2148 lines
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Entry
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- #616517 - ACHROMATOPSIA 7; ACHM7
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- OMIM
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<p>
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<span class="h4">#616517</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/616517"><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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<li role="presentation" style="margin-left: 1em">
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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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=ACHROMATOPSIA" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=10639&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.ncbi.nlm.nih.gov/books/NBK1418/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=616517[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=49382" 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 class="small">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0110009" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/616517" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0110009" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 49382<br />
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<strong>DO:</strong> 0110009<br />
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">ICD+</a>
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</div>
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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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616517
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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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ACHROMATOPSIA 7; ACHM7
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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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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/1/1361?start=-3&limit=10&highlight=1361">
|
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1q23.3
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</a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Achromatopsia 7
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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/616517"> 616517 </a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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ATF6
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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/605537"> 605537 </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 class="btn-group ">
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<a href="/clinicalSynopsis/616517" 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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<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/616517" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/616517" 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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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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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 class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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</span>
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<div style="margin-left: 2em;">
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<span class="h5 mim-font">
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<em> Eyes </em>
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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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- Severe photophobia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750203&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750203</a>]</span> <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">[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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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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Decreased visual acuity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13164000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span><br /> -
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Absence of color discrimination <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228490&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228490</a>]</span><br /> -
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Central scotoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38950008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38950008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H53.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H53.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/368.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">368.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152191&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152191</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000603" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000603</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000603" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000603</a>]</span><br /> -
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Reduced or absent foveal reflex <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228489</a>]</span><br /> -
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Marked foveal hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228488&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228488</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007750</a>]</span><br /> -
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Absent foveal pit <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228487&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228487</a>]</span><br /> -
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Well-demarcated areas of macular atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228486&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228486</a>]</span><br /> -
