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Entry
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- #611809 - BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB
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- OMIM
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<p>
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<span class="h4">#611809</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="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=BESTROPHINOPATHY, AUTOSOMAL RECESSIVE" 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=16900&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/NBK1167/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7813" 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://medlineplus.gov/genetics/gene/best1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611809[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=139455" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-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 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:0050662" 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/611809" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=001444,001553,001554" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050662" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<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>SNOMEDCT:</strong> 723828008<br />
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<strong>ORPHA:</strong> 139455<br />
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<strong>DO:</strong> 0050662<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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611809
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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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BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB
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</h3>
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</div>
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<div>
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<br />
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<a id="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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</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/11/467?start=-3&limit=10&highlight=467">
|
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11q12.3
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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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Bestrophinopathy, autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/611809"> 611809 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
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<span class="mim-font">
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BEST1
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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/607854"> 607854 </a>
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</span>
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</td>
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</table>
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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/611809" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/611809" 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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<p>A number sign (#) is used with this entry because autosomal recessive bestrophinopathy (ARB) is caused by homozygous or compound heterozygous mutation in the BEST1 gene (<a href="/entry/607854">607854</a>) on chromosome 11q12.</p>
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<p><a href="#1" class="mim-tip-reference" title="Burgess, R., Millar, I. D., Leroy, B. P., Urquhart, J. E., Fearon, I. M., De Baere, E., Brown, P. D., Robson, A. G., Wright, G. A., Kestelyn, P., Holder, G. E., Webster, A. R., Manson, F. D. C., Black, G. C. M. <strong>Biallelic mutation of BEST1 causes a distinct retinopathy in humans.</strong> Am. J. Hum. Genet. 82: 19-31, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18179881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18179881</a>] [<a href="https://doi.org/10.1016/j.ajhg.2007.08.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18179881">Burgess et al. (2008)</a> described a distinct retinal disorder they designated autosomal recessive bestrophinopathy (ARB). Characteristics of the disorder included central visual loss, a characteristic retinopathy, an absent electrooculogram (EOG) light rise, and a reduced electroretinogram (ERG). None of the patients showed the vitelliform lesions characteristic of Best disease (<a href="/entry/153700">153700</a>), but showed a diffuse irregularity of the reflex from the retinal pigment epithelium (RPE), including dispersed punctate flecks. All patients showed an accumulation of fluid within and/or beneath the neurosensory retina in the macula region. All patients were hyperopic, and 3 from 2 families also had angle-closure glaucoma. The severe reduction in the EOG light rise seen in all patients was similar to that seen both in Best disease and ADVIRC (<a href="/entry/193220">193220</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18179881" 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="Lee, C. S., Jun, I., Choi, S., Lee, J. H., Lee, M. G., Lee, S. C., Kim, E. K. <strong>A novel BEST1 mutation in autosomal recessive bestrophinopathy.</strong> Invest. Ophthal. Vis. Sci. 56: 8141-8150, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26720466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26720466</a>] [<a href="https://doi.org/10.1167/iovs.15-18168" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26720466">Lee et al. (2015)</a> described a brother and sister, aged 66 and 52 years, respectively, with molecularly confirmed ARB. Both presented with reduced visual acuity and bilateral symmetrical subretinal deposits of hyperautofluorescent materials in the posterior pole. Spectral-domain optical coherence tomography showed macular thinning with submacular fluid. The sister had a concomitant macular edema associated with branched retinal vein occlusion in the left eye, which responded well to intravitreal bevacizumab injections. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26720466" 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 ARB in the families reported by <a href="#1" class="mim-tip-reference" title="Burgess, R., Millar, I. D., Leroy, B. P., Urquhart, J. E., Fearon, I. M., De Baere, E., Brown, P. D., Robson, A. G., Wright, G. A., Kestelyn, P., Holder, G. E., Webster, A. R., Manson, F. D. C., Black, G. C. M. <strong>Biallelic mutation of BEST1 causes a distinct retinopathy in humans.</strong> Am. J. Hum. Genet. 82: 19-31, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18179881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18179881</a>] [<a href="https://doi.org/10.1016/j.ajhg.2007.08.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18179881">Burgess et al. (2008)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18179881" 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="Burgess, R., Millar, I. D., Leroy, B. P., Urquhart, J. E., Fearon, I. M., De Baere, E., Brown, P. D., Robson, A. G., Wright, G. A., Kestelyn, P., Holder, G. E., Webster, A. R., Manson, F. D. C., Black, G. C. M. <strong>Biallelic mutation of BEST1 causes a distinct retinopathy in humans.</strong> Am. J. Hum. Genet. 82: 19-31, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18179881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18179881</a>] [<a href="https://doi.org/10.1016/j.ajhg.2007.08.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18179881">Burgess et al. (2008)</a> sequenced the BEST1 gene (<a href="/entry/607854">607854</a>) in 5 families and identified DNA variants in each of 10 alleles (see, e.g., <a href="/entry/607854#0015">607854.0015</a>). No clinical or electrophysiologic abnormalities were found in heterozygotes. Two missense isoforms severely reduced chloride channel activity. However, unlike 2 other alleles previously associated with Best disease, cotransfection with wildtype bestrophin-1 did not impair the formation of active wildtype bestrophin-1 channels, consistent with the recessive nature of the condition. Thus, <a href="#1" class="mim-tip-reference" title="Burgess, R., Millar, I. D., Leroy, B. P., Urquhart, J. E., Fearon, I. M., De Baere, E., Brown, P. D., Robson, A. G., Wright, G. A., Kestelyn, P., Holder, G. E., Webster, A. R., Manson, F. D. C., Black, G. C. M. <strong>Biallelic mutation of BEST1 causes a distinct retinopathy in humans.</strong> Am. J. Hum. Genet. 82: 19-31, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18179881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18179881</a>] [<a href="https://doi.org/10.1016/j.ajhg.2007.08.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18179881">Burgess et al. (2008)</a> proposed that ARB is a null phenotype of bestrophin-1 in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18179881" 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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Burgess, R., Millar, I. D., Leroy, B. P., Urquhart, J. E., Fearon, I. M., De Baere, E., Brown, P. D., Robson, A. G., Wright, G. A., Kestelyn, P., Holder, G. E., Webster, A. R., Manson, F. D. C., Black, G. C. M.
