3108 lines
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Entry
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- #613216 - NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C
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- OMIM
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<p>
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<span class="h4">#613216</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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<li role="presentation">
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<a href="/clinicalSynopsis/613216"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS310500"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#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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<div><a href="https://clinicaltrials.gov/search?cond=(NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE) OR (TRPM1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=923&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9013" 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=613216[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=215" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110867" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/613216" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=001341,002139" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0110867" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 215<br />
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<strong>DO:</strong> 0110867<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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613216
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C
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</h3>
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</div>
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<div>
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<br />
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</div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CSNB, COMPLETE, AUTOSOMAL RECESSIVE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/15/54?start=-3&limit=10&highlight=54">
|
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15q13.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Night blindness, congenital stationary (complete), 1C, 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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<a href="/entry/613216"> 613216 </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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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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TRPM1
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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/603576"> 603576 </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/613216" 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/PS310500" 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/613216" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/613216" 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>
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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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<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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|
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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 /> -
|
|
Esotropia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16596007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16596007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/378.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014877&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014877</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000565" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000565</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000565" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000565</a>]</span><br /> -
|
|
Exotropia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399252000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399252000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399054005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399054005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/378.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015310</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000577</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000577</a>]</span><br /> -
|
|
Night blindness, nonprogressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936325&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936325</a>]</span><br /> -
|
|
Mildly reduced visual acuity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4732817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4732817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032037" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032037</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0032037" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0032037</a>]</span> <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><br /> -
|
|
Astigmatism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82649003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82649003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/367.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004106&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004106</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000483" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000483</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000483" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000483</a>]</span><br /> -
|
|
Myopia, moderate to high <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552276</a>]</span><br /> -
|
|
Pale optic discs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302200001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302200001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0554970&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0554970</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000543</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000543</a>]</span><br /> -
|
|
Tilted optic discs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230504002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230504002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338499</a>]</span><br /> -
|
|
Pallor of fundal reflex <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936326&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936326</a>]</span><br /> -
|
|
Reduced or absent dark adaptation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936327</a>]</span><br /> -
|
|
Absent scotopic responses seen on electroretinography (ERG) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936328&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936328</a>]</span><br /> -
|
|
