3 patients with complete achromatopsia. <a href="#2" class="mim-tip-reference" title="Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W. <strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 85: 240-247, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19615668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19615668</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19615668[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19615668">Thiadens et al. (2009)</a> concluded that rod involvement does not appear to be a major consequence of PDE6C mutations, although they noted that some dysfunction of rods may still occur later in life. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19615668" 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="Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B. <strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong> Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19887631[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0907720106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19887631">Chang et al. (2009)</a> studied patients with PDE6C mutations who presented with a clinical picture 'typical for' complete achromatopsia, as exemplified by 2 sisters who had photophobia and reduced visual acuity from earliest infancy and reported congenital nystagmus that persisted into adulthood. Upon examination at ages 24 and 26 years, respectively, both were myopic and had complete lack of color discrimination and a central scotoma. ERG recordings showed extinguished responses under photopic and 30-Hz flicker stimulation, whereas scotopic ERG responses were essentially normal. Funduscopy revealed atrophy of the retinal pigment epithelium in the macula; <a href="#1" class="mim-tip-reference" title="Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B. <strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong> Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19887631[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0907720106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19887631">Chang et al. (2009)</a> noted that this is an atypical feature in patients with achromatopsia, but has been seen in patients with progressive cone dystrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19887631" 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>Cone dystrophy-4 and achromatopsia-5 are autosomal recessive disorders (<a href="#2" class="mim-tip-reference" title="Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W. <strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 85: 240-247, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19615668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19615668</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19615668[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19615668">Thiadens et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19615668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 116 patients with autosomal recessive early-onset cone photoreceptor disorders, including 85 with autosomal recessive cone dystrophy (arCD), 20 with early-onset arCD, and 11 with achromatopsia, in all of whom involvement of known genes for ACHM and arCD had been excluded, <a href="#2" class="mim-tip-reference" title="Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W. <strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong> Am. J. Hum. Genet. 85: 240-247, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19615668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19615668</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19615668[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2009.06.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19615668">Thiadens et al. (2009)</a> performed high-resolution SNP analysis and identified large homozygous regions spanning the PDE6C gene (<a href="/entry/600827">600827</a>) on chromosome 10 in 1 sib pair with early-onset arCD and 1 sib pair with incomplete ACHM. Sequence analysis of the PDE6C gene detected homozygous missense mutations in both sib pairs (<a href="/entry/600827#0001">600827.0001</a> and <a href="/entry/600827#0002">600827.0002</a>, respectively). Additional sequence analysis of PDE6C in 104 patients with arCD and 10 with ACHM identified compound heterozygous PDE6C mutations in 3 patients with complete ACHM from 2 families (<a href="/entry/600827#0003">600827.0003</a>-<a href="/entry/600827#0006">600827.0006</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19615668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 families with achromatopsia in at least 2 affected sibs, who were negative for mutation in known achromatopsia genes, <a href="#1" class="mim-tip-reference" title="Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B. <strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong> Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19887631[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0907720106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19887631">Chang et al. (2009)</a> performed segregation analysis using satellite markers flanking the PDE6C gene and found a pattern compatible with linkage in 2 families; screening the PDE6C gene in those 2 families revealed compound heterozygosity for 4 different mutations in affected individuals (<a href="/entry/600827#0007">600827.0007</a>-<a href="/entry/600827#0010">600827.0010</a>, respectively). Screening of 24 additional simplex achromatopsia patients identified 2 patients who were compound heterozygous and homozygous, respectively, for mutations in PDE6C (<a href="/entry/600827#0011">600827.0011</a>-<a href="/entry/600827#0013">600827.0013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19887631" 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 cohort of 176 patients diagnosed with achromatopsia, who were negative for mutation in the CNGA3 (<a href="/entry/600053">600053</a>), CNGB3 (<a href="/entry/605080">605080</a>), and GNAT2 (<a href="/entry/139340">139340</a>) genes, <a href="#3" class="mim-tip-reference" title="Weisschuh, N., Stingl, K., Audo, I., Biskup, S., Bocquet, B., Branham, K., Burstedt, M. S., De Baere, E., De Vries, M. J., Golovleva, I., Green, A., Heckenlively, J., Leroy, B. P., Meunier, I., Traboulsi, E., Wissinger, B., Kohl, S. <strong>Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.</strong> Hum. Mutat. 39: 1366-1371, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30080950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30080950</a>] [<a href="https://doi.org/10.1002/humu.23606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30080950">Weisschuh et al. (2018)</a> screened for mutations in the PDE6C gene and identified 18 potentially pathogenic homozygous and compound heterozygous variants in 15 probands, including 1 patient compound heterozygous for the previously reported R29W mutation (<a href="/entry/600827#0001">600827.0001</a>) and another missense mutation (I279T; <a href="/entry/600827#0014">600827.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30080950" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B. <strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong> Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19887631[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0907720106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19887631">Chang et al. (2009)</a> demonstrated that the spontaneous mouse mutant cpfl1, in which there is lack of cone function and rapid degeneration of cone photoreceptors, represents a homologous mouse model for PDE6C (<a href="/entry/600827">600827</a>)-associated achromatopsia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19887631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Chang2009" class="mim-anchor"></a>
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Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B.