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Normal scotopic (rod) responses on electroretinography (ERG) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228485</a>]</span><br /> -
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Severely reduced or absent photopic (cone) responses on ERG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228484</a>]</span><br /> -
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Reduced average cone density in the macular and paramacular area on adaptive optics scanning light ophthalmoscopy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228483</a>]</span><br />
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</span>
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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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- Symptoms present from infancy or early childhood<br /> -
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Nonprogressive in most patients<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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<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 activating transcription factor-6 gene (ATF6, <a href="/entry/605537#0001">605537.0001</a>)<br />
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</span>
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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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<br />
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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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<p>A number sign (#) is used with this entry because of evidence that achromatopsia-7 (ACHM7) is caused by homozygous or compound heterozygous mutation in the ATF6 gene (<a href="/entry/605537">605537</a>) on chromosome 1q23.</p>
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<br />
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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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</h4>
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<span class="mim-text-font">
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<p>Achromatopsia (ACHM) is an autosomal recessive disorder resulting from lack of cone photoreceptor function. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness (summary by <a href="#2" class="mim-tip-reference" title="Kohl, S., Zobor, D., Chiang, W.-C., Weisschuh, N., Staller, J., Gonzalez Menendez, I., Chang, S., Beck, S. C., Garcia Garrido, M., Sothilingam, V., Seeliger, M. W., Stanzial, F., and 21 others. <strong>Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.</strong> Nature Genet. 47: 757-765, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26029869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26029869</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26029869[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/10.1038/ng.3319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26029869">Kohl et al., 2015</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26029869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a general description and a discussion of genetic heterogeneity of achromatopsia, see ACHM2 (<a href="/entry/216900">216900</a>).</p>
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<br />
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Ansar, M., Santos-Cortez, R. L. P., Saqib, M. A. N., Zulfiqar, F., Lee, K., Ashraf, N. M., Ullah, E., Wang, X., Sajid, S., Khan, F. S., Amin-ud-Din, M., University of Washington Center for Mendelian Genomics, and 9 others. <strong>Mutation of ATF6 causes autosomal recessive achromatopsia.</strong> Hum. Genet. 134: 941-950, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26063662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26063662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26063662[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/10.1007/s00439-015-1571-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26063662">Ansar et al. (2015)</a> studied 2 sibs, their female cousin (the proband), and their nephew from a multiply consanguineous Pakistani family. All 4 affected individuals had had severe photophobia, nystagmus, and absence of color discrimination from early childhood. They had normal night vision, but in daylight they experienced extreme discomfort and exhibited extensive blinking. Visual acuity ranged from 20/100 to 20/250, and the Ishihara 24-color plate test revealed severe defects in all 4 affected individuals. Fundus examination of the proband at the age of 16 years was normal except for loss of foveal reflex. Full-field electroretinography (ffERG) in the proband was typical for achromatopsia: normal amplitude and latency of scotopic or rod response in dark-adapted phase at 30 Hz or lower, but subnormal rod response at 120 Hz; absent photopic flicker response with loss of regular sinusoidal waveforms; and normal latency but severely diminished amplitude of photopic or single-cone flash response. In addition, oscillatory potentials were demonstrated during scotopic responses at 30 Hz, which the authors suggested represented amacrine cell function during the rod response. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26063662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Kohl, S., Zobor, D., Chiang, W.-C., Weisschuh, N., Staller, J., Gonzalez Menendez, I., Chang, S., Beck, S. C., Garcia Garrido, M., Sothilingam, V., Seeliger, M. W., Stanzial, F., and 21 others. <strong>Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.</strong> Nature Genet. 