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<meta name="keywords" content="C1842073, bradyopsia, difficulty seeing moving objects, finding, perrs, prolonged electroretinal response suppression, 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="Prolonged electroretinal response suppression-1 (PERRS1), also referred to as bradyopsia-1, is an autosomal recessive childhood-onset retinopathy characterized by markedly delayed dark and light adaptation, mild photophobia, difficulty seeing moving objects, moderately reduced visual acuity, normal color vision, normal fundi, and reduced rod and cone responses with prolonged recovery on electrophysiologic assessment (summary by Michaelides et al., 2010). Genetic Heterogeneity of Prolonged Electroretinal Response Suppression PERRS2 (620344) is caused by mutation in the RGS9BP gene (607814), which encodes the binding partner of RGS9 that anchors it to the photoreceptor outer segment disc membrane." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=331206
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ConceptID=C1842073
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Bradyopsia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331206</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:">C1842073</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Prolonged electroretinal response suppression</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Bradyopsia (711163009); Prolonged electroretinal response suppression (711163009)</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>
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||
<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" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/388531">RGS9BP</a>, <a target="_blank" href="/gene/8787">RGS9</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0030511">HP:0030511</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012033" target="_blank">MONDO:0012033</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS608415" target="_blank">PS608415</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=75374">ORPHA75374</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>
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||
<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Prolonged electroretinal response suppression-1 (PERRS1), also referred to as bradyopsia-1, is an autosomal recessive childhood-onset retinopathy characterized by markedly delayed dark and light adaptation, mild photophobia, difficulty seeing moving objects, moderately reduced visual acuity, normal color vision, normal fundi, and reduced rod and cone responses with prolonged recovery on electrophysiologic assessment (summary by Michaelides et al., 2010). Genetic Heterogeneity of Prolonged Electroretinal Response Suppression PERRS2 (620344) is caused by mutation in the RGS9BP gene (607814), which encodes the binding partner of RGS9 that anchors it to the photoreceptor outer segment disc membrane. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Bradyopsia is a rare condition that affects vision. The term "bradyopsia" is from the Greek words for slow vision. In affected individuals, the eyes adapt more slowly than usual to changing light conditions. For example, people with this condition are blinded for several seconds when going from a dark environment into a bright one, such as when walking out of a darkened movie theater into daylight. Their eyes also have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day.<br /><br />Some people with bradyopsia also have difficulty seeing some moving objects, particularly small objects moving against a bright background. As a result, they often have trouble watching or participating in sports with a ball, such as soccer or tennis. People with bradyopsia can have reduced sharpness (acuity) of vision, although acuity may depend on the conditions under which vision is tested. Visual acuity may appear to be severely affected if it is tested under bright lights, but it can be near normal if tested in a dim environment. The ability to see colors and distinguish between them is normal.<br /><br />The vision problems associated with bradyopsia become apparent in early childhood. They are usually stable, which means they do not worsen over time. <a target="_blank" href="https://medlineplus.gov/genetics/condition/bradyopsia">https://medlineplus.gov/genetics/condition/bradyopsia</a></div></div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842073[DISCUI]&test_type=Clinical" ref="ncbi_uid=331206">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=331206" ref="ncbi_uid=331206">V</a></span></span><span class="TLline">Bradyopsia</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5829874[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1840510">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1840510" target="_blank" href="/omim/604067">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1840510" ref="ncbi_uid=1840510">V</a></span></span><span class="TLline"><a href="/medgen/1840510" ref="tree=GTR&ncbi_uid=1840510&link_uid=1840510" title="View MedGen record for 'Prolonged electroretinal response suppression 1'">Prolonged electroretinal response suppression 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5830452[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=1841088">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1841088" target="_blank" href="/omim/607814">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1841088" ref="ncbi_uid=1841088">V</a></span></span><span class="TLline"><a href="/medgen/1841088" ref="tree=GTR&ncbi_uid=1841088&link_uid=1841088" title="View MedGen record for 'Prolonged electroretinal response suppression 2'">Prolonged electroretinal response suppression 2</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/868525" ref="tree=MeSH" title="MedGen record for Abnormal eye physiology">Abnormal eye physiology</a></span><ul><li><span