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Entry
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- #610427 - CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE; CRSD
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- OMIM
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<p>
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<span class="h4">#610427</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/610427"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#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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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE) OR (CABP4)" 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/9016" 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=610427[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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<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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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 215<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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610427
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE; CRSD
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B, FORMERLY; CSNB2B, FORMERLY<br />
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NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE, FORMERLY
|
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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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<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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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/11/666?start=-3&limit=10&highlight=666">
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11q13.2
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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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Cone-rod synaptic disorder, congenital nonprogressive
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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/610427"> 610427 </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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</td>
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<td>
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<span class="mim-font">
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CABP4
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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/608965"> 608965 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/610427" 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 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/610427" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/610427" 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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<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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<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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- Decreased visual acuity from infancy or early childhood <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230088&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230088</a>]</span><br /> -
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Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
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Photophobia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409668002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409668002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246622003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246622003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000613" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000613</a>]</span><br /> -
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Strabismus (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
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Night blindness (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65194006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65194006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.6</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/368.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.60</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000662" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000662</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000662" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000662</a>]</span><br /> -
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Abnormal color vision (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23289000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23289000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234629</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000551</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000551</a>]</span><br /> -
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Funduscopy unremarkable (in most patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230085&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230085</a>]</span><br /> -
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Decreased or absent foveal reflex (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230084&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230084</a>]</span><br /> -
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Slightly elevated dark-adaptation threshold <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230083&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230083</a>]</span><br /> -
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Rod responses normal or near-normal on electroretinography (ERG) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230082&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230082</a>]</span><br /> -
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Intact slow sensitive rod pathway <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230081</a>]</span><br /> -
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Absent or severely abnormal fast insensitive rod pathway <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230080&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230080</a>]</span><br /> -
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Severely reduced cone responses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4227352&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4227352</a>]</span><br /> -