Photopic ERG implicit time normal for a-wave and delayed for b-wave <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936329&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936329</a>]</span><br /> -
|
|
Normal a-wave and absent b-wave seen on mixed cone-rod ERG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936330&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936330</a>]</span><br /> -
|
|
Selective dysfunction of ON bipolar pathway in both rods and cones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936331&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936331</a>]</span><br /> -
|
|
Relative sparing of OFF bipolar pathway <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936332&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936332</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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- Onset in early childhood<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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- Caused by mutation in the transient receptor potential cation channel, subfamily M, member-1 gene (TRPM1, <a href="/entry/603576#0001">603576.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small">
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<div class="row">
|
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
|
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Night blindness, congenital stationary
|
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- <a href="/phenotypicSeries/PS310500">PS310500</a>
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- 15 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/2/1127?start=-3&limit=10&highlight=1127"> 2q37.1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/258100"> Oguchi disease-1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/258100"> 258100 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/181031"> SAG </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/181031"> 181031 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/3/330?start=-3&limit=10&highlight=330"> 3p21.31 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610444"> Night blindness, congenital stationary, autosomal dominant 3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610444"> 610444 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/139330"> GNAT1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/139330"> 139330 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/3/330?start=-3&limit=10&highlight=330"> 3p21.31 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616389"> Night blindness, congenital stationary, type 1G </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616389"> 616389 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/139330"> GNAT1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/139330"> 139330 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/3/670?start=-3&limit=10&highlight=670"> 3q22.1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610445"> Night blindness, congenital stationary, autosomal dominant 1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/610445"> 610445 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/180380"> RHO </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/180380"> 180380 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/4/12?start=-3&limit=10&highlight=12"> 4p16.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/163500"> Night blindness, congenital stationary, autosomal dominant 2 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/163500"> 163500 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/180072"> PDE6B </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/180072"> 180072 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/4/485?start=-3&limit=10&highlight=485"> 4q25 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615058"> Night blindness, congenital stationary (complete), 1F, autosomal recessive </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615058"> 615058 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615004"> LRIT3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/615004"> 615004 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/5/827?start=-3&limit=10&highlight=827"> 5q35.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/257270"> Night blindness, congenital stationary (complete), 1B, autosomal recessive </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/257270"> 257270 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/604096"> GRM6 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/604096"> 604096 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/12/72?start=-3&limit=10&highlight=72"> 12p13.31 </a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/617024"> Night blindness, congenital stationary, type 1H </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/617024"> 617024 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/139130"> GNB3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/139130"> 139130 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/13/331?start=-3&limit=10&highlight=331"> 13q34 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613411"> Oguchi disease-2 </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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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613411"> 613411 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/180381"> GRK1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/180381"> 180381 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/15/54?start=-3&limit=10&highlight=54"> 15q13.3 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613216"> Night blindness, congenital stationary (complete), 1C, autosomal recessive </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613216"> 613216 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/603576"> TRPM1 </a>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/603576"> 603576 </a>
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</span>
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</td>
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/15/304?start=-3&limit=10&highlight=304"> 15q22.31 </a>
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/613830"> Night blindness, congenital stationary (complete), 1D, autosomal recessive </a>
|
|
</span>
|
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</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>
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<span class="mim-font">
|
|
<a href="/entry/613830"> 613830 </a>
|
|
</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/603617"> SLC24A1 </a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/603617"> 603617 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
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|
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<a href="/geneMap/17/186?start=-3&limit=10&highlight=186"> 17p13.1 </a>
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/entry/618555"> Night blindness, congenital stationary, type 1I </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">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618555"> 618555 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/600179"> GUCY2D </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/600179"> 600179 </a>