class="TLline"><a href="/medgen/871352" ref="tree=MeSH" title="MedGen record for Abnormality of vision">Abnormality of vision</a></span><ul><li><span class="matched_ds">Bradyopsia</span><ul><li><span class="TLline"><a href="/medgen/1840510" ref="tree=MeSH" title="MedGen record for Prolonged electroretinal response suppression 1">Prolonged electroretinal response suppression 1</a></span></li><li><span class="TLline"><a href="/medgen/1841088" ref="tree=MeSH" title="MedGen record for Prolonged electroretinal response suppression 2">Prolonged electroretinal response suppression 2</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=11074&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Bradyopsia</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_1840510"><div><strong>Prolonged electroretinal response suppression 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1840510</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.">C5829874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1840510">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841088"><div><strong>Prolonged electroretinal response suppression 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841088</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.">C5830452</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Prolonged electroretinal response suppression-2 (PERRS2), also referred to as bradyopsia-2, is an autosomal recessive childhood-onset retinopathy characterized by markedly delayed dark and light adaptation, mild photophobia, difficulty seeing moving objects, moderately reduced visual acuity, normal color vision, normal fundi, and reduced rod and cone responses with prolonged recovery on electrophysiologic assessment (summary by Michaelides et al., 2010). For a discussion of genetic heterogeneity of prolonged electroretinal response suppression (PERRS), see 608415.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841088">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1840510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged electroretinal response suppression 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841088" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prolonged electroretinal response suppression 2</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/39024658">THE GENETIC BASIS OF CLINICALLY SUSPECTED ACHROMATOPSIA IN THE UNITED ARAB EMIRATES.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan AO</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2024 Nov 1;44(11):2019-2025.
|
||
doi: 10.1097/IAE.0000000000004218.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39024658" target="_blank">39024658</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25770143">The cone dysfunction syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aboshiha J,
|
||
Dubis AM,
|
||
Carroll J,
|
||
Hardcastle AJ,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2016 Jan;100(1):115-21.
|
||
Epub 2015 Mar 13
|
||
doi: 10.1136/bjophthalmol-2014-306505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25770143" target="_blank">25770143</a><a href="/pmc/articles/PMC4717370" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26138751">Long-term follow-up of two patients with oligocone trichromacy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smirnov V,
|
||
Drumare I,
|
||
Bouacha I,
|
||
Puech B,
|
||
Defoort-Dhellemmes S</span><br />
|
||
<span class="medgenPMjournal">Doc Ophthalmol</span>
|
||
2015 Oct;131(2):149-58.
|
||
Epub 2015 Jul 3
|
||
doi: 10.1007/s10633-015-9508-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26138751" target="_blank">26138751</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19818506">Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michaelides M,
|
||
Li Z,
|
||
Rana NA,
|
||
Richardson EC,
|
||
Hykin PG,
|
||
Moore AT,
|
||
Holder GE,
|
||
Webster AR</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2010 Jan;117(1):120-127.e1.
|
||
Epub 2009 Oct 8
|
||
doi: 10.1016/j.ophtha.2009.06.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19818506" target="_blank">19818506</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17826834">Six patients with bradyopsia (slow vision): clinical features and course of the disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartong DT,
|
||
Pott JW,
|
||
Kooijman AC</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2007 Dec;114(12):2323-31.
|
||
Epub 2007 Sep 12
|
||
doi: 10.1016/j.ophtha.2007.04.057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17826834" target="_blank">17826834</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bradyopsia%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 (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31720979">Unique retinal signaling defect in GNB5-related disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shao Z,
|
||
Tumber A,
|
||
Maynes J,
|
||
Tavares E,
|
||
Kannu P,
|
||
Heon E,
|
||
Vincent A</span><br />
|
||
<span class="medgenPMjournal">Doc Ophthalmol</span>
|
||
2020 Jun;140(3):273-277.
|
||
Epub 2019 Nov 12
|
||
doi: 10.1007/s10633-019-09735-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31720979" target="_blank">31720979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29934801">ISCEV extended protocol for the dark-adapted red flash ERG.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thompson DA,
|
||
Fujinami K,
|
||
Perlman I,
|
||
Hamilton R,
|
||
Robson AG</span><br />
|
||
<span class="medgenPMjournal">Doc Ophthalmol</span>
|
||
2018 Jun;136(3):191-197.
|
||
Epub 2018 Jun 22
|
||
doi: 10.1007/s10633-018-9644-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29934801" target="_blank">29934801</a><a href="/pmc/articles/PMC6061112" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29107794">The clinical presentation of bradyopsia in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khan AO</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2017 Dec;21(6):507-509.e1.