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Nonrecordable ERG (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230079&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230079</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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- Congenital reduction in visual acuity is nonprogressive<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 calcium-binding protein-4 gene (CABP4, <a href="/entry/608965#0001">608965.0001</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>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that congenital nonprogressive cone-rod synaptic disorder (CRSD) is caused by homozygous or compound heterozygous mutation in the gene encoding calcium-binding protein-4 (CABP4; <a href="/entry/608965">608965</a>) on chromosome 11q13.</p><p>A syndromic form of CRSD (CRSDS; <a href="/entry/618970">618970</a>) is caused by mutation in the RIMS2 gene (<a href="/entry/606630">606630</a>) on chromosome 8q22.</p>
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</span>
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<div>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Congenital nonprogressive cone-rod synaptic disorder (CRSD) is characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. Electroretinography shows an electronegative waveform response to scotopic bright flash, near-normal to subnormal rod function, and delayed and/or decreased to nonrecordable cone responses (<a href="#6" class="mim-tip-reference" title="Traboulsi, E. I. <strong>Childhood retinal dystrophies: what's in a name? (Editorial)</strong> Brit. J. Ophthal. 97: 247 only, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23242674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23242674</a>] [<a href="https://doi.org/10.1136/bjophthalmol-2012-302703" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23242674">Traboulsi, 2013</a>; <a href="#4" class="mim-tip-reference" title="Khan, A. O. <strong>CABP4 mutations do not cause congenital stationary night blindness. (Letter)</strong> Ophthalmology 121: e15, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24332535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24332535</a>] [<a href="https://doi.org/10.1016/j.ophtha.2013.11.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24332535">Khan, 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24332535+23242674" 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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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</h4>
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<p><a href="#7" class="mim-tip-reference" title="Zeitz, C., Kloeckener-Gruissem, B., Forster, U., Kohl, S., Magyar, I., Wissinger, B., Matyas, G., Borruat, F.-X., Schorderet, D. F., Zrenner, E., Munier, F. L., Berger, W. <strong>Mutations in CABP4, the gene encoding the Ca(2+)-binding protein 4, cause autosomal recessive night blindness.</strong> Am. J. Hum. Genet. 79: 657-667, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/508067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960802">Zeitz et al. (2006)</a> studied 3 patients from 2 unrelated families who exhibited electroretinographic (ERG) findings consistent with congenital stationary night blindness (CSNB; see <a href="/entry/310500">310500</a>). The first family consisted of the index patient and his affected brother, 4 unaffected sibs, and their unaffected parents. The 2 patients presented with nystagmus and decreased visual acuity in early childhood. In both patients at age 15 years, best corrected visual acuity was 20/100 in both eyes. The disease course in the index patient was stationary for 30 years; however, he experienced a decrease in visual acuity near the time of the report. Neither patient complained about night blindness, and only the index patient developed moderate photophobia accompanied by a mild decrease in visual acuity. The 2 brothers were 39 and 45 years old at the time of the report. The index patient of the second family was the only affected member. He reported decreased visual acuity and night blindness at age 15 years. Visual acuity was reduced to 20/30 in both eyes. ERG showed a pattern typical for CSNB in general, with a well developed a-wave but a minimal b-wave. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16960802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Littink, K. W., van Genderen, M. M., Collin, R. W. J., Roosing, S., de Brouwer, A. P. M., Riemslag, F. C. C., Venselaar, H., Thiadens, A. A. H. J., Hoyng, C. B., Rohrschneider, K., den Hollander, A. I., Cremers, F. P. M., van den Born, L. I. <strong>A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.</strong> Invest. Ophthal. Vis. Sci. 50: 2344-2350, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19074807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19074807</a>] [<a href="https://doi.org/10.1167/iovs.08-2553" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19074807">Littink et al. (2009)</a> described a Dutch brother and sister who had decreased visual acuity and nystagmus since early childhood, associated with photophobia but not with night blindness. Examination at ages 12 and 10 years, respectively, showed visual acuities of 20/200 to 20/400, which had not changed over a 6-year period. Slit-lamp examination and funduscopy were unremarkable. Both sibs showed severely abnormal deutan color vision. Dark-adaptation curves were biphasic, with a slightly elevated final threshold. ERGs showed rod responses that were normal in the brother and low normal in the sister; both had absent cone a-waves and an electronegative configuration with absent b-waves. Cone responses were severely reduced, and 30-Hz photopic flicker responses showed the double-peak waveform characteristic of CSNB2. Rod responses showed an intact slow sensitive rod pathway, but an absent or severely abnormal fast insensitive rod pathway. Because the patients did not experience night blindness, <a href="#5" class="mim-tip-reference" title="Littink, K. W., van Genderen, M. M., Collin, R. W. J., Roosing, S., de Brouwer, A. P. M., Riemslag, F. C. C., Venselaar, H., Thiadens, A. A. H. J., Hoyng, C. B., Rohrschneider, K., den Hollander, A. I., Cremers, F. P. M., van den Born, L. I. <strong>A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.</strong> Invest. Ophthal. Vis. Sci. 50: 2344-2350, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19074807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19074807</a>] [<a href="https://doi.org/10.1167/iovs.08-2553" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19074807">Littink et al. (2009)</a> designated the phenotype 'congenital cone-rod synaptic disorder.