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<strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong>
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Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19887631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19887631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19887631[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19887631" 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/10.1073/pnas.0907720106" target="_blank">Full Text</a>]
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Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W.
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<strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong>
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Am. J. Hum. Genet. 85: 240-247, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19615668/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19615668</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19615668[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19615668" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2009.06.016" target="_blank">Full Text</a>]
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Weisschuh, N., Stingl, K., Audo, I., Biskup, S., Bocquet, B., Branham, K., Burstedt, M. S., De Baere, E., De Vries, M. J., Golovleva, I., Green, A., Heckenlively, J., Leroy, B. P., Meunier, I., Traboulsi, E., Wissinger, B., Kohl, S.
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<strong>Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.</strong>
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Hum. Mutat. 39: 1366-1371, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30080950/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30080950</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30080950" 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/10.1002/humu.23606" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 03/15/2019
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Marla J. F. O'Neill - updated : 4/5/2010
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Marla J. F. O'Neill : 10/16/2009
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alopez : 03/15/2019
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carol : 01/08/2019<br>carol : 04/01/2011<br>carol : 4/1/2011<br>carol : 4/5/2010<br>wwang : 10/16/2009
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<strong>#</strong> 613093
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CONE DYSTROPHY 4; COD4
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Other entities represented in this entry:
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ACHROMATOPSIA 5, INCLUDED; ACHM5, INCLUDED
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<strong>ORPHA:</strong> 1871, 49382;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Gene/Locus
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</th>
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Gene/Locus <br /> MIM number
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</tr>
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<tbody>
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<td>
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<span class="mim-font">
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10q23.33
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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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Cone dystrophy 4
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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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613093
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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PDE6C
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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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600827
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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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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that cone dystrophy-4 (COD4) and achromatopsia-5 (ACHM5) can be caused by homozygous or compound heterozygous mutation in the PDE6C gene (600827) on chromosome 10q34.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of achromatopsia, see ACHM2 (216900).</p>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cone photoreceptor disorders form a clinical spectrum of diseases that include progressive cone dystrophy (COD) and complete and incomplete achromatopsia (ACHM). Impairment or death of cone photoreceptor cells is the clinical hallmark of these disorders. COD is a progressive cone disorder in which patients may initially have normal cone function but develop progressive visual acuity loss, increasing photophobia, color vision disturbances, and diminished cone responses on ERG, usually in the first or second decade of life. The visual acuity of these patients generally worsens to legal blindness before the fourth decade of life. ACHM is a stationary congenital autosomal recessive cone disorder characterized by low visual acuity, photophobia, nystagmus, and severe color vision defects. Patients with the complete ACHM subtype have no cone function on electroretinography, whereas those with incomplete ACHM show residual cone function (summary by Thiadens et al., 2009). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Thiadens et al. (2009) reported affected members of 4 families with early-onset cone dystrophy due to PDE6C mutations. In 1 family, 2 brothers had severe color vision defects with a reduced cone response on ERG when first examined at ages 6 and 7 years, respectively; they also had photophobia and nystagmus, with progressive decline in their visual acuity during their teens, and ERG examination at ages 51 and 47 years, respectively, revealed no cone responses whereas rod responses were normal. A sister and brother with incomplete achromatopsia, born of consanguineous parents, had nystagmus but no photophobia upon initial examination at ages 7 and 10, respectively, and initial visual acuities of 0.16 (20/100) in their best eyes declined to 0.10 (20/200) over the next decade. The brother showed significantly reduced but measurable cone responses on ERG examinations at ages 10 and 20 years, with normal rod parameters. Two sisters were clinically diagnosed with complete achromatopsia and were first examined at ages 11 and 12 years, respectively. They had severe photophobia, nystagmus, and visual acuities of 0.16 (20/100) in their best eyes, which declined to 1.10 (20/200) over the next 2 decades. ERG examinations showed no cone responses even in childhood, but normal rod responses were observed at ages 36 and 37 years, respectively. In the fourth family, Thiadens et al. (2009) reported a 4-year-old boy with complete achromatopsia. At 4 years of age, the patient had a