47: 757-765, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26029869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26029869</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26029869[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/10.1038/ng.3319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26029869">Kohl et al. (2015)</a> studied 18 patients from 10 unrelated families with achromatopsia, 16 of whom had a clinical diagnosis of complete ACHM and 2 of incomplete ACHM. Nystagmus and photophobia were present in all patients from birth or early infancy, and all had very poor or absent color vision and markedly reduced visual acuity. Only 1 patient showed evidence of disease progression. Best corrected visual acuity was severely reduced, ranging from 20/63 to 20/200, and refractive error ranged from -9.5 to +6.0 diopters (spherical), with variable degrees of astigmatism. Patients who underwent visual field testing showed central scotomas. Funduscopy showed macular changes ranging from relatively normal areas to well-demarcated atrophic areas that did not appear to be related to age. Spectral-domain optical coherence tomography (SD-OCT) scans showed foveal hypoplasia with a missing foveal pit in all patients, as well as variable disruption of the inner segment ellipsoid layer (photoreceptor layer) at the fovea. Dark adaptation was evaluated in an affected Irish brother and sister, ages 19 and 16 years, who showed rod-mediated function lacking the rod-cone break and cone branch, with normal dark-adaptation thresholds. Their scotopic ffERG responses were within normal limits, consistent with normal rod function, whereas photopic ffERG responses were severely reduced or undetectable, consistent with absent or markedly reduced cone system function. Adaptive optics scanning light ophthalmoscopy (AOSLO) in the affected Irish sibs revealed an average cone density that was considerably lower than controls, and indicated that only cones in the macular and part of the paramacular area were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26029869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Ansar, M., Santos-Cortez, R. L. P., Saqib, M. A. N., Zulfiqar, F., Lee, K., Ashraf, N. M., Ullah, E., Wang, X., Sajid, S., Khan, F. S., Amin-ud-Din, M., University of Washington Center for Mendelian Genomics, and 9 others. <strong>Mutation of ATF6 causes autosomal recessive achromatopsia.</strong> Hum. Genet. 134: 941-950, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26063662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26063662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26063662[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/10.1007/s00439-015-1571-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26063662">Ansar et al. (2015)</a> performed genomewide homozygosity mapping in 11 members of a consanguineous Pakistani family with ACHM and identified a 15.12-Mb region of homozygosity on chromosome 1q23.1-q24.3. A maximum 2-point lod score of 3.1 (theta = 0) was obtained at <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs6700867;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs6700867</a> (chr1:162.21 Mb; GRCh37), and a statistically significant maximum multipoint lod score of 3.6 was obtained for markers between <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1538971;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1538971</a> (chr1:161.68 Mb) and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17350579;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs17350579</a> (chr1:172.07 Mb). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26063662" 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 nonconsanguineous family of Irish descent in which 3 sibs had ACHM, <a href="#2" class="mim-tip-reference" title="Kohl, S., Zobor, D., Chiang, W.-C., Weisschuh, N., Staller, J., Gonzalez Menendez, I., Chang, S., Beck, S. C., Garcia Garrido, M., Sothilingam, V., Seeliger, M. W., Stanzial, F., and 21 others. <strong>Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.</strong> Nature Genet. 47: 757-765, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26029869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26029869</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26029869[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/10.1038/ng.3319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26029869">Kohl et al. (2015)</a> performed haplotype analysis and homozygosity mapping and identified the largest region of homozygosity on chromosome 1p13.2-q23.3. The homozygous interval consisted of 624 consecutive SNPs spanning a 2.4-Mb region flanked by <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4656862;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4656862</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs164418;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs164418</a> (chr1:159,953,102-162,354,150, GRCh37). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26029869" 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 ACHM in the family reported by <a href="#1" class="mim-tip-reference" title="Ansar, M., Santos-Cortez, R. L. P., Saqib, M. A. N., Zulfiqar, F., Lee, K., Ashraf, N. M., Ullah, E., Wang, X., Sajid, S., Khan, F. S., Amin-ud-Din, M., University of Washington Center for Mendelian Genomics, and 9 others. <strong>Mutation of ATF6 causes autosomal recessive achromatopsia.</strong> Hum. Genet. 134: 941-950, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26063662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26063662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26063662[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/10.1007/s00439-015-1571-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26063662">Ansar et al. (2015)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26063662" 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 the proband from a consanguineous Pakistani family with ACHM mapping to chromosome 1q23.1-q24.3, <a href="#1" class="mim-tip-reference" title="Ansar, M., Santos-Cortez, R. L. P., Saqib, M. A. N., Zulfiqar, F., Lee, K., Ashraf, N. M., Ullah, E., Wang, X., Sajid, S., Khan, F. S., Amin-ud-Din, M., University of Washington Center for Mendelian Genomics, and 9 others. <strong>Mutation of ATF6 causes autosomal recessive achromatopsia.</strong> Hum. Genet. 134: 941-950, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26063662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26063662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26063662[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/10.1007/s00439-015-1571-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26063662">Ansar et al. (2015)</a> performed exome sequencing and identified a homozygous 1-bp duplication in the ATF6 gene (<a href="/entry/605537#0001">605537.0001</a>). The mutation, which segregated with disease in the family, was not found in 470 ethnically matched control chromosomes, in exome sequence data from 130 unrelated Pakistani controls without eye disease, or in the dbSNP or ExAC databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26063662" 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 1 of 3 affected sibs from a nonconsanguineous family of Irish descent with ACHM mapping to chromosome 1, <a href="#2" class="mim-tip-reference" title="Kohl, S., Zobor, D., Chiang, W.