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19074807" 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="Aldahmesh, M. A., Al-Owain, M., Alqahtani, F., Hazzaa, S., Alkuraya, F. S. <strong>A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.</strong> Molec. Vision 16: 207-212, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20157620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20157620</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20157620[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="20157620">Aldahmesh et al. (2010)</a> reported 4 sibs, born of first-cousin Bedouin parents, who had very poor vision since infancy with nystagmus and lack of fixation or tracking. The proband was a 15-year-old girl who had a history of photophobia but not night blindness, with normal color vision. Examination revealed nystagmus and eccentric fixation, with a best-corrected visual acuity of 20/400 in both eyes; the visual acuity measurement was unchanged from early childhood, indicating the nonprogressive nature of the vision loss. Funduscopy was normal except for decreased foveal reflex, and ERG was extinguished under both photopic and scotopic conditions. The patient's 3 affected sibs exhibited a strikingly similar clinical profile; however, in 1 sister the ERG was not extinguished, but rather severely decreased under photopic conditions with normal implicit time on photopic flicker, and her scotopic ERG was borderline with a normal oscillatory potential. Two of the affected sibs had strabismus, which was surgically corrected. All 4 affected sibs had normal intellect and growth, and systemic evaluation was unremarkable. <a href="#1" class="mim-tip-reference" title="Aldahmesh, M. A., Al-Owain, M., Alqahtani, F., Hazzaa, S., Alkuraya, F. S. <strong>A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.</strong> Molec. Vision 16: 207-212, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20157620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20157620</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20157620[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="20157620">Aldahmesh et al. (2010)</a> considered the phenotype to be 'LCA-like' (see <a href="/entry/204000">204000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20157620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Khan, A. O., Alrashed, M., Alkuraya, F. S. <strong>Clinical characterisation of the CABP4-related retinal phenotype.</strong> Brit. J. Ophthal. 97: 262-265, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23099293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23099293</a>] [<a href="https://doi.org/10.1136/bjophthalmol-2012-302186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23099293">Khan et al. (2013)</a> studied 7 affected individuals from 3 consanguineous Saudi families with early-onset retinal dysfunction. Including the 4 previously reported Bedouin sibs by <a href="#1" class="mim-tip-reference" title="Aldahmesh, M. A., Al-Owain, M., Alqahtani, F., Hazzaa, S., Alkuraya, F. S. <strong>A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.</strong> Molec. Vision 16: 207-212, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20157620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20157620</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20157620[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="20157620">Aldahmesh et al. (2010)</a>, <a href="#3" class="mim-tip-reference" title="Khan, A. O., Alrashed, M., Alkuraya, F. S. <strong>Clinical characterisation of the CABP4-related retinal phenotype.</strong> Brit. J. Ophthal. 97: 262-265, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23099293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23099293</a>] [<a href="https://doi.org/10.1136/bjophthalmol-2012-302186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23099293">Khan et al. (2013)</a> noted that all 11 patients had congenital nystagmus, low vision that was considered stable, and photophobia. All denied night blindness upon specific questioning, and all had a normal or near-normal fundus appearance. Affected individuals in the Saudi families had recordable ERGs similar to those of the 1 Bedouin sister, with an electronegative waveform to scotopic flash, near-normal or subnormal rod function, and decreased and delayed cone responses to photopic flash. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20157620+23099293" 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 Dutch brother and sister with congenital nonprogressive cone-rod synaptic disorder, <a href="#5" class="mim-tip-reference" title="Littink, K. W., van Genderen, M. M., Collin, R. W. J., Roosing, S., de Brouwer, A. P. M., Riemslag, F. C. C., Venselaar, H., Thiadens, A. A. H. J., Hoyng, C. B., Rohrschneider, K., den Hollander, A. I., Cremers, F. P. M., van den Born, L. I. <strong>A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.</strong> Invest. Ophthal. Vis. Sci. 50: 2344-2350, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19074807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19074807</a>] [<a href="https://doi.org/10.1167/iovs.08-2553" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19074807">Littink et al. (2009)</a> performed genomewide homozygosity mapping and identified 2 homozygous regions, the largest of which was a 9-Mb region on 11q13.1-q13.5 that encompassed the CABP4 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19074807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 Bedouin sibs with decreased visual acuity from infancy and extinguished or markedly reduced ERG responses, <a href="#1" class="mim-tip-reference" title="Aldahmesh, M. A., Al-Owain, M., Alqahtani, F., Hazzaa, S., Alkuraya, F. S. <strong>A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.</strong> Molec. Vision 16: 207-212, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20157620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20157620</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20157620[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="20157620">Aldahmesh et al. (2010)</a> found only 1 shared block of homozygosity, with a minimal 3.29-Mb area of overlap on chromosome 11q13, encompassing 157 genes, including CABP4. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20157620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of CRSD in the patients reported by <a href="#7" class="mim-tip-reference" title="Zeitz, C., Kloeckener-Gruissem, B., Forster, U., Kohl, S., Magyar, I., Wissinger, B., Matyas, G., Borruat, F.