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<meta name="keywords" content="C3888198, arb, autosomal recessive bestrophinopathy, best1, bestrophinopathy, bestrophinopathy, autosomal recessive, disease or syndrome, retinopathy burgess black type, retinopathy, burgess-black type, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Bestrophinopathies, the spectrum of ophthalmic disorders caused by pathogenic variants in BEST1, are typically characterized by retinal degeneration. The four recognized phenotypes are the three autosomal dominant disorders: Best vitelliform macular dystrophy (BVMD), BEST1 adult-onset vitelliform macular dystrophy (AVMD), and autosomal dominant vitreoretinochoroidopathy (ADVIRC); and autosomal recessive bestrophinopathy (ARB). Onset is usually in the first decade (except AVMD in which onset is age 30 to 50 years). Slow visual deterioration is the usual course. Choroidal neovascularization can occur in rare cases. ADVIRC is also associated with panophthalmic involvement including nanophthalmos, microcornea, hyperopia, and narrow anterior chamber angle with angle closure glaucoma." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=854806
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ConceptID=C3888198
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-->
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<!--imgCountBooks = 5--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (5)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1167/bin/bvd-Image002.gif" src-large="/books/NBK1167/bin/bvd-Image002.jpg" /></a><br /><a href="/books/NBK1167/figure/bvd.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1167/bin/bvd-Image001.gif" src-large="/books/NBK1167/bin/bvd-Image001.jpg" /></a><br /><a href="/books/NBK1167/figure/bvd.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1167/bin/bvd-Image003.gif" src-large="/books/NBK1167/bin/bvd-Image003.jpg" /></a><br /><a href="/books/NBK1167/figure/bvd.F3/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1167/bin/bvd-Image005.gif" src-large="/books/NBK1167/bin/bvd-Image005.jpg" /></a><br /><a href="/books/NBK1167/figure/bvd.F5/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1167/bin/bvd-Image004.gif" src-large="/books/NBK1167/bin/bvd-Image004.jpg" /></a><br /><a href="/books/NBK1167/figure/bvd.F4/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Autosomal recessive bestrophinopathy<span class="h1sub">(ARB)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854806</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3888198</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>ARB; BESTROPHINOPATHY, AUTOSOMAL RECESSIVE</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Retinopathy Burgess Black type (723828008); Autosomal recessive bestrophinopathy (723828008)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="BEST1 - ID: 7439 - NCBI Gene" href="/gene/7439" class="medgenPMinfo">BEST1</a> (11q12.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012733" target="_blank">MONDO:0012733</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/611809" target="_blank">611809</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139455">ORPHA139455</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1167" target="_blank">Bestrophinopathies</a></div><div>Bestrophinopathies, the spectrum of ophthalmic disorders caused by pathogenic variants in BEST1, are typically characterized by retinal degeneration. The four recognized phenotypes are the three autosomal dominant disorders: Best vitelliform macular dystrophy (BVMD), BEST1 adult-onset vitelliform macular dystrophy (AVMD), and autosomal dominant vitreoretinochoroidopathy (ADVIRC); and autosomal recessive bestrophinopathy (ARB). Onset is usually in the first decade (except AVMD in which onset is age 30 to 50 years). Slow visual deterioration is the usual course. Choroidal neovascularization can occur in rare cases. ADVIRC is also associated with panophthalmic involvement including nanophthalmos, microcornea, hyperopia, and narrow anterior chamber angle with angle closure glaucoma. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1167#bvd.Summary" target="NBK1167">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1167#bvd.GeneReview_Scope" target="NBK1167">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1167#bvd.Diagnosis" target="NBK1167">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1167#bvd.Clinical_Characteristics" target="NBK1167">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1167#bvd.Genetically_Related_Allelic_Disorder" target="NBK1167">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1167#bvd.Differential_Diagnosis" target="NBK1167">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1167#bvd.Management" target="NBK1167">Management</a> | <a class="medgenPMinfo" href="/books/NBK1167#bvd.Genetic_Counseling" target="NBK1167">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1167#bvd.Resources" target="NBK1167">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1167#bvd.Molecular_Genetics" target="NBK1167">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1167#bvd.Chapter_Notes" target="NBK1167">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1167#bvd.References" target="NBK1167">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Ian M MacDonald | Thomas Lee | Jessica Lawrence <a