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<meta name="keywords" content="C4310680, disease or syndrome, rcbtb1, rcbtb1-related retinopathy, rdeoa, retinal dystrophy with or without extraocular anomalies, 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="An autosomal recessive condition caused by mutation(s) in the RCBTB1 gene, encoding RCC1 and BTB domain-containing protein 1. It is characterized by severe retinal dystrophy. Associated extraocular abnormalities may or may not be present." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>RCBTB1-related retinopathy (Concept Id: C4310680)
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|
||
<!--
|
||
UID=934647
|
||
ConceptID=C4310680
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">RCBTB1-related retinopathy<span class="h1sub">(RDEOA)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934647</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:">C4310680</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Retinal dystrophy with or without extraocular anomalies</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="RCBTB1 - ID: 55213 - NCBI Gene" href="/gene/55213" class="medgenPMinfo">RCBTB1</a> (13q14.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014955" target="_blank">MONDO:0014955</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617175" target="_blank">617175</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_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">An autosomal recessive condition caused by mutation(s) in the RCBTB1 gene, encoding RCC1 and BTB domain-containing protein 1. It is characterized by severe retinal dystrophy. Associated extraocular abnormalities may or may not be present. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
|
||
</div>
|
||
|
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<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_9963"><div><strong>Premature ovarian insufficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9963</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.">C0025322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9963">Feature record</a> | <a href="/medgen?term=%22Premature%20ovarian%20insufficiency%22%5BClinical%20Features%5D%20OR%209963%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115919"><div><strong>Secondary amenorrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115919</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.">C0232940</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The cessation of menstruation for six months or more in a female that is not pregnant, breastfeeding or menopausal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115919">Feature record</a> | <a href="/medgen?term=%22Secondary%20amenorrhea%22%5BClinical%20Features%5D%20OR%20115919%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10044"><div><strong>Intellectual disability, mild</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10044</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.">C0026106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10044">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%2C%20mild%22%5BClinical%20Features%5D%20OR%2010044%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_11028"><div><strong>Pulmonary fibrosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11028</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.">C0034069</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Replacement of normal lung tissues by fibroblasts and collagen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/11028">Feature record</a> | <a href="/medgen?term=%22Pulmonary%20fibrosis%22%5BClinical%20Features%5D%20OR%2011028%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_42270"><div><strong>Goiter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>42270</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.">C0018021</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An enlargement of the thyroid gland.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/42270">Feature record</a> | <a href="/medgen?term=%22Goiter%22%5BClinical%20Features%5D%20OR%2042270%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_208903"><div><strong>Retinal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208903</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.">C0854723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208903">Feature record</a> | <a href="/medgen?term=%22Retinal%20dystrophy%22%5BClinical%20Features%5D%20OR%20208903%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the endocrine system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_42270" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Goiter</a></span></li></ul></li><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_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_208903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal dystrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_9963" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Premature ovarian insufficiency</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115919" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Secondary amenorrhea</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10044" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability, mild</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11028" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pulmonary fibrosis</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<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></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=C4310680[DISCUI]&test_type=Clinical" ref="ncbi_uid=934647">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934647" target="_blank" href="/omim/607867">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=934647" ref="ncbi_uid=934647">V</a></span></span><span class="TLline">RCBTB1-related retinopathy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/868526" ref="tree=MeSH" title="MedGen record for Abnormal eye morphology">Abnormal eye morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870893" ref="tree=MeSH" title="MedGen record for Abnormal posterior eye segment morphology">Abnormal posterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/871316" ref="tree=MeSH" title="MedGen record for Abnormal fundus morphology">Abnormal fundus morphology</a></span><ul><li><span class="TLline"><a href="/medgen/472885" ref="tree=MeSH" title="MedGen record for Abnormal retinal morphology">Abnormal retinal morphology</a></span><ul><li><span class="TLline"><a href="/medgen/208903" ref="tree=MeSH" title="MedGen record for Retinal dystrophy">Retinal dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/57825" ref="tree=MeSH" title="MedGen record for Hereditary retinal dystrophy">Hereditary retinal dystrophy</a></span><ul><li><span class="matched_ds">RCBTB1-related retinopathy</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></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/38301969">Central serous chorioretinopathy: An evidence-based treatment guideline.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Feenstra HMA,
|
||
van Dijk EHC,
|
||
Cheung CMG,
|
||
Ohno-Matsui K,
|
||
Lai TYY,
|
||
Koizumi H,
|
||
Larsen M,
|
||
Querques G,
|
||
Downes SM,
|
||
Yzer S,
|
||
Breazzano MP,
|
||
Subhi Y,
|
||
Tadayoni R,
|
||
Priglinger SG,
|
||
Pauleikhoff LJB,
|
||
Lange CAK,
|
||
Loewenstein A,
|
||
Diederen RMH,
|
||
Schlingemann RO,
|
||
Hoyng CB,
|
||
Chhablani JK,
|
||
Holz FG,
|
||
Sivaprasad S,
|
||
Lotery AJ,
|
||
Yannuzzi LA,
|
||
Freund KB,
|
||
Boon CJF</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2024 Jul;101:101236.