-X., Schorderet, D. F., Zrenner, E., Munier, F. L., Berger, W. <strong>Mutations in CABP4, the gene encoding the Ca(2+)-binding protein 4, cause autosomal recessive night blindness.</strong> Am. J. Hum. Genet. 79: 657-667, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/508067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960802">Zeitz et al. (2006)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16960802" 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 2 Swiss brothers who had decreased visual acuity without night blindness and who exhibited ERG findings consistent with CSNB2 (<a href="/entry/300071">300071</a>) but were negative for mutation in the CACNA1F gene (<a href="/entry/300110">300110</a>), <a href="#7" class="mim-tip-reference" title="Zeitz, C., Kloeckener-Gruissem, B., Forster, U., Kohl, S., Magyar, I., Wissinger, B., Matyas, G., Borruat, F.-X., Schorderet, D. F., Zrenner, E., Munier, F. L., Berger, W. <strong>Mutations in CABP4, the gene encoding the Ca(2+)-binding protein 4, cause autosomal recessive night blindness.</strong> Am. J. Hum. Genet. 79: 657-667, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/508067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960802">Zeitz et al. (2006)</a> identified homozygosity for a 2-bp deletion in the CABP4 gene (800delAG; <a href="/entry/608965#0001">608965.0001</a>). In addition, a 15-year-old boy from an unrelated family of Swiss ancestry, who did experience night blindness and whose ERG showed a pattern typical for CSNB in general, was compound heterozygous for the 2-bp deletion and a missense mutation in CABP4 (R124C; <a href="/entry/608965#0002">608965.0002</a>). He was also hemizygous for an N735T missense mutation in the CACNA1F gene, as was his unaffected brother, and his mother was a heterozygous carrier of the variant. <a href="#7" class="mim-tip-reference" title="Zeitz, C., Kloeckener-Gruissem, B., Forster, U., Kohl, S., Magyar, I., Wissinger, B., Matyas, G., Borruat, F.-X., Schorderet, D. F., Zrenner, E., Munier, F. L., Berger, W. <strong>Mutations in CABP4, the gene encoding the Ca(2+)-binding protein 4, cause autosomal recessive night blindness.</strong> Am. J. Hum. Genet. 79: 657-667, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/508067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960802">Zeitz et al. (2006)</a> concluded that the CACNA1F variant was not itself disease-causing but might modify the phenotype. <a href="#7" class="mim-tip-reference" title="Zeitz, C., Kloeckener-Gruissem, B., Forster, U., Kohl, S., Magyar, I., Wissinger, B., Matyas, G., Borruat, F.-X., Schorderet, D. F., Zrenner, E., Munier, F. L., Berger, W. <strong>Mutations in CABP4, the gene encoding the Ca(2+)-binding protein 4, cause autosomal recessive night blindness.</strong> Am. J. Hum. Genet. 79: 657-667, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/508067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16960802">Zeitz et al. (2006)</a> showed that these mutations reduced CABP4 transcript levels to 30 to 40% of those in controls. On the basis of haplotype reconstruction and the Swiss ancestry of both families, a common origin of the 2-bp deletion in all 3 apparently unrelated individuals was considered possible. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16960802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Dutch brother and sister with congenital nonprogressive cone-rod synaptic disorder mapping to chromosome 11q13.1-q13.5, <a href="#5" class="mim-tip-reference" title="Littink, K. W., van Genderen, M. M., Collin, R. W. J., Roosing, S., de Brouwer, A. P. M., Riemslag, F. C. C., Venselaar, H., Thiadens, A. A. H. J., Hoyng, C. B., Rohrschneider, K., den Hollander, A. I., Cremers, F. P. M., van den Born, L. I. <strong>A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.</strong> Invest. Ophthal. Vis. Sci. 50: 2344-2350, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19074807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19074807</a>] [<a href="https://doi.org/10.1167/iovs.08-2553" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19074807">Littink et al. (2009)</a> sequenced the CABP4 gene and identified homozygosity for a nonsense mutation (R216X; <a href="/entry/608965#0003">608965.0003</a>). Their unaffected parents were heterozygous for the mutation, which was not found in 300 ethnically matched alleles. Sequence analysis of all coding exons of CABP4 in 85 additional Dutch patients with cone or cone-rod dystrophy did not reveal any mutations, suggesting that CABP4 mutations are not a major cause for those progressive retinal dystrophies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19074807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 Bedouin sibs with decreased visual acuity from infancy and extinguished or markedly reduced ERG responses mapping to chromosome 11q13, <a href="#1" class="mim-tip-reference" title="Aldahmesh, M. A., Al-Owain, M., Alqahtani, F., Hazzaa, S., Alkuraya, F. S. <strong>A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.</strong> Molec. Vision 16: 207-212, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20157620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20157620</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20157620[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="20157620">Aldahmesh et al. (2010)</a> directly sequenced the CABP4 gene and identified homozygosity for a 1-bp insertion (<a href="/entry/608965#0004">608965.0004</a>); their unaffected first-cousin parents and 1 unaffected brother were heterozygous carriers of the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20157620" 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 7 patients from 3 consanguineous Saudi families with early-onset retinal dysfunction, <a href="#3" class="mim-tip-reference" title="Khan, A. O., Alrashed, M., Alkuraya, F. S. <strong>Clinical characterisation of the CABP4-related retinal phenotype.</strong> Brit. J. Ophthal. 97: 262-265, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23099293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23099293</a>] [<a href="https://doi.org/10.1136/bjophthalmol-2012-302186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23099293">Khan et al. (2013)</a> identified homozygosity for the same 1-bp insertion that had been identified in 4 Bedouin sibs by <a href="#1" class="mim-tip-reference" title="Aldahmesh, M. A., Al-Owain, M., Alqahtani, F., Hazzaa, S., Alkuraya, F. S. <strong>A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.