-C., Weisschuh, N., Staller, J., Gonzalez Menendez, I., Chang, S., Beck, S. C., Garcia Garrido, M., Sothilingam, V., Seeliger, M. W., Stanzial, F., and 21 others. <strong>Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.</strong> Nature Genet. 47: 757-765, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26029869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26029869</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26029869[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/10.1038/ng.3319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26029869">Kohl et al. (2015)</a> performed whole-exome sequencing and identified homozygosity for a missense mutation in the ATF6 gene (R324C; <a href="/entry/605537#0002">605537.0002</a>). The mutation segregated with disease in the family. Further whole-exome sequencing and candidate gene screening in 301 ACHM patients revealed 15 more individuals from 9 unrelated families with homozygous or compound heterozygous mutations in the ATF6 gene (see, e.g., <a href="/entry/605537#0003">605537.0003</a>-<a href="/entry/605537#0006">605537.0006</a>). All 18 mutation-positive patients exhibited marked foveal hypoplasia, including persistent inner retinal layers at the fovea and a poorly formed or absent foveal pit. Noting that the absence of foveal development is rare, <a href="#2" class="mim-tip-reference" title="Kohl, S., Zobor, D., Chiang, W.-C., Weisschuh, N., Staller, J., Gonzalez Menendez, I., Chang, S., Beck, S. C., Garcia Garrido, M., Sothilingam, V., Seeliger, M. W., Stanzial, F., and 21 others. <strong>Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.</strong> Nature Genet. 47: 757-765, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26029869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26029869</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26029869[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/10.1038/ng.3319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26029869">Kohl et al. (2015)</a> suggested that severe foveal hypoplasia with a poorly formed or absent foveal pit could be a hallmark of ATF6-related disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26029869" 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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Ansar, M., Santos-Cortez, R. L. P., Saqib, M. A. N., Zulfiqar, F., Lee, K., Ashraf, N. M., Ullah, E., Wang, X., Sajid, S., Khan, F. S., Amin-ud-Din, M., University of Washington Center for Mendelian Genomics, and 9 others.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26063662/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26063662</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26063662[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=26063662" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kohl, S., Zobor, D., Chiang, W.-C., Weisschuh, N., Staller, J., Gonzalez Menendez, I., Chang, S., Beck, S. C., Garcia Garrido, M., Sothilingam, V., Seeliger, M. W., Stanzial, F., and 21 others.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26029869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26029869</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26029869[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=26029869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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carol : 12/19/2022
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carol : 09/09/2016<br>carol : 03/22/2016<br>alopez : 3/18/2016<br>alopez : 8/13/2015<br>mcolton : 8/13/2015<br>mcolton : 8/12/2015
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<strong>#</strong> 616517
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ACHROMATOPSIA 7; ACHM7
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<strong>ORPHA:</strong> 49382;
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<strong>DO:</strong> 0110009;
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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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1q23.3
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Achromatopsia 7
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616517
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Autosomal recessive
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3
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ATF6
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605537
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<p>A number sign (#) is used with this entry because of evidence that achromatopsia-7 (ACHM7) is caused by homozygous or compound heterozygous mutation in the ATF6 gene (605537) on chromosome 1q23.</p>
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<p>Achromatopsia (ACHM) is an autosomal recessive disorder resulting from lack of cone photoreceptor function. Affected individuals present from birth or early infancy with photophobia, nystagmus, severely reduced visual acuity, and color blindness (summary by Kohl et al., 2015). </p><p>For a general description and a discussion of genetic heterogeneity of achromatopsia, see ACHM2 (216900).</p>
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<p>Ansar et al. (2015) studied 2 sibs, their female cousin (the proband), and their nephew from a multiply consanguineous Pakistani family. All 4 affected individuals had had severe photophobia, nystagmus, and absence of color discrimination from early childhood. They had normal night vision, but in daylight they experienced extreme discomfort and exhibited extensive blinking. Visual acuity ranged from 20/100 to 20/250, and the Ishihara 24-color plate test revealed severe defects in all 4 affected individuals. Fundus examination of the proband at the age of 16 years was normal except for loss of foveal reflex. Full-field electroretinography (ffERG) in the proband was typical for achromatopsia: normal amplitude and latency of scotopic or rod response in dark-adapted phase at 30 Hz or lower, but subnormal rod response at 120 Hz; absent photopic flicker response with loss of regular sinusoidal waveforms; and