href="/books/NBK1167" target="NBK1167" title="NCBI Bookshelf: Bestrophinopathies">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_43780"><div><strong>Hypermetropia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43780</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020490</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43780">Feature record</a> | <a href="/medgen?term=%22Hypermetropia%22%5BClinical%20Features%5D%20OR%2043780%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65889"><div><strong>Reduced visual acuity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65889</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0234632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished clarity of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65889">Feature record</a> | <a href="/medgen?term=%22Reduced%20visual%20acuity%22%5BClinical%20Features%5D%20OR%2065889%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_602327"><div><strong>Retinal flecks</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>602327</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0423414</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/602327">Feature record</a> | <a href="/medgen?term=%22Retinal%20flecks%22%5BClinical%20Features%5D%20OR%20602327%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_326793"><div><strong>Decreased light- and dark-adapted electroretinogram amplitude</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326793</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1839025</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Decreased amplitude of eletrical response upon electroretinography.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/326793">Feature record</a> | <a href="/medgen?term=%22Decreased%20light-%20and%20dark-adapted%20electroretinogram%20amplitude%22%5BClinical%20Features%5D%20OR%20326793%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_333564"><div><strong>Retinal pigment epithelial atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>333564</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1840457</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/333564">Feature record</a> | <a href="/medgen?term=%22Retinal%20pigment%20epithelial%20atrophy%22%5BClinical%20Features%5D%20OR%20333564%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_326793" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased light- and dark-adapted electroretinogram amplitude</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43780" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypermetropia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced visual acuity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_602327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal flecks</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_333564" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal pigment epithelial atrophy</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34327816">Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nowomiejska K,
|
||
Nasser F,
|
||
Stingl K,
|
||
Schimpf-Linzenbold S,
|
||
Biskup S,
|
||
Brzozowska A,
|
||
Rejdak R,
|
||
Kohl S,
|
||
Zrenner E</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2022 May;100(3):e847-e858.
|
||
Epub 2021 Jul 29
|
||
doi: 10.1111/aos.14958.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34327816" target="_blank">34327816</a><a href="/pmc/articles/PMC9328113" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23290749">Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boon CJ,
|
||
van den Born LI,
|
||
Visser L,
|
||
Keunen JE,
|
||
Bergen AA,
|
||
Booij JC,
|
||
Riemslag FC,
|
||
Florijn RJ,
|
||
van Schooneveld MJ</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2013 Apr;120(4):809-20.
|
||
Epub 2013 Jan 3
|
||
doi: 10.1016/j.ophtha.2012.09.057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23290749" target="_blank">23290749</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22autosomal%20recessive%20bestrophinopathy%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (2)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22234150">Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ramsden SC,
|
||
Davidson AE,
|
||
Leroy BP,
|
||
Moore AT,
|
||
Webster AR,
|
||
Black GC,
|
||
Manson FD</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 May;20(5)
|
||
Epub 2012 Jan 11
|
||
doi: 10.1038/ejhg.2011.251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22234150" target="_blank">22234150</a><a href="/pmc/articles/PMC3330226" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39048936">Clinical and genetic features in autosomal recessive bestrophinopathy in Chinese cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao D,
|
||
Gu VY,
|
||
Wang Y,
|
||
Peng J,
|
||
Lyu J,
|
||
Fei P,
|
||
Xu Y,
|
||
Zhang X,
|
||
Zhao P</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2024 Jul 24;24(1):308.
|
||
doi: 10.1186/s12886-024-03574-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39048936" target="_blank">39048936</a><a href="/pmc/articles/PMC11267682" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37544613">Macular neovascularization in inherited retinal diseases: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heath Jeffery RC,
|
||
Chen FK</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2024 Jan-Feb;69(1):1-23.