</strong> Molec. Vision 16: 207-212, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20157620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20157620</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20157620[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>]" pmid="20157620">Aldahmesh et al. (2010)</a>. Haplotype analysis confirmed a shared haplotype surrounding the mutation for all 4 families. <a href="#3" class="mim-tip-reference" title="Khan, A. O., Alrashed, M., Alkuraya, F. S. <strong>Clinical characterisation of the CABP4-related retinal phenotype.</strong> Brit. J. Ophthal. 97: 262-265, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23099293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23099293</a>] [<a href="https://doi.org/10.1136/bjophthalmol-2012-302186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23099293">Khan et al. (2013)</a> noted that all reported patients with homozygous mutations in the CABP4 gene had congenital nystagmus, low vision that was considered stable, photophobia, no night blindness, a normal or near-normal fundus, and a typically hyperopic refraction. The authors stated that the best designation for the CABP4 phenotype is 'congenital cone-rod synaptic disorder.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20157620+23099293" 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>Among a cohort of 101 Dutch patients diagnosed with congenital stationary night blindness, <a href="#2" class="mim-tip-reference" title="Bijveld, M. M. C., Florijn, R. J., Bergen, A. A. B., van den Born, L. I., Kamermans, M., Prick, L., Riemslag, F. C. C., van Schooneveld, M. J., Kappers, A. M. L., van Genderen, M. M. <strong>Genotype and phenotype of 101 Dutch patients with congenital stationary night blindness.</strong> Ophthalmology 120: 2072-2081, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23714322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23714322</a>] [<a href="https://doi.org/10.1016/j.ophtha.2013.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23714322">Bijveld et al. (2013)</a> analyzed 6 known CSNB-related genes and identified the R216X mutation in the CABP4 gene in 1 female patient. However, <a href="#2" class="mim-tip-reference" title="Bijveld, M. M. C., Florijn, R. J., Bergen, A. A. B., van den Born, L. I., Kamermans, M., Prick, L., Riemslag, F. C. C., van Schooneveld, M. J., Kappers, A. M. L., van Genderen, M. M. <strong>Genotype and phenotype of 101 Dutch patients with congenital stationary night blindness.</strong> Ophthalmology 120: 2072-2081, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23714322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23714322</a>] [<a href="https://doi.org/10.1016/j.ophtha.2013.03.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23714322">Bijveld et al. (2013)</a> noted that this patient, as well as the previously reported Dutch sibs (<a href="#5" class="mim-tip-reference" title="Littink, K. W., van Genderen, M. M., Collin, R. W. J., Roosing, S., de Brouwer, A. P. M., Riemslag, F. C. C., Venselaar, H., Thiadens, A. A. H. J., Hoyng, C. B., Rohrschneider, K., den Hollander, A. I., Cremers, F. P. M., van den Born, L. I. <strong>A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.</strong> Invest. Ophthal. Vis. Sci. 50: 2344-2350, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19074807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19074807</a>] [<a href="https://doi.org/10.1167/iovs.08-2553" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19074807">Littink et al., 2009</a>) who were also homozygous for R216X, exhibited a phenotype distinct from CSNB: their problems were almost exclusively cone-related, including relatively low visual acuity, hyperopia, severe nonspecific color vision defects, and photophobia, with a slightly elevated (1.0 log) dark adaptation threshold. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19074807+23714322" 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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Aldahmesh, M. A., Al-Owain, M., Alqahtani, F., Hazzaa, S., Alkuraya, F. S.
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<strong>A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.</strong>
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Molec. Vision 16: 207-212, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20157620/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20157620</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20157620[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=20157620" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bijveld, M. M. C., Florijn, R. J., Bergen, A. A. B., van den Born, L. I., Kamermans, M., Prick, L., Riemslag, F. C. C., van Schooneveld, M. J., Kappers, A. M. L., van Genderen, M. M.
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<strong>Genotype and phenotype of 101 Dutch patients with congenital stationary night blindness.</strong>
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Ophthalmology 120: 2072-2081, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23714322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23714322</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23714322" 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.ophtha.2013.03.002" target="_blank">Full Text</a>]
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Khan, A. O., Alrashed, M., Alkuraya, F. S.
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<strong>Clinical characterisation of the CABP4-related retinal phenotype.</strong>
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Brit. J. Ophthal. 97: 262-265, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23099293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23099293</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23099293" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/bjophthalmol-2012-302186" target="_blank">Full Text</a>]
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Khan, A. O.
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<strong>CABP4 mutations do not cause congenital stationary night blindness. (Letter)</strong>
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Ophthalmology 121: e15, 2014. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24332535/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24332535</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24332535" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Littink, K. W., van Genderen, M. M., Collin, R. W. J., Roosing, S., de Brouwer, A. P. M., Riemslag, F. C. C., Venselaar, H., Thiadens, A. A. H. J., Hoyng, C. B., Rohrschneider, K., den Hollander, A. I., Cremers, F. P. M., van den Born, L. I.