|
||
Epub 2024 Feb 1
|
||
doi: 10.1016/j.preteyeres.2024.101236.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38301969" target="_blank">38301969</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35963508">American Association of Clinical Endocrinology Clinical Practice Guideline: Developing a Diabetes Mellitus Comprehensive Care Plan-2022 Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blonde L,
|
||
Umpierrez GE,
|
||
Reddy SS,
|
||
McGill JB,
|
||
Berga SL,
|
||
Bush M,
|
||
Chandrasekaran S,
|
||
DeFronzo RA,
|
||
Einhorn D,
|
||
Galindo RJ,
|
||
Gardner TW,
|
||
Garg R,
|
||
Garvey WT,
|
||
Hirsch IB,
|
||
Hurley DL,
|
||
Izuora K,
|
||
Kosiborod M,
|
||
Olson D,
|
||
Patel SB,
|
||
Pop-Busui R,
|
||
Sadhu AR,
|
||
Samson SL,
|
||
Stec C,
|
||
Tamborlane WV Jr,
|
||
Tuttle KR,
|
||
Twining C,
|
||
Vella A,
|
||
Vellanki P,
|
||
Weber SL</span><br />
|
||
<span class="medgenPMjournal">Endocr Pract</span>
|
||
2022 Oct;28(10):923-1049.
|
||
Epub 2022 Aug 11
|
||
doi: 10.1016/j.eprac.2022.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35963508" target="_blank">35963508</a><a href="/pmc/articles/PMC10200071" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30461693">ACOG Practice Bulletin No. 201: Pregestational Diabetes Mellitus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">American College of Obstetricians and Gynecologists' Committee on Practice Bulletins—Obstetrics</span><br />
|
||
<span class="medgenPMjournal">Obstet Gynecol</span>
|
||
2018 Dec;132(6):e228-e248.
|
||
doi: 10.1097/AOG.0000000000002960.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30461693" target="_blank">30461693</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(rcbtb1-related%20retinopathy)%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 (7779)</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/37482306">Tamoxifen retinopathy: A comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tenney S,
|
||
Oboh-Weilke A,
|
||
Wagner D,
|
||
Chen MY</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2024 Jan-Feb;69(1):42-50.
|
||
Epub 2023 Jul 22
|
||
doi: 10.1016/j.survophthal.2023.07.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37482306" target="_blank">37482306</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32823399">An update on autoimmune retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dutta Majumder P,
|
||
Marchese A,
|
||
Pichi F,
|
||
Garg I,
|
||
Agarwal A</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2020 Sep;68(9):1829-1837.
|
||
doi: 10.4103/ijo.IJO_786_20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32823399" target="_blank">32823399</a><a href="/pmc/articles/PMC7690499" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30578520">Autoimmune Retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsang SH,
|
||
Sharma T</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2018;1085:223-226.
|
||
doi: 10.1007/978-3-319-95046-4_47.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30578520" target="_blank">30578520</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29784239">Paraneoplastic syndromes in ophthalmology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bussat A,
|
||
Langner-Lemercier S,
|
||
Salmon A,
|
||
Mouriaux F</span><br />
|
||
<span class="medgenPMjournal">J Fr Ophtalmol</span>
|
||
2018 May;41(5):e181-e185.
|
||
Epub 2018 May 18
|
||
doi: 10.1016/j.jfo.2018.03.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29784239" target="_blank">29784239</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28282061">Hydroxychloroquine retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yusuf IH,
|
||
Sharma S,
|
||
Luqmani R,
|
||
Downes SM</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2017 Jun;31(6):828-845.