visual acuity of 0.10 (20/200) with severe photophobia and nystagmus; ERG revealed nonrecordable cone function, with completely normal rod function. Cross-sectional retinal imaging using optical coherence tomography (OCT) in patients with PDE6C mutations revealed a more pronounced absence of cone photoreceptors in patients with achromatopsia compared to patients with early-onset cone dystrophy. ERG analysis in the sib pair with early-onset cone dystrophy, who represented the 2 oldest mutation-positive patients at ages 47 and 51 years, respectively, showed absent cone responses but no abnormal rod responses, and normal rod responses were also observed in the 3 patients with complete achromatopsia. Thiadens et al. (2009) concluded that rod involvement does not appear to be a major consequence of PDE6C mutations, although they noted that some dysfunction of rods may still occur later in life. </p><p>Chang et al. (2009) studied patients with PDE6C mutations who presented with a clinical picture 'typical for' complete achromatopsia, as exemplified by 2 sisters who had photophobia and reduced visual acuity from earliest infancy and reported congenital nystagmus that persisted into adulthood. Upon examination at ages 24 and 26 years, respectively, both were myopic and had complete lack of color discrimination and a central scotoma. ERG recordings showed extinguished responses under photopic and 30-Hz flicker stimulation, whereas scotopic ERG responses were essentially normal. Funduscopy revealed atrophy of the retinal pigment epithelium in the macula; Chang et al. (2009) noted that this is an atypical feature in patients with achromatopsia, but has been seen in patients with progressive cone dystrophy. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Cone dystrophy-4 and achromatopsia-5 are autosomal recessive disorders (Thiadens et al., 2009). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 116 patients with autosomal recessive early-onset cone photoreceptor disorders, including 85 with autosomal recessive cone dystrophy (arCD), 20 with early-onset arCD, and 11 with achromatopsia, in all of whom involvement of known genes for ACHM and arCD had been excluded, Thiadens et al. (2009) performed high-resolution SNP analysis and identified large homozygous regions spanning the PDE6C gene (600827) on chromosome 10 in 1 sib pair with early-onset arCD and 1 sib pair with incomplete ACHM. Sequence analysis of the PDE6C gene detected homozygous missense mutations in both sib pairs (600827.0001 and 600827.0002, respectively). Additional sequence analysis of PDE6C in 104 patients with arCD and 10 with ACHM identified compound heterozygous PDE6C mutations in 3 patients with complete ACHM from 2 families (600827.0003-600827.0006, respectively). </p><p>In 4 families with achromatopsia in at least 2 affected sibs, who were negative for mutation in known achromatopsia genes, Chang et al. (2009) performed segregation analysis using satellite markers flanking the PDE6C gene and found a pattern compatible with linkage in 2 families; screening the PDE6C gene in those 2 families revealed compound heterozygosity for 4 different mutations in affected individuals (600827.0007-600827.0010, respectively). Screening of 24 additional simplex achromatopsia patients identified 2 patients who were compound heterozygous and homozygous, respectively, for mutations in PDE6C (600827.0011-600827.0013). </p><p>In a cohort of 176 patients diagnosed with achromatopsia, who were negative for mutation in the CNGA3 (600053), CNGB3 (605080), and GNAT2 (139340) genes, Weisschuh et al. (2018) screened for mutations in the PDE6C gene and identified 18 potentially pathogenic homozygous and compound heterozygous variants in 15 probands, including 1 patient compound heterozygous for the previously reported R29W mutation (600827.0001) and another missense mutation (I279T; 600827.0014). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Chang et al. (2009) demonstrated that the spontaneous mouse mutant cpfl1, in which there is lack of cone function and rapid degeneration of cone photoreceptors, represents a homologous mouse model for PDE6C (600827)-associated achromatopsia. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Chang, B., Grau, T., Dangel, S., Hurd, R., Jurklies, B., Sener, E. C., Andreasson, S., Dollfus, H., Baumann, B., Bolz, S., Artemyev, N., Kohl, S., Heckenlively, J., Wissinger, B.
|
|
<strong>A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.</strong>
|
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Proc. Nat. Acad. Sci. 106: 19581-19586, 2009.
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[PubMed: 19887631]
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[Full Text: https://doi.org/10.1073/pnas.0907720106]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Thiadens, A. A. H. J., den Hollander, A. I., Roosing, S., Nabuurs, S. B., Zekveld-Vroon, R. C., Collin, R. W. J., De Baere, E., Koenekoop, R. K., van Schooneveld, M. J., Strom, T. M., van Lith-Verhoeven, J. J. C., Lotery, A. J., van Moll-Ramirez, N., Leroy, B. P., van den Born, L. I., Hoyng, C. B., Cremers, F. P. M., Klaver, C. C. W.
|
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<strong>Homozygosity mapping reveals PDE6C mutations in parents with early-onset cone photoreceptor disorders.</strong>
|
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Am. J. Hum. Genet. 85: 240-247, 2009.
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[PubMed: 19615668]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.06.016]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Weisschuh, N., Stingl, K., Audo, I., Biskup, S., Bocquet, B., Branham, K., Burstedt, M. S., De Baere, E., De Vries, M. J., Golovleva, I., Green, A., Heckenlively, J., Leroy, B. P., Meunier, I., Traboulsi, E., Wissinger, B., Kohl, S.
|
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<strong>Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia.</strong>
|
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Hum. Mutat. 39: 1366-1371, 2018.
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[PubMed: 30080950]
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[Full Text: https://doi.org/10.1002/humu.23606]
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</p>
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</li>
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</ol>
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<div>
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Contributors:
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 03/15/2019<br>Marla J. F. O'Neill - updated : 4/5/2010
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</span>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill : 10/16/2009
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alopez : 03/15/2019<br>carol : 01/08/2019<br>carol : 04/01/2011<br>carol : 4/1/2011<br>carol : 4/5/2010<br>wwang : 10/16/2009
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