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<strong>A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.</strong>
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Invest. Ophthal. Vis. Sci. 50: 2344-2350, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19074807/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19074807</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19074807" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Childhood retinal dystrophies: what's in a name? (Editorial)</strong>
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Brit. J. Ophthal. 97: 247 only, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23242674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23242674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23242674" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/bjophthalmol-2012-302703" target="_blank">Full Text</a>]
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Zeitz, C., Kloeckener-Gruissem, B., Forster, U., Kohl, S., Magyar, I., Wissinger, B., Matyas, G., Borruat, F.-X., Schorderet, D. F., Zrenner, E., Munier, F. L., Berger, W.
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<strong>Mutations in CABP4, the gene encoding the Ca(2+)-binding protein 4, cause autosomal recessive night blindness.</strong>
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Am. J. Hum. Genet. 79: 657-667, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16960802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16960802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16960802[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=16960802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/508067" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 3/24/2011
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alopez : 04/12/2024
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carol : 01/30/2024<br>alopez : 07/29/2020<br>carol : 02/03/2016<br>carol : 5/22/2015<br>mcolton : 5/21/2015<br>terry : 3/24/2011<br>alopez : 9/25/2006<br>alopez : 9/25/2006
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<strong>#</strong> 610427
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CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE; CRSD
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NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B, FORMERLY; CSNB2B, FORMERLY<br />
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NIGHT BLINDNESS, CONGENITAL STATIONARY, INCOMPLETE, AUTOSOMAL RECESSIVE, FORMERLY
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<strong>ORPHA:</strong> 215;
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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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11q13.2
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Cone-rod synaptic disorder, congenital nonprogressive
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610427
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Autosomal recessive
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CABP4
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608965
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<p>A number sign (#) is used with this entry because of evidence that congenital nonprogressive cone-rod synaptic disorder (CRSD) is caused by homozygous or compound heterozygous mutation in the gene encoding calcium-binding protein-4 (CABP4; 608965) on chromosome 11q13.</p><p>A syndromic form of CRSD (CRSDS; 618970) is caused by mutation in the RIMS2 gene (606630) on chromosome 8q22.</p>
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<strong>Description</strong>
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<p>Congenital nonprogressive cone-rod synaptic disorder (CRSD) is characterized by stable low vision, nystagmus, photophobia, a normal or near-normal fundus appearance, and no night blindness. Electroretinography shows an electronegative waveform response to scotopic bright flash, near-normal to subnormal rod function, and delayed and/or decreased to nonrecordable cone responses (Traboulsi, 2013; Khan, 2014). </p>
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<strong>Clinical Features</strong>
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<p>Zeitz et al. (2006) studied 3 patients from 2 unrelated families who exhibited electroretinographic (ERG) findings consistent with congenital stationary night blindness (CSNB; see 310500). The first family consisted of the index patient and his affected brother, 4 unaffected sibs, and their unaffected parents. The 2 patients presented with nystagmus and decreased visual acuity in early childhood. In both patients at age 15 years, best corrected visual acuity was 20/100 in both eyes. The disease course in the index patient was stationary for 30 years; however, he experienced a decrease in visual acuity near the time of the report. Neither patient complained about night blindness, and only the index patient developed moderate photophobia accompanied by a mild decrease in visual acuity. The 2 brothers were 39 and 45 years old at the time of the report. The index patient of the second family was the only affected member. He reported decreased visual acuity and night blindness at age 15 years. Visual acuity was reduced to 20/30 in both eyes. ERG showed a pattern typical for CSNB in general, with a well developed a-wave but a minimal b-wave. </p><p>Littink et al. (2009) described a Dutch brother and sister who had decreased visual acuity and nystagmus since early childhood, associated with photophobia but not with night blindness. Examination at ages 12 and 10 years, respectively, showed visual acuities of 20/200 to 20/400, which had not changed over a 6-year period. Slit-lamp examination and