|
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</span>
|
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</td>
|
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</tr>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/465?start=-3&limit=10&highlight=465"> 17q12 </a>
|
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|
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive complete congenital stationary night blindness-1C can be caused by homozygous or compound heterozygous mutation in the TRPM1 gene (<a href="/entry/603576">603576</a>) on chromosome 15q13-q14.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (<a href="/entry/310500">310500</a>).</p>
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<p><a href="#3" class="mim-tip-reference" title="Li, Z., Sergouniotis, P. I., Michaelides, M., Mackay, D. S., Wright, G. A., Devery, S., Moore, A. T., Holder, G. E., Robson, A. G., Webster, A. R. <strong>Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.</strong> Am. J. Hum. Genet. 85: 711-719, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19878917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19878917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19878917[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.2009.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19878917">Li et al. (2009)</a> studied 3 families with complete congenital stationary night blindness (CSNB), 1 of South Asian ethnicity and 2 of Caucasian European descent, in which affected members had myopia, reduced central vision, nystagmus, and electroretinographic (ERG) evidence of ON bipolar cell dysfunction typical of complete CSNB. None had abnormalities of skin pigmentation, although other skin conditions were reported, including dry skin requiring emollients, a history of treatment for 'eczema,' and an uncharacterized condition 'similar to epidermolysis bullosa simplex.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19878917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a consanguineous family of South Asian ethnicity with complete CSNB, <a href="#3" class="mim-tip-reference" title="Li, Z., Sergouniotis, P. I., Michaelides, M., Mackay, D. S., Wright, G. A., Devery, S., Moore, A. T., Holder, G. E., Robson, A. G., Webster, A. R. <strong>Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.</strong> Am. J. Hum. Genet. 85: 711-719, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19878917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19878917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19878917[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.2009.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19878917">Li et al. (2009)</a> performed genomewide linkage analysis and identified a 15.9-Mb candidate region on proximal chromosome 15q, flanked by the polymorphisms <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2090622;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2090622</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs10518928;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs10518928</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19878917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a consanguineous family of South Asian ethnicity with complete CSNB, <a href="#3" class="mim-tip-reference" title="Li, Z., Sergouniotis, P. I., Michaelides, M., Mackay, D. S., Wright, G. A., Devery, S., Moore, A. T., Holder, G. E., Robson, A. G., Webster, A. R. <strong>Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.</strong> Am. J. Hum. Genet. 85: 711-719, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19878917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19878917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19878917[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.2009.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19878917">Li et al. (2009)</a> identified homozygosity for a splice site mutation (<a href="/entry/603576#0001">603576.0001</a>) in the TRPM1 gene in the affected mother; the father was heterozygous for the mutation. <a href="#3" class="mim-tip-reference" title="Li, Z., Sergouniotis, P. I., Michaelides, M., Mackay, D. S., Wright, G. A., Devery, S., Moore, A. T., Holder, G. E., Robson, A. G., Webster, A. R. <strong>Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.</strong> Am. J. Hum. Genet. 85: 711-719, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19878917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19878917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19878917[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.2009.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19878917">Li et al. (2009)</a> screened the TRPM1 gene in 9 families that were negative for mutation in the NYX (<a href="/entry/300278">300278</a>) and GRM6 (<a href="/entry/604096">604096</a>) genes and identified compound heterozygosity for TRPM1 mutations in 2 families of Caucasian European descent (see, e.g., <a href="/entry/603576#0002">603576.0002</a>-<a href="/entry/603576#0003">603576.0003</a>). None of the mutations were found in 192 control individuals. <a href="#3" class="mim-tip-reference" title="Li, Z., Sergouniotis, P. I., Michaelides, M., Mackay, D. S., Wright, G. A., Devery, S., Moore, A. T., Holder, G. E., Robson, A. G., Webster, A. R. <strong>Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.</strong> Am. J. Hum. Genet. 85: 711-719, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19878917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19878917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19878917[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.2009.10.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19878917">Li et al. (2009)</a> noted that in their study, 7 CSNB families had no mutations in the NYX, GRM6, or TRPM1 genes, indicating possible further genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19878917" 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="Audo, I., Kohl, S., Leroy, B. P., Munier, F. L., Guillonneau, X., Mohand-Said, S., Bujakowska, K., Nandrot, E. F., Lorenz, B., Preising, M., Kellner, U., Renner, A. G., and 18 others. <strong>TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.</strong> Am. J. Hum. Genet. 85: 720-729, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896113</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896113[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.2009.10.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19896113">Audo et al. (2009)</a> analyzed the TRPM1 gene in 38 clinically diagnosed CSNB patients and identified homozygosity or compound heterozygosity for 14 causative mutations in 10 unrelated patients, including missense, splice site, deletion, and nonsense mutations (see, e.g., <a href="/entry/603576#0004">603576.0004</a>-<a href="/entry/603576#0005">603576.0005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19896113" 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 6 of 8 female probands of European ancestry with complete CSNB, who were negative for mutation in GRM6 and NYX, <a href="#5" class="mim-tip-reference" title="van Genderen, M. M., Bijveld, M. M. C., Claassen, Y. B., Florijn, R. J., Pearring, J. N., Meire, F. M., McCall, M. A., Riemslag, F. C. C., Gregg, R. G., Bergen, A. A. B., Kamermans, M. <strong>Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.