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<meta name="keywords" content="C4749334, bull's eye macular dystrophy, disease or syndrome, macular dystrophy, retinal, 2, macular dystrophy, retinal, type 2, mcdr2, mcdr2 - retinal macular dystrophy type 2, prom1, retinal macular dystrophy type 2, 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="A rare, genetic macular dystrophy disorder characterised by slowly progressive bull''s eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1666864
|
||
ConceptID=C4749334
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Retinal macular dystrophy type 2<span class="h1sub">(MCDR2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1666864</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:">C4749334</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>Bull's eye macular dystrophy; MCDR2</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Retinal macular dystrophy type 2 (770594005); MCDR2 - retinal macular dystrophy type 2 (770594005)</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="PROM1 - ID: 8842 - NCBI Gene" href="/gene/8842" class="medgenPMinfo">PROM1</a> (4p15.32)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011957" target="_blank">MONDO:0011957</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/608051" target="_blank">608051</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=319640">ORPHA319640</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">
|
||
<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">A rare, genetic macular dystrophy disorder characterised by slowly progressive bull''s eye maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, haematuria and recurrent miscarriages. Caused by mutation in the prominin-1 gene (PROM1). [from <a title="US Edition of SNOMED CT" href="http://www.nlm.nih.gov/research/umls/Snomed/us_edition.html" class="defSource" target="_blank">SNOMEDCT_US</a>]</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_57750"><div><strong>Central scotoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57750</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.">C0152191</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An area of depressed vision located at the point of fixation and that interferes with central vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57750">Feature record</a> | <a href="/medgen?term=%22Central%20scotoma%22%5BClinical%20Features%5D%20OR%2057750%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_196451"><div><strong>Macular dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196451</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.">C0730292</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196451">Feature record</a> | <a href="/medgen?term=%22Macular%20dystrophy%22%5BClinical%20Features%5D%20OR%20196451%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163559"><div><strong>Dyschromatopsia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163559</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.">C0858618</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163559">Feature record</a> | <a href="/medgen?term=%22Dyschromatopsia%22%5BClinical%20Features%5D%20OR%20163559%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="divPopper rprt" id="clin_870355"><div><strong>Granular macular appearance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870355</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.">C4024799</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/870355">Feature record</a> | <a href="/medgen?term=%22Granular%20macular%20appearance%22%5BClinical%20Features%5D%20OR%20870355%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892724"><div><strong>Perifoveal ring of hyperautofluorescence</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892724</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.">C4073099</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892724">Feature record</a> | <a href="/medgen?term=%22Perifoveal%20ring%20of%20hyperautofluorescence%22%5BClinical%20Features%5D%20OR%20892724%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_57750" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central scotoma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163559" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dyschromatopsia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870355" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Granular macular appearance</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196451" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macular dystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892724" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Perifoveal ring of hyperautofluorescence</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_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_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=C4749334[DISCUI]&test_type=Clinical" ref="ncbi_uid=1666864">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1666864" target="_blank" href="/omim/604365">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=1666864" ref="ncbi_uid=1666864">V</a></span></span><span class="TLline">Retinal macular dystrophy type 2</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842262" ref="tree=MeSH" title="MedGen record for Isolated macular dystrophy">Isolated macular dystrophy</a></span><ul><li><span class="matched_ds">Retinal macular dystrophy type 2</span></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/35087972">A review of neovascular glaucoma. Etiopathogenesis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dumbrăveanu L,
|
||
Cușnir V,
|
||
Bobescu D</span><br />
|
||
<span class="medgenPMjournal">Rom J Ophthalmol</span>
|
||
2021 Oct-Dec;65(4):315-329.
|
||
doi: 10.22336/rjo.2021.66.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35087972" target="_blank">35087972</a><a href="/pmc/articles/PMC8764420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30451174">Diabetic macular edema: Evidence-based management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Browning DJ,
|
||
Stewart MW,
|
||
Lee C</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2018 Dec;66(12):1736-1750.
|
||
doi: 10.4103/ijo.IJO_1240_18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30451174" target="_blank">30451174</a><a href="/pmc/articles/PMC6256891" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26501828">Treatment for Macular Telangiectasia Type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Charbel Issa P,
|
||
Kupitz EH,
|
||
Heeren TF,
|
||
Holz FG</span><br />
|
||
<span class="medgenPMjournal">Dev Ophthalmol</span>
|
||
2016;55:189-95.
|
||
Epub 2015 Oct 26
|
||
doi: 10.1159/000431263.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26501828" target="_blank">26501828</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(retinal%20macular%20dystrophy%20type%202)%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 (109)</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/37924946">Macular Neovascularization Type Influence on Anti-VEGF Intravitreal Therapy Outcomes in Age-Related Macular Degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Izquierdo-Serra J,
|
||
Martin-Pinardel R,
|
||
Moll-Udina A,
|
||
Bernal-Morales C,
|
||
Garay-Aramburu G,
|
||
Sanchez-Monroy J,
|
||
Arruabarrena C,
|
||
Fernandez-Hortelano A,
|
||
Figueroa MS,
|
||
Abraldes M,
|
||
Lavid de Los Mozos FJ,
|
||
Zapata MA,
|
||
Ruiz-Moreno JM,
|
||
Broc-Iturralde L,
|
||
Gonzalez-Guijarro J,
|
||
Escobar-Barranco JJ,
|
||
Gallego-Pinazo R,
|
||
Parrado-Carrillo A,
|
||
Dotti-Boada M,
|
||
Alforja S,
|
||
Figueras-Roca M,
|
||
Barthelmes D,
|
||
Gillies MC,
|
||
Casaroli-Marano RP,
|
||
Zarranz-Ventura J;
|
||
Writing Committee of the Fight Retinal Blindness Spain (FRB! Spain) Users Group</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2024 Apr;8(4):350-359.