funduscopy were unremarkable. Both sibs showed severely abnormal deutan color vision. Dark-adaptation curves were biphasic, with a slightly elevated final threshold. ERGs showed rod responses that were normal in the brother and low normal in the sister; both had absent cone a-waves and an electronegative configuration with absent b-waves. Cone responses were severely reduced, and 30-Hz photopic flicker responses showed the double-peak waveform characteristic of CSNB2. Rod responses showed an intact slow sensitive rod pathway, but an absent or severely abnormal fast insensitive rod pathway. Because the patients did not experience night blindness, Littink et al. (2009) designated the phenotype 'congenital cone-rod synaptic disorder.' </p><p>Aldahmesh et al. (2010) reported 4 sibs, born of first-cousin Bedouin parents, who had very poor vision since infancy with nystagmus and lack of fixation or tracking. The proband was a 15-year-old girl who had a history of photophobia but not night blindness, with normal color vision. Examination revealed nystagmus and eccentric fixation, with a best-corrected visual acuity of 20/400 in both eyes; the visual acuity measurement was unchanged from early childhood, indicating the nonprogressive nature of the vision loss. Funduscopy was normal except for decreased foveal reflex, and ERG was extinguished under both photopic and scotopic conditions. The patient's 3 affected sibs exhibited a strikingly similar clinical profile; however, in 1 sister the ERG was not extinguished, but rather severely decreased under photopic conditions with normal implicit time on photopic flicker, and her scotopic ERG was borderline with a normal oscillatory potential. Two of the affected sibs had strabismus, which was surgically corrected. All 4 affected sibs had normal intellect and growth, and systemic evaluation was unremarkable. Aldahmesh et al. (2010) considered the phenotype to be 'LCA-like' (see 204000). </p><p>Khan et al. (2013) studied 7 affected individuals from 3 consanguineous Saudi families with early-onset retinal dysfunction. Including the 4 previously reported Bedouin sibs by Aldahmesh et al. (2010), Khan et al. (2013) noted that all 11 patients had congenital nystagmus, low vision that was considered stable, and photophobia. All denied night blindness upon specific questioning, and all had a normal or near-normal fundus appearance. Affected individuals in the Saudi families had recordable ERGs similar to those of the 1 Bedouin sister, with an electronegative waveform to scotopic flash, near-normal or subnormal rod function, and decreased and delayed cone responses to photopic flash. </p>
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<strong>Mapping</strong>
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<p>In a Dutch brother and sister with congenital nonprogressive cone-rod synaptic disorder, Littink et al. (2009) performed genomewide homozygosity mapping and identified 2 homozygous regions, the largest of which was a 9-Mb region on 11q13.1-q13.5 that encompassed the CABP4 gene. </p><p>In 4 Bedouin sibs with decreased visual acuity from infancy and extinguished or markedly reduced ERG responses, Aldahmesh et al. (2010) found only 1 shared block of homozygosity, with a minimal 3.29-Mb area of overlap on chromosome 11q13, encompassing 157 genes, including CABP4. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of CRSD in the patients reported by Zeitz et al. (2006) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In 2 Swiss brothers who had decreased visual acuity without night blindness and who exhibited ERG findings consistent with CSNB2 (300071) but were negative for mutation in the CACNA1F gene (300110), Zeitz et al. (2006) identified homozygosity for a 2-bp deletion in the CABP4 gene (800delAG; 608965.0001). In addition, a 15-year-old boy from an unrelated family of Swiss ancestry, who did experience night blindness and whose ERG showed a pattern typical for CSNB in general, was compound heterozygous for the 2-bp deletion and a missense mutation in CABP4 (R124C; 608965.0002). He was also hemizygous for an N735T missense mutation in the CACNA1F gene, as was his unaffected brother, and his mother was a heterozygous carrier of the variant. Zeitz et al. (2006) concluded that the CACNA1F variant was not itself disease-causing but might modify the phenotype. Zeitz et al. (2006) showed that these mutations reduced CABP4 transcript levels to 30 to 40% of those in controls. On the basis of haplotype reconstruction and the Swiss ancestry of both families, a common origin of the 2-bp deletion in all 3 apparently unrelated individuals was considered possible. </p><p>In a Dutch brother and sister with congenital nonprogressive cone-rod synaptic disorder mapping to chromosome 11q13.1-q13.5, Littink et al. (2009) sequenced the CABP4 gene and identified homozygosity for a nonsense mutation (R216X; 608965.0003). Their unaffected parents were heterozygous for the mutation, which was not found in 300 ethnically matched alleles. Sequence analysis of all coding exons of CABP4 in 85 additional Dutch patients with cone or cone-rod dystrophy did not reveal any mutations, suggesting that CABP4 mutations are not a major cause for those progressive retinal dystrophies. </p><p>In 4 Bedouin sibs with decreased visual acuity from infancy and extinguished or markedly reduced ERG responses mapping to chromosome 11q13, Aldahmesh et al. (2010) directly sequenced the CABP4 gene and identified homozygosity for a 1-bp insertion (608965.0004); their unaffected first-cousin parents and 1 unaffected brother were heterozygous carriers of the mutation. </p><p>In 7 patients from 3 consanguineous Saudi families with early-onset retinal dysfunction, Khan et al. (2013) identified homozygosity