</strong> Am. J. Hum. Genet. 85: 730-736, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896109[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.2009.10.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19896109">van Genderen et al. (2009)</a> identified mutations in TRPM1 (see, e.g., <a href="/entry/603576#0005">603576.0005</a>-<a href="/entry/603576#0007">603576.0007</a>). The authors noted that the ERG responses of all 6 TRPM1 probands were identical to those of CSNB patients with NYX mutations, i.e., responses at low intensities were completely absent, whereas they were similar to normal responses at higher intensities, revealing the complete absence of the primary rod pathway and mildly reduced activity of the secondary rod pathway. CSNB patients with mutations in the GRM6 gene (CSNB1B; <a href="/entry/257270">257270</a>), however, had been shown to have responses at all intensities that were markedly dissimilar in phase compared to normal responses (<a href="#7" class="mim-tip-reference" title="Zeitz, C., van Genderen, M., Neidhardt, J., Luhmann, U. F. O., Hoeben, F., Forster, U., Wycisk, K., Matyas, G., Hoyng, C. B., Riemslag, F., Meire, F., Cremers, F. P. M., Berger, W. <strong>Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.</strong> Invest. Ophthal. Vis. Sci. 46: 4328-4335, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16249515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16249515</a>] [<a href="https://doi.org/10.1167/iovs.05-0526" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16249515">Zeitz et al., 2005</a>); <a href="#5" class="mim-tip-reference" title="van Genderen, M. M., Bijveld, M. M. C., Claassen, Y. B., Florijn, R. J., Pearring, J. N., Meire, F. M., McCall, M. A., Riemslag, F. C. C., Gregg, R. G., Bergen, A. A. B., Kamermans, M. <strong>Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.</strong> Am. J. Hum. Genet. 85: 730-736, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896109[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.2009.10.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19896109">van Genderen et al. (2009)</a> concluded that detailed ERG analysis is an effective way to discriminate among patients with mutations in TRPM1 and GRM6. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16249515+19896109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Nakamura, M., Sanuki, R., Yasuma, T. R., Onishi, A., Nishiguchi, K. M., Koike, C., Kadowaki, M., Kondo, M., Miyake, Y., Furukawa, T. <strong>TRPM1 mutations are associated with the complete form of congenital stationary night blindness.</strong> Molec. Vis. 16: 425-437, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20300565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20300565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20300565[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="20300565">Nakamura et al. (2010)</a> analyzed the TRPM1 gene in 4 unrelated Japanese patients with CSNB who were known to be negative for mutation in the NYX and GRM6 genes, and identified compound heterozygosity for 5 different mutations in 3 patients (see, e.g., <a href="/entry/603576#0008">603576.0008</a>-<a href="/entry/603576#0010">603576.0010</a>). Fundus examination of the patients, who had night blindness from early childhood, revealed no abnormalities other than myopic changes; the single bright-flash, mixed rod-cone ERG showed a negative-type configuration, with a reduced normal a-wave and a significantly reduced b-wave. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20300565" 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="#6" class="mim-tip-reference" title="Witzel, D. A., Smith, E. L., Wilson, R. D., Aguirre, G. D. <strong>Congenital stationary night blindness: an animal model.</strong> Invest. Ophthal. Vis. Sci. 17: 788-795, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/308060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">308060</a>]" pmid="308060">Witzel et al. (1978)</a> described ERG studies in nyctalopic Appaloosa horses which showed photopic and scotopic abnormalities similar to those in humans with congenital stationary night blindness (CSNB) of the Schubert-Bornschein type. Photopic abnormalities consisted of reduced b-wave amplitudes and slower-than-normal b-wave implicit time; dark-adapted ERGs showed a simple negative potential, with a nonrecordable scotopic b-wave but a normal c-wave. Histologic studies revealed no structural abnormalities to account for the functional defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=308060" 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>The Appaloosa coat spotting pattern in horses is caused by a single incomplete dominant gene, designated 'LP,' homozygosity for which is directly associated with CSNB in Appaloosa horses. <a href="#2" class="mim-tip-reference" title="Bellone, R. R., Brooks, S. A., Sandmeyer, L., Murphy, B. A., Forsyth, G., Archer, S., Bailey, E., Grahn, B. <strong>Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus).</strong> Genetics 179: 1861-1870, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18660533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18660533</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18660533[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/10.1534/genetics.108.088807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18660533">Bellone et al. (2008)</a> analyzed the relative expression of 5 candidate genes located in the 6-cM LP region on horse chromosome 1 and found markedly reduced expression of TRPM1 in the retina and pigmented and unpigmented skin of homozygous LP/LP Appaloosa horses compared to non-Appaloosa lp/lp horses (p = 0.001 for all). <a href="#2" class="mim-tip-reference" title="Bellone, R. R., Brooks, S. A., Sandmeyer, L., Murphy, B. A., Forsyth, G., Archer, S., Bailey, E., Grahn, B. <strong>Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus).</strong> Genetics 179: 1861-1870, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18660533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18660533</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18660533[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/10.1534/genetics.108.088807" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18660533">Bellone et al. (2008)</a> concluded that decreased expression of TRPM1 in the eye and skin might alter bipolar cell signaling as well as melanocyte function, thus causing both CSNB and LP in horses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18660533" 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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Audo, I., Kohl, S., Leroy, B. P., Munier, F. L., Guillonneau, X., Mohand-Said, S., Bujakowska, K., Nandrot, E. F., Lorenz, B., Preising, M., Kellner, U., Renner, A. G., and 18 others.