|
||
Epub 2023 Aug 6
|
||
doi: 10.1016/j.survophthal.2023.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37544613" target="_blank">37544613</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33039401">Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Casalino G,
|
||
Khan KN,
|
||
Armengol M,
|
||
Wright G,
|
||
Pontikos N,
|
||
Georgiou M,
|
||
Webster AR,
|
||
Robson AG,
|
||
Grewal PS,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2021 May;128(5):706-718.
|
||
Epub 2020 Oct 8
|
||
doi: 10.1016/j.ophtha.2020.10.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33039401" target="_blank">33039401</a><a href="/pmc/articles/PMC8062850" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32147488">Peripapillary Sparing in Autosomal Recessive Bestrophinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
|
||
Gliem M,
|
||
Herrmann P,
|
||
MacLaren RE,
|
||
Bolz HJ,
|
||
Charbel Issa P</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2020 May;4(5):523-529.
|
||
Epub 2020 Mar 5
|
||
doi: 10.1016/j.oret.2019.12.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32147488" target="_blank">32147488</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31789649">Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Witsberger E,
|
||
Marmorstein A,
|
||
Pulido J</span><br />
|
||
<span class="medgenPMjournal">Asia Pac J Ophthalmol (Phila)</span>
|
||
2019 Nov-Dec;8(6):469-475.
|
||
doi: 10.1097/APO.0000000000000261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31789649" target="_blank">31789649</a><a href="/pmc/articles/PMC6903339" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20bestrophinopathy%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (30)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37544613">Macular neovascularization in inherited retinal diseases: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heath Jeffery RC,
|
||
Chen FK</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2024 Jan-Feb;69(1):1-23.
|
||
Epub 2023 Aug 6
|
||
doi: 10.1016/j.survophthal.2023.07.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37544613" target="_blank">37544613</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36062537">Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hemptinne C,
|
||
Willermain F,
|
||
de Jong C,
|
||
Postolache L,
|
||
Postelmans L</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2023 Jun;44(3):318-320.
|
||
Epub 2022 Sep 4
|
||
doi: 10.1080/13816810.2022.2116649.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36062537" target="_blank">36062537</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33678430">Macular Hole-Associated Retinal Detachment in Autosomal Recessive Bestrophinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Surve A,
|
||
Pradeep P,
|
||
Kumar V</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2021 Mar;5(3):278.
|
||
doi: 10.1016/j.oret.2020.12.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33678430" target="_blank">33678430</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32461465">Autosomal recessive bestrophinopathy with macular hole.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hirawat RS,
|
||
Nagesha CK,
|
||
Divakar MM</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2020 Jun;68(6):1173-1175.
|
||
doi: 10.4103/ijo.IJO_1346_19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32461465" target="_blank">32461465</a><a href="/pmc/articles/PMC7508061" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21825197">Childhood-onset autosomal recessive bestrophinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Borman AD,
|
||
Davidson AE,
|
||
O'Sullivan J,
|
||
Thompson DA,
|
||
Robson AG,
|
||
De Baere E,
|
||
Black GC,
|
||
Webster AR,
|
||
Holder GE,
|
||
Leroy BP,
|
||
Manson FD,
|
||
Moore AT</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
2011 Aug;129(8):1088-93.
|
||
doi: 10.1001/archophthalmol.2011.197.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21825197" target="_blank">21825197</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20bestrophinopathy%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (62)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39403020">Subthreshold micropulse laser treatment for autosomal recessive bestrophinopathy complicated by macular neovascularization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buonamassa R,
|
||
Palumbo F,
|
||
Boscia G,
|
||
Scotti G,
|
||
Ferrara A,
|
||
De Vitis F,
|
||
Pignataro M,
|
||
Termite AC,
|
||
Landini L,
|
||
Alessio G,
|
||
Boscia F,
|
||
Viggiano P</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2025 Jan;35(1):NP50-NP53.