normal latency but severely diminished amplitude of photopic or single-cone flash response. In addition, oscillatory potentials were demonstrated during scotopic responses at 30 Hz, which the authors suggested represented amacrine cell function during the rod response. </p><p>Kohl et al. (2015) studied 18 patients from 10 unrelated families with achromatopsia, 16 of whom had a clinical diagnosis of complete ACHM and 2 of incomplete ACHM. Nystagmus and photophobia were present in all patients from birth or early infancy, and all had very poor or absent color vision and markedly reduced visual acuity. Only 1 patient showed evidence of disease progression. Best corrected visual acuity was severely reduced, ranging from 20/63 to 20/200, and refractive error ranged from -9.5 to +6.0 diopters (spherical), with variable degrees of astigmatism. Patients who underwent visual field testing showed central scotomas. Funduscopy showed macular changes ranging from relatively normal areas to well-demarcated atrophic areas that did not appear to be related to age. Spectral-domain optical coherence tomography (SD-OCT) scans showed foveal hypoplasia with a missing foveal pit in all patients, as well as variable disruption of the inner segment ellipsoid layer (photoreceptor layer) at the fovea. Dark adaptation was evaluated in an affected Irish brother and sister, ages 19 and 16 years, who showed rod-mediated function lacking the rod-cone break and cone branch, with normal dark-adaptation thresholds. Their scotopic ffERG responses were within normal limits, consistent with normal rod function, whereas photopic ffERG responses were severely reduced or undetectable, consistent with absent or markedly reduced cone system function. Adaptive optics scanning light ophthalmoscopy (AOSLO) in the affected Irish sibs revealed an average cone density that was considerably lower than controls, and indicated that only cones in the macular and part of the paramacular area were affected. </p>
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<strong>Mapping</strong>
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<p>Ansar et al. (2015) performed genomewide homozygosity mapping in 11 members of a consanguineous Pakistani family with ACHM and identified a 15.12-Mb region of homozygosity on chromosome 1q23.1-q24.3. A maximum 2-point lod score of 3.1 (theta = 0) was obtained at rs6700867 (chr1:162.21 Mb; GRCh37), and a statistically significant maximum multipoint lod score of 3.6 was obtained for markers between rs1538971 (chr1:161.68 Mb) and rs17350579 (chr1:172.07 Mb). </p><p>In a nonconsanguineous family of Irish descent in which 3 sibs had ACHM, Kohl et al. (2015) performed haplotype analysis and homozygosity mapping and identified the largest region of homozygosity on chromosome 1p13.2-q23.3. The homozygous interval consisted of 624 consecutive SNPs spanning a 2.4-Mb region flanked by rs4656862 and rs164418 (chr1:159,953,102-162,354,150, GRCh37). </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of ACHM in the family reported by Ansar et al. (2015) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In the proband from a consanguineous Pakistani family with ACHM mapping to chromosome 1q23.1-q24.3, Ansar et al. (2015) performed exome sequencing and identified a homozygous 1-bp duplication in the ATF6 gene (605537.0001). The mutation, which segregated with disease in the family, was not found in 470 ethnically matched control chromosomes, in exome sequence data from 130 unrelated Pakistani controls without eye disease, or in the dbSNP or ExAC databases. </p><p>In 1 of 3 affected sibs from a nonconsanguineous family of Irish descent with ACHM mapping to chromosome 1, Kohl et al. (2015) performed whole-exome sequencing and identified homozygosity for a missense mutation in the ATF6 gene (R324C; 605537.0002). The mutation segregated with disease in the family. Further whole-exome sequencing and candidate gene screening in 301 ACHM patients revealed 15 more individuals from 9 unrelated families with homozygous or compound heterozygous mutations in the ATF6 gene (see, e.g., 605537.0003-605537.0006). All 18 mutation-positive patients exhibited marked foveal hypoplasia, including persistent inner retinal layers at the fovea and a poorly formed or absent foveal pit. Noting that the absence of foveal development is rare, Kohl et al. (2015) suggested that severe foveal hypoplasia with a poorly formed or absent foveal pit could be a hallmark of ATF6-related disease. </p>
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<strong>REFERENCES</strong>
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Ansar, M., Santos-Cortez, R. L. P., Saqib, M. A. N., Zulfiqar, F., Lee, K., Ashraf, N. M., Ullah, E., Wang, X., Sajid, S., Khan, F. S., Amin-ud-Din, M., University of Washington Center for Mendelian Genomics, and 9 others.
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<strong>Mutation of ATF6 causes autosomal recessive achromatopsia.</strong>
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Hum. Genet. 134: 941-950, 2015.
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[PubMed: 26063662]
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[Full Text: https://doi.org/10.1007/s00439-015-1571-4]
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Kohl, S., Zobor, D., Chiang, W.-C., Weisschuh, N., Staller, J., Gonzalez Menendez, I., Chang, S., Beck, S. C., Garcia Garrido, M., Sothilingam, V., Seeliger, M. W., Stanzial, F., and 21 others.
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<strong>Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.</strong>
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Nature Genet. 47: 757-765, 2015.
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[PubMed: 26029869]
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[Full Text: https://doi.org/10.1038/ng.3319]
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Creation Date:
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<span class="mim-text-font">
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Marla J. F. O'Neill : 8/12/2015
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carol : 12/19/2022<br>carol : 09/09/2016<br>carol : 03/22/2016<br>alopez : 3/18/2016<br>alopez : 8/13/2015<br>mcolton : 8/13/2015<br>mcolton : 8/12/2015
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