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<strong>TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.</strong>
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Am. J. Hum. Genet. 85: 720-729, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896113/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896113</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896113[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=19896113" 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.2009.10.013" target="_blank">Full Text</a>]
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Bellone, R. R., Brooks, S. A., Sandmeyer, L., Murphy, B. A., Forsyth, G., Archer, S., Bailey, E., Grahn, B.
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<strong>Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus).</strong>
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Genetics 179: 1861-1870, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18660533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18660533</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18660533[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=18660533" 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/10.1534/genetics.108.088807" target="_blank">Full Text</a>]
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Li, Z., Sergouniotis, P. I., Michaelides, M., Mackay, D. S., Wright, G. A., Devery, S., Moore, A. T., Holder, G. E., Robson, A. G., Webster, A. R.
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<strong>Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.</strong>
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Am. J. Hum. Genet. 85: 711-719, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19878917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19878917</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19878917[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=19878917" 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.2009.10.003" target="_blank">Full Text</a>]
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Nakamura, M., Sanuki, R., Yasuma, T. R., Onishi, A., Nishiguchi, K. M., Koike, C., Kadowaki, M., Kondo, M., Miyake, Y., Furukawa, T.
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<strong>TRPM1 mutations are associated with the complete form of congenital stationary night blindness.</strong>
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Molec. Vis. 16: 425-437, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20300565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20300565</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20300565[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=20300565" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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van Genderen, M. M., Bijveld, M. M. C., Claassen, Y. B., Florijn, R. J., Pearring, J. N., Meire, F. M., McCall, M. A., Riemslag, F. C. C., Gregg, R. G., Bergen, A. A. B., Kamermans, M.
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<strong>Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.</strong>
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Am. J. Hum. Genet. 85: 730-736, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19896109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19896109</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19896109[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=19896109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Witzel, D. A., Smith, E. L., Wilson, R. D., Aguirre, G. D.
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<strong>Congenital stationary night blindness: an animal model.</strong>
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Invest. Ophthal. Vis. Sci. 17: 788-795, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/308060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">308060</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=308060" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Zeitz, C., van Genderen, M., Neidhardt, J., Luhmann, U. F. O., Hoeben, F., Forster, U., Wycisk, K., Matyas, G., Hoyng, C. B., Riemslag, F., Meire, F., Cremers, F. P. M., Berger, W.