|
||
Epub 2024 Oct 15
|
||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/39403020" target="_blank">39403020</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36450205">Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cideciyan AV,
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Jacobson SG,
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Sumaroka A,
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Swider M,
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Krishnan AK,
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Sheplock R,
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Garafalo AV,
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Guziewicz KE,
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Aguirre GD,
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|
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|
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<div class="nl"><a target="_blank" href="/pubmed/33039401">Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Casalino G,
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Khan KN,
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Armengol M,
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Wright G,
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Georgiou M,
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Webster AR,
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<div class="nl"><a target="_blank" href="/pubmed/25265375">Use of Intravitreal Bevacizumab in a 9-Year-Old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hussain RN,
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Shahid FL,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20bestrophinopathy%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (7)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/39048936">Clinical and genetic features in autosomal recessive bestrophinopathy in Chinese cohort.</a></div>
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Gu VY,
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Wang Y,
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Peng J,
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Lyu J,
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<div class="nl"><a target="_blank" href="/pubmed/37544613">Macular neovascularization in inherited retinal diseases: A review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Heath Jeffery RC,
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Chen FK</span><br />
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2024 Jan-Feb;69(1):1-23.
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<span class="bold">PMID: </span><a href="/pubmed/37544613" target="_blank">37544613</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33039401">Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Casalino G,
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Khan KN,
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Armengol M,
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Wright G,
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Pontikos N,
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Georgiou M,
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Webster AR,
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Robson AG,
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Grewal PS,
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Michaelides M</span><br />
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<span class="medgenPMjournal">Ophthalmology</span>
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2021 May;128(5):706-718.
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Epub 2020 Oct 8
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doi: 10.1016/j.ophtha.2020.10.006.
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<span class="bold">PMID: </span><a href="/pubmed/33039401" target="_blank">33039401</a><a href="/pmc/articles/PMC8062850" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/30457648">Clinical Course of Autosomal Recessive Bestrophinopathy Complicated by Choroidal Neovascularization.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Introini U,
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Casalino G,
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Khan KN,
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Eandi C,
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<span class="bold">PMID: </span><a href="/pubmed/30457648" target="_blank">30457648</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25265375">Use of Intravitreal Bevacizumab in a 9-Year-Old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Hussain RN,
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Shahid FL,
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Empeslidis T,
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Ch'ng SW</span><br />
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<span class="medgenPMjournal">Ophthalmic Genet</span>
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2015;36(3):265-9.
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doi: 10.3109/13816810.2014.962706.
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<span class="bold">PMID: </span><a href="/pubmed/25265375" target="_blank">25265375</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20bestrophinopathy%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (16)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38518704">Multimodal imaging and genetic characteristics of autosomal recessive bestrophinopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tekin K,
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Dulger SC,
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Horozoglu Ceran T,
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Inanc M,
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Ozdal PC,
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|
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<span class="bold">PMID: </span><a href="/pubmed/38518704" target="_blank">38518704</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/35973442">Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
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Jiang Y,
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Li X,
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Xiao X,
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Li S,
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Sun W,
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Wang P,
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<span class="medgenPMjournal">Exp Eye Res</span>
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2022 Oct;223:109217.
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doi: 10.1016/j.exer.2022.109217.
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<span class="bold">PMID: </span><a href="/pubmed/35973442" target="_blank">35973442</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/34751623">Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chowdhury S,
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Duvesh R,
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Kumaran M,
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Anjanamurthy R,
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Kumar J,
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Vanniarajan A,
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Devarajan B,
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<span class="bold">PMID: </span><a href="/pubmed/34751623" target="_blank">34751623</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/33302512">Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.</a></div>
|
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2020 Dec 8;21(24)
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31789649">Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Witsberger E,
|
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Marmorstein A,
|
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Pulido J</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/31789649" target="_blank">31789649</a><a href="/pmc/articles/PMC6903339" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Autosomal%20recessive%20bestrophinopathy%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (27)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3888198%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (25)</a></li>
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<li><a href="/gtr/tests?term=C3888198%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
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<li><a href="/gtr/tests?term=C3888198%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (27)</a></li>
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<li><a href="/gtr/tests?term=C3888198%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (9)</a></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Bestrophinopathy%2C+autosomal+recessive/7813" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/bestrophinopathy_autosomal_recessive" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Autosomal%20recessive%20bestrophinopathy" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10301/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc2d9084f3725e594fcadf">Autosomal recessive bestrophinopathy</a>
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