|
||
Epub 2017 Oct 28
|
||
doi: 10.1016/j.jaapos.2017.07.212.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29107794" target="_blank">29107794</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25770143">The cone dysfunction syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aboshiha J,
|
||
Dubis AM,
|
||
Carroll J,
|
||
Hardcastle AJ,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2016 Jan;100(1):115-21.
|
||
Epub 2015 Mar 13
|
||
doi: 10.1136/bjophthalmol-2014-306505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25770143" target="_blank">25770143</a><a href="/pmc/articles/PMC4717370" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23263253">Pathognomonic (diagnostic) ERGs. A review and update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vincent A,
|
||
Robson AG,
|
||
Holder GE</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2013 Jan;33(1):5-12.
|
||
doi: 10.1097/IAE.0b013e31827e2306.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23263253" target="_blank">23263253</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bradyopsia%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26957898">Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oishi M,
|
||
Oishi A,
|
||
Gotoh N,
|
||
Ogino K,
|
||
Higasa K,
|
||
Iida K,
|
||
Makiyama Y,
|
||
Morooka S,
|
||
Matsuda F,
|
||
Yoshimura N</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
2016;22:150-60.
|
||
Epub 2016 Feb 20
|
||
<span class="bold">PMID: </span><a href="/pubmed/26957898" target="_blank">26957898</a><a href="/pmc/articles/PMC4764614" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26138751">Long-term follow-up of two patients with oligocone trichromacy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smirnov V,
|
||
Drumare I,
|
||
Bouacha I,
|
||
Puech B,
|
||
Defoort-Dhellemmes S</span><br />
|
||
<span class="medgenPMjournal">Doc Ophthalmol</span>
|
||
2015 Oct;131(2):149-58.
|
||
Epub 2015 Jul 3
|
||
doi: 10.1007/s10633-015-9508-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26138751" target="_blank">26138751</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17826834">Six patients with bradyopsia (slow vision): clinical features and course of the disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartong DT,
|
||
Pott JW,
|
||
Kooijman AC</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2007 Dec;114(12):2323-31.
|
||
Epub 2007 Sep 12
|
||
doi: 10.1016/j.ophtha.2007.04.057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17826834" target="_blank">17826834</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bradyopsia%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31720979">Unique retinal signaling defect in GNB5-related disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shao Z,
|
||
Tumber A,
|
||
Maynes J,
|
||
Tavares E,
|
||
Kannu P,
|
||
Heon E,
|
||
Vincent A</span><br />
|
||
<span class="medgenPMjournal">Doc Ophthalmol</span>
|
||
2020 Jun;140(3):273-277.
|
||
Epub 2019 Nov 12
|
||
doi: 10.1007/s10633-019-09735-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31720979" target="_blank">31720979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25770143">The cone dysfunction syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aboshiha J,
|
||
Dubis AM,
|
||
Carroll J,
|
||
Hardcastle AJ,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2016 Jan;100(1):115-21.
|
||
Epub 2015 Mar 13
|
||
doi: 10.1136/bjophthalmol-2014-306505.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25770143" target="_blank">25770143</a><a href="/pmc/articles/PMC4717370" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26343007">Retinal Architecture in RGS9- and R9AP-Associated Retinal Dysfunction (Bradyopsia).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strauss RW,
|
||
Dubis AM,
|
||
Cooper RF,
|
||
Ba-Abbad R,
|
||
Moore AT,
|
||
Webster AR,
|
||
Dubra A,
|
||
Carroll J,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2015 Dec;160(6):1269-1275.e1.
|
||
Epub 2015 Sep 3
|
||
doi: 10.1016/j.ajo.2015.08.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26343007" target="_blank">26343007</a><a href="/pmc/articles/PMC4653116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19818506">Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Michaelides M,
|
||
Li Z,
|
||
Rana NA,
|
||
Richardson EC,
|
||
Hykin PG,
|
||
Moore AT,
|
||
Holder GE,
|
||
Webster AR</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2010 Jan;117(1):120-127.e1.
|
||
Epub 2009 Oct 8
|
||
doi: 10.1016/j.ophtha.2009.06.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19818506" target="_blank">19818506</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17826834">Six patients with bradyopsia (slow vision): clinical features and course of the disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hartong DT,
|
||
Pott JW,
|
||
Kooijman AC</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2007 Dec;114(12):2323-31.
|
||
Epub 2007 Sep 12
|
||
doi: 10.1016/j.ophtha.2007.04.057.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17826834" target="_blank">17826834</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Bradyopsia%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 (6)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1842073%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
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