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<strong>Biallelic mutation of BEST1 causes a distinct retinopathy in humans.</strong>
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Am. J. Hum. Genet. 82: 19-31, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18179881/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18179881</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18179881" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2007.08.004" target="_blank">Full Text</a>]
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Lee, C. S., Jun, I., Choi, S., Lee, J. H., Lee, M. G., Lee, S. C., Kim, E. K.
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<strong>A novel BEST1 mutation in autosomal recessive bestrophinopathy.</strong>
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Invest. Ophthal. Vis. Sci. 56: 8141-8150, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26720466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26720466</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26720466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1167/iovs.15-18168" target="_blank">Full Text</a>]
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Jane Kelly - updated : 08/31/2016
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Victor A. McKusick : 2/22/2008
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carol : 08/31/2016<br>carol : 08/18/2011<br>carol : 12/31/2008<br>alopez : 2/22/2008<br>alopez : 2/22/2008
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BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB
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<strong>SNOMEDCT:</strong> 723828008;
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<strong>ORPHA:</strong> 139455;
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11q12.3
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Bestrophinopathy, autosomal recessive
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BEST1
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607854
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<span class="mim-font">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because autosomal recessive bestrophinopathy (ARB) is caused by homozygous or compound heterozygous mutation in the BEST1 gene (607854) on chromosome 11q12.</p>
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<h4>
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<strong>Clinical Features</strong>
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<p>Burgess et al. (2008) described a distinct retinal disorder they designated autosomal recessive bestrophinopathy (ARB). Characteristics of the disorder included central visual loss, a characteristic retinopathy, an absent electrooculogram (EOG) light rise, and a reduced electroretinogram (ERG). None of the patients showed the vitelliform lesions characteristic of Best disease (153700), but showed a diffuse irregularity of the reflex from the retinal pigment epithelium (RPE), including dispersed punctate flecks. All patients showed an accumulation of fluid within and/or beneath the neurosensory retina in the macula region. All patients were hyperopic, and 3 from 2 families also had angle-closure glaucoma. The severe reduction in the EOG light rise seen in all patients was similar to that seen both in Best disease and ADVIRC (193220). </p><p>Lee et al. (2015) described a brother and sister, aged 66 and 52 years, respectively, with molecularly confirmed ARB. Both presented with reduced visual acuity and bilateral symmetrical subretinal deposits of hyperautofluorescent materials in the posterior pole. Spectral-domain optical coherence tomography showed macular thinning with submacular fluid. The sister had a concomitant macular edema associated with branched retinal vein occlusion in the left eye, which responded well to intravitreal bevacizumab injections. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of ARB in the families reported by Burgess et al. (2008) was consistent with autosomal recessive inheritance. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>Burgess et al. (2008) sequenced the BEST1 gene (607854) in 5 families and identified DNA variants in each of 10 alleles (see, e.g., 607854.0015). No clinical or electrophysiologic abnormalities were found in heterozygotes. Two missense isoforms severely reduced chloride channel activity. However, unlike 2 other alleles previously associated with Best disease, cotransfection with wildtype bestrophin-1 did not impair the formation of active wildtype bestrophin-1 channels, consistent with the recessive nature of the condition. Thus, Burgess et al. (2008) proposed that ARB is a null phenotype of bestrophin-1 in humans. </p>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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<p />
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<li>
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<p class="mim-text-font">
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Burgess, R., Millar, I. D., Leroy, B. P., Urquhart, J. E., Fearon, I. M., De Baere, E., Brown, P. D., Robson, A. G., Wright, G. A., Kestelyn, P., Holder, G. E., Webster, A. R., Manson, F. D. C., Black, G. C. M.
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<strong>Biallelic mutation of BEST1 causes a distinct retinopathy in humans.</strong>
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Am. J. Hum. Genet. 82: 19-31, 2008.
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[PubMed: 18179881]
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[Full Text: https://doi.org/10.1016/j.ajhg.2007.08.004]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lee, C. S., Jun, I., Choi, S., Lee, J. H., Lee, M. G., Lee, S. C., Kim, E. K.
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<strong>A novel BEST1 mutation in autosomal recessive bestrophinopathy.</strong>
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Invest. Ophthal. Vis. Sci. 56: 8141-8150, 2015.
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[PubMed: 26720466]
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[Full Text: https://doi.org/10.1167/iovs.15-18168]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Jane Kelly - updated : 08/31/2016
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 2/22/2008
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alopez : 06/18/2024<br>carol : 08/31/2016<br>carol : 08/18/2011<br>carol : 12/31/2008<br>alopez : 2/22/2008<br>alopez : 2/22/2008
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