|
||
Epub 2017 Mar 10
|
||
doi: 10.1038/eye.2016.298.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28282061" target="_blank">28282061</a><a href="/pmc/articles/PMC5518824" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22RCBTB1-related%20retinopathy%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 (61626)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37482306">Tamoxifen retinopathy: A comprehensive review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tenney S,
|
||
Oboh-Weilke A,
|
||
Wagner D,
|
||
Chen MY</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2024 Jan-Feb;69(1):42-50.
|
||
Epub 2023 Jul 22
|
||
doi: 10.1016/j.survophthal.2023.07.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37482306" target="_blank">37482306</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37481452">Decompression retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferro Desideri L,
|
||
Anguita R</span><br />
|
||
<span class="medgenPMjournal">J Fr Ophtalmol</span>
|
||
2023 Nov;46(9):1127-1128.
|
||
Epub 2023 Jul 20
|
||
doi: 10.1016/j.jfo.2023.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37481452" target="_blank">37481452</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36847634">Avascular Peripheral Retina in Infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Özdek Ş,
|
||
Özdemir Zeydanlı E,
|
||
Baumal C,
|
||
Hoyek S,
|
||
Patel N,
|
||
Berrocal A,
|
||
Lopez-Cañizares A,
|
||
Al-Khersan H,
|
||
Kusaka S,
|
||
Mano F,
|
||
Jalali S,
|
||
Lepore D,
|
||
Akar S</span><br />
|
||
<span class="medgenPMjournal">Turk J Ophthalmol</span>
|
||
2023 Feb 24;53(1):44-57.
|
||
doi: 10.4274/tjo.galenos.2022.76436.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36847634" target="_blank">36847634</a><a href="/pmc/articles/PMC9973209" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32823399">An update on autoimmune retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dutta Majumder P,
|
||
Marchese A,
|
||
Pichi F,
|
||
Garg I,
|
||
Agarwal A</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2020 Sep;68(9):1829-1837.
|
||
doi: 10.4103/ijo.IJO_786_20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32823399" target="_blank">32823399</a><a href="/pmc/articles/PMC7690499" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29727117">Solar retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Berus T,
|
||
Turno-Krecicka A,
|
||
Kwiatkowska E</span><br />
|
||
<span class="medgenPMjournal">Klin Oczna</span>
|
||
2016 Sep;117(4):271-274.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29727117" target="_blank">29727117</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22RCBTB1-related%20retinopathy%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 (58403)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37865909">Severe Tamoxifen Retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kumari S,
|
||
Virani B,
|
||
Chawla R</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2023 Dec;7(12):1130.
|
||
Epub 2023 Oct 20
|
||
doi: 10.1016/j.oret.2023.09.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37865909" target="_blank">37865909</a></div>
|
||
|
||
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22RCBTB1-related%20retinopathy%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 (31565)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/33940045">Global Prevalence of Diabetic Retinopathy and Projection of Burden through 2045: Systematic Review and Meta-analysis.</a></div>
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Bikbov MM,
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Wang YX,
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Tang Y,
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Lu Y,
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Wong IY,
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Ting DSW,
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Tan GSW,
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<div class="nl"><a target="_blank" href="/pubmed/26978865">AGE-RELATED MACULAR DEGENERATION.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gheorghe A,
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<div class="nl"><a target="_blank" href="/pubmed/24807890">Retinal detachment.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22RCBTB1-related%20retinopathy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1758)</a></div></div>
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</div>
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4310680%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310680%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (8)</a></li>
|
||
<li><a href="/gtr/tests?term=C4310680%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4310680%5bDISCUI%5d" target="_blank">See all (8)</a></total></li>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(rcbtb1-related%20retinopathy)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22RCBTB1-related%20retinopathy%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ccd12bf4a390645e1d1373">RCBTB1-related retinopathy</a>
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