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<strong>Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.</strong>
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Invest. Ophthal. Vis. Sci. 46: 4328-4335, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16249515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16249515</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16249515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Marla J. F. O'Neill - updated : 3/24/2011
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Marla J. F. O'Neill : 1/12/2010
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carol : 09/14/2011
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terry : 9/13/2011<br>terry : 4/26/2011<br>alopez : 3/24/2011<br>terry : 3/24/2011<br>wwang : 2/22/2010<br>carol : 1/20/2010<br>wwang : 1/12/2010
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<strong>#</strong> 613216
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NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C; CSNB1C
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CSNB, COMPLETE, AUTOSOMAL RECESSIVE
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<strong>ORPHA:</strong> 215;
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<strong>DO:</strong> 0110867;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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15q13.3
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Night blindness, congenital stationary (complete), 1C, autosomal recessive
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613216
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Autosomal recessive
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<span class="mim-font">
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3
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TRPM1
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603576
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive complete congenital stationary night blindness-1C can be caused by homozygous or compound heterozygous mutation in the TRPM1 gene (603576) on chromosome 15q13-q14.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of congenital stationary night blindness, see CSNB1A (310500).</p>
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<strong>Clinical Features</strong>
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<p>Li et al. (2009) studied 3 families with complete congenital stationary night blindness (CSNB), 1 of South Asian ethnicity and 2 of Caucasian European descent, in which affected members had myopia, reduced central vision, nystagmus, and electroretinographic (ERG) evidence of ON bipolar cell dysfunction typical of complete CSNB. None had abnormalities of skin pigmentation, although other skin conditions were reported, including dry skin requiring emollients, a history of treatment for 'eczema,' and an uncharacterized condition 'similar to epidermolysis bullosa simplex.' </p>
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<strong>Mapping</strong>
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<p>In a consanguineous family of South Asian ethnicity with complete CSNB, Li et al. (2009) performed genomewide linkage analysis and identified a 15.9-Mb candidate region on proximal chromosome 15q, flanked by the polymorphisms rs2090622 and rs10518928. </p>
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<strong>Molecular Genetics</strong>
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<p>In a consanguineous family of South Asian ethnicity with complete CSNB, Li et al. (2009) identified homozygosity for a splice site mutation (603576.0001) in the TRPM1 gene in the affected mother; the father was heterozygous for the mutation. Li et al. (2009) screened the TRPM1 gene in 9 families that were negative for mutation in the NYX (300278) and GRM6 (604096) genes and identified compound heterozygosity for TRPM1 mutations in 2 families of Caucasian European descent (see, e.g., 603576.0002-603576.0003). None of the mutations were found in 192 control individuals. Li et al. (2009) noted that in their study, 7 CSNB families had no mutations in the NYX, GRM6, or TRPM1 genes, indicating possible further genetic heterogeneity. </p><p>Audo et al. (2009) analyzed the TRPM1 gene in 38 clinically diagnosed CSNB patients and identified homozygosity or compound heterozygosity for 14 causative mutations in 10 unrelated patients, including missense, splice site, deletion, and nonsense mutations (see, e.g., 603576.0004-603576.0005). </p><p>In 6 of 8 female probands of European ancestry with complete CSNB, who were negative for mutation in GRM6 and NYX, van Genderen et al. (2009) identified mutations in TRPM1 (see, e.g., 603576.0005-603576.0007). The authors noted that the ERG responses of all 6 TRPM1 probands were identical to those of CSNB patients with NYX mutations, i.e., responses at low intensities were completely absent, whereas they were similar to normal responses at higher intensities, revealing the complete absence of the primary rod pathway and mildly reduced activity of the secondary rod pathway. CSNB patients with mutations in the GRM6 gene (CSNB1B; 257270), however, had been shown to have responses at all intensities that were markedly dissimilar in phase compared to normal responses (Zeitz et al., 2005); van Genderen et al. (2009) concluded that detailed ERG analysis is an effective way to discriminate among patients with mutations in TRPM1 and GRM6. </p><p>Nakamura et al. (2010) analyzed the TRPM1 gene in 4 unrelated Japanese patients with CSNB who were known to be negative for mutation in the NYX and GRM6 genes, and identified compound heterozygosity for 5 different mutations in 3 patients (see, e.g., 603576.0008-603576.0010). Fundus examination of the patients, who had night blindness from early childhood, revealed no abnormalities other than myopic changes; the single bright-flash, mixed rod-cone ERG showed a negative-type configuration, with a reduced normal a-wave and a significantly reduced b-wave. </p>
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<strong>Animal Model</strong>
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<p>Witzel et al. (1978) described ERG studies in nyctalopic Appaloosa horses which showed photopic and scotopic abnormalities similar to those in humans with congenital stationary night blindness (CSNB) of the Schubert-Bornschein type. Photopic abnormalities consisted of reduced b-wave amplitudes and slower-than-normal b-wave implicit time; dark-adapted ERGs showed a simple negative potential, with a nonrecordable scotopic b-wave but a normal c-wave. Histologic studies revealed no structural abnormalities to account for the functional defect. </p><p>The Appaloosa coat spotting pattern in horses is caused by a single incomplete dominant gene, designated 'LP,' homozygosity for which is directly associated with CSNB in Appaloosa horses. Bellone et al. (2008) analyzed the relative expression of 5 candidate genes located in the 6-cM LP region on horse chromosome 1 and found markedly reduced expression of TRPM1 in the retina and pigmented and unpigmented skin of homozygous LP/LP Appaloosa horses compared to non-Appaloosa lp/lp horses (p = 0.001 for all). Bellone et al. (2008) concluded that decreased expression of TRPM1 in the eye and skin might alter bipolar cell signaling as well as melanocyte function, thus causing both CSNB and LP in horses. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Audo, I., Kohl, S., Leroy, B. P., Munier, F. L., Guillonneau, X., Mohand-Said, S., Bujakowska, K., Nandrot, E. F., Lorenz, B., Preising, M., Kellner, U., Renner, A. G., and 18 others.