for the same 1-bp insertion that had been identified in 4 Bedouin sibs by Aldahmesh et al. (2010). Haplotype analysis confirmed a shared haplotype surrounding the mutation for all 4 families. Khan et al. (2013) noted that all reported patients with homozygous mutations in the CABP4 gene had congenital nystagmus, low vision that was considered stable, photophobia, no night blindness, a normal or near-normal fundus, and a typically hyperopic refraction. The authors stated that the best designation for the CABP4 phenotype is 'congenital cone-rod synaptic disorder.' </p><p>Among a cohort of 101 Dutch patients diagnosed with congenital stationary night blindness, Bijveld et al. (2013) analyzed 6 known CSNB-related genes and identified the R216X mutation in the CABP4 gene in 1 female patient. However, Bijveld et al. (2013) noted that this patient, as well as the previously reported Dutch sibs (Littink et al., 2009) who were also homozygous for R216X, exhibited a phenotype distinct from CSNB: their problems were almost exclusively cone-related, including relatively low visual acuity, hyperopia, severe nonspecific color vision defects, and photophobia, with a slightly elevated (1.0 log) dark adaptation threshold. </p>
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<strong>REFERENCES</strong>
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Aldahmesh, M. A., Al-Owain, M., Alqahtani, F., Hazzaa, S., Alkuraya, F. S.
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<strong>A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype.</strong>
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Molec. Vision 16: 207-212, 2010.
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[PubMed: 20157620]
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Bijveld, M. M. C., Florijn, R. J., Bergen, A. A. B., van den Born, L. I., Kamermans, M., Prick, L., Riemslag, F. C. C., van Schooneveld, M. J., Kappers, A. M. L., van Genderen, M. M.
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<strong>Genotype and phenotype of 101 Dutch patients with congenital stationary night blindness.</strong>
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Ophthalmology 120: 2072-2081, 2013.
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[PubMed: 23714322]
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[Full Text: https://doi.org/10.1016/j.ophtha.2013.03.002]
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Khan, A. O., Alrashed, M., Alkuraya, F. S.
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<strong>Clinical characterisation of the CABP4-related retinal phenotype.</strong>
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Brit. J. Ophthal. 97: 262-265, 2013.
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[PubMed: 23099293]
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[Full Text: https://doi.org/10.1136/bjophthalmol-2012-302186]
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Khan, A. O.
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<strong>CABP4 mutations do not cause congenital stationary night blindness. (Letter)</strong>
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Ophthalmology 121: e15, 2014. Note: Electronic Article.
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[PubMed: 24332535]
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[Full Text: https://doi.org/10.1016/j.ophtha.2013.11.005]
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Littink, K. W., van Genderen, M. M., Collin, R. W. J., Roosing, S., de Brouwer, A. P. M., Riemslag, F. C. C., Venselaar, H., Thiadens, A. A. H. J., Hoyng, C. B., Rohrschneider, K., den Hollander, A. I., Cremers, F. P. M., van den Born, L. I.
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<strong>A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.</strong>
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Invest. Ophthal. Vis. Sci. 50: 2344-2350, 2009.
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[PubMed: 19074807]
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[Full Text: https://doi.org/10.1167/iovs.08-2553]
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<p class="mim-text-font">
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Traboulsi, E. I.
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<strong>Childhood retinal dystrophies: what's in a name? (Editorial)</strong>
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Brit. J. Ophthal. 97: 247 only, 2013.
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[PubMed: 23242674]
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[Full Text: https://doi.org/10.1136/bjophthalmol-2012-302703]
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Zeitz, C., Kloeckener-Gruissem, B., Forster, U., Kohl, S., Magyar, I., Wissinger, B., Matyas, G., Borruat, F.-X., Schorderet, D. F., Zrenner, E., Munier, F. L., Berger, W.
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<strong>Mutations in CABP4, the gene encoding the Ca(2+)-binding protein 4, cause autosomal recessive night blindness.</strong>
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Am. J. Hum. Genet. 79: 657-667, 2006.
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[PubMed: 16960802]
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[Full Text: https://doi.org/10.1086/508067]
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Contributors:
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 5/21/2015<br>Marla J. F. O'Neill - updated : 3/24/2011
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alopez : 04/12/2024<br>carol : 01/30/2024<br>alopez : 07/29/2020<br>carol : 02/03/2016<br>carol : 5/22/2015<br>mcolton : 5/21/2015<br>terry : 3/24/2011<br>alopez : 9/25/2006<br>alopez : 9/25/2006
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