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<strong>TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.</strong>
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Am. J. Hum. Genet. 85: 720-729, 2009.
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[PubMed: 19896113]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.10.013]
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<li>
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Bellone, R. R., Brooks, S. A., Sandmeyer, L., Murphy, B. A., Forsyth, G., Archer, S., Bailey, E., Grahn, B.
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<strong>Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus).</strong>
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Genetics 179: 1861-1870, 2008.
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[PubMed: 18660533]
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[Full Text: https://doi.org/10.1534/genetics.108.088807]
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Li, Z., Sergouniotis, P. I., Michaelides, M., Mackay, D. S., Wright, G. A., Devery, S., Moore, A. T., Holder, G. E., Robson, A. G., Webster, A. R.
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<strong>Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.</strong>
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Am. J. Hum. Genet. 85: 711-719, 2009.
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[PubMed: 19878917]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.10.003]
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</li>
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<li>
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<p class="mim-text-font">
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Nakamura, M., Sanuki, R., Yasuma, T. R., Onishi, A., Nishiguchi, K. M., Koike, C., Kadowaki, M., Kondo, M., Miyake, Y., Furukawa, T.
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<strong>TRPM1 mutations are associated with the complete form of congenital stationary night blindness.</strong>
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Molec. Vis. 16: 425-437, 2010.
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[PubMed: 20300565]
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</li>
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<li>
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<p class="mim-text-font">
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van Genderen, M. M., Bijveld, M. M. C., Claassen, Y. B., Florijn, R. J., Pearring, J. N., Meire, F. M., McCall, M. A., Riemslag, F. C. C., Gregg, R. G., Bergen, A. A. B., Kamermans, M.
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<strong>Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.</strong>
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Am. J. Hum. Genet. 85: 730-736, 2009.
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[PubMed: 19896109]
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[Full Text: https://doi.org/10.1016/j.ajhg.2009.10.012]
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<li>
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<p class="mim-text-font">
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Witzel, D. A., Smith, E. L., Wilson, R. D., Aguirre, G. D.
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<strong>Congenital stationary night blindness: an animal model.</strong>
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Invest. Ophthal. Vis. Sci. 17: 788-795, 1978.
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[PubMed: 308060]
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Zeitz, C., van Genderen, M., Neidhardt, J., Luhmann, U. F. O., Hoeben, F., Forster, U., Wycisk, K., Matyas, G., Hoyng, C. B., Riemslag, F., Meire, F., Cremers, F. P. M., Berger, W.
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<strong>Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.</strong>
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Invest. Ophthal. Vis. Sci. 46: 4328-4335, 2005.
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[PubMed: 16249515]
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[Full Text: https://doi.org/10.1167/iovs.05-0526]
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Contributors:
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Marla J. F. O'Neill - updated : 9/13/2011<br>Marla J. F. O'Neill - updated : 3/24/2011
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Creation Date:
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Marla J. F. O'Neill : 1/12/2010
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Edit History:
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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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carol : 09/14/2011<br>terry : 9/13/2011<br>terry : 4/26/2011<br>alopez : 3/24/2011<br>terry : 3/24/2011<br>wwang : 2/22/2010<br>carol : 1/20/2010<br>wwang : 1/12/2010
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