|
||
Epub 2023 Nov 2
|
||
doi: 10.1016/j.oret.2023.10.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37924946" target="_blank">37924946</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38036571">Oxidative stress and docosahexaenoic acid injury lead to increased necroptosis and ferroptosis in retinal pigment epithelium.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neiteler A,
|
||
Palakkan AA,
|
||
Gallagher KM,
|
||
Ross JA</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2023 Nov 30;13(1):21143.
|
||
doi: 10.1038/s41598-023-47721-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38036571" target="_blank">38036571</a><a href="/pmc/articles/PMC10689458" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35196199">Treatments targeting autophagy ameliorate the age-related macular degeneration phenotype in mice lacking APOE (apolipoprotein E).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vessey KA,
|
||
Jobling AI,
|
||
Tran MX,
|
||
Wang AY,
|
||
Greferath U,
|
||
Fletcher EL</span><br />
|
||
<span class="medgenPMjournal">Autophagy</span>
|
||
2022 Oct;18(10):2368-2384.
|
||
Epub 2022 Feb 23
|
||
doi: 10.1080/15548627.2022.2034131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35196199" target="_blank">35196199</a><a href="/pmc/articles/PMC9542759" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30227415">Treatment Effects in Retinal Angiomatous Proliferation Imaged with OCT Angiography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Jong JH,
|
||
Braaf B,
|
||
Amarakoon S,
|
||
Gräfe M,
|
||
Yzer S,
|
||
Vermeer KA,
|
||
Missotten T,
|
||
de Boer JF,
|
||
van Velthoven MEJ</span><br />
|
||
<span class="medgenPMjournal">Ophthalmologica</span>
|
||
2019;241(3):143-153.
|
||
Epub 2018 Sep 18
|
||
doi: 10.1159/000491798.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30227415" target="_blank">30227415</a><a href="/pmc/articles/PMC6492610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22503691">How does the macula protect itself from oxidative stress?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Handa JT</span><br />
|
||
<span class="medgenPMjournal">Mol Aspects Med</span>
|
||
2012 Aug;33(4):418-35.
|
||
Epub 2012 Apr 5
|
||
doi: 10.1016/j.mam.2012.03.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22503691" target="_blank">22503691</a><a href="/pmc/articles/PMC3392444" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20macular%20dystrophy%20type%202%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 (1080)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38266500">Current Perspectives on Type 3 Macular Neovascularization due to Age-Related Macular Degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clemens CR,
|
||
Eter N,
|
||
Alten F</span><br />
|
||
<span class="medgenPMjournal">Ophthalmologica</span>
|
||
2024;247(2):73-84.
|
||
Epub 2024 Jan 24
|
||
doi: 10.1159/000536278.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38266500" target="_blank">38266500</a><a href="/pmc/articles/PMC11160428" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36517348">"Lipoid" Macular Edema in Familial Hypertriglyceridemia and Retinal Dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pinheiro RL,
|
||
Marques JP,
|
||
Murta JN</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2023 Feb;7(2):188.
|
||
Epub 2022 Dec 12
|
||
doi: 10.1016/j.oret.2022.11.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36517348" target="_blank">36517348</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35927124">Non-vasogenic cystoid maculopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaudric A,
|
||
Audo I,
|
||
Vignal C,
|
||
Couturier A,
|
||
Boulanger-Scemama É,
|
||
Tadayoni R,
|
||
Cohen SY</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2022 Nov;91:101092.
|
||
Epub 2022 Aug 1
|
||
doi: 10.1016/j.preteyeres.2022.101092.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35927124" target="_blank">35927124</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31584556">Diagnostic and Therapeutic Challenges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kolomeyer AM,
|
||
Brucker AJ,
|
||
Boldt HC</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2020 Oct;40(10):2061-2063.
|
||
doi: 10.1097/IAE.0000000000002652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31584556" target="_blank">31584556</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30227415">Treatment Effects in Retinal Angiomatous Proliferation Imaged with OCT Angiography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Jong JH,
|
||
Braaf B,
|
||
Amarakoon S,
|
||
Gräfe M,
|
||
Yzer S,
|
||
Vermeer KA,
|
||
Missotten T,
|
||
de Boer JF,
|
||
van Velthoven MEJ</span><br />
|
||
<span class="medgenPMjournal">Ophthalmologica</span>
|
||
2019;241(3):143-153.
|
||
Epub 2018 Sep 18
|
||
doi: 10.1159/000491798.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30227415" target="_blank">30227415</a><a href="/pmc/articles/PMC6492610" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20macular%20dystrophy%20type%202%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 (880)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38461843">Intravitreal aflibercept 8 mg in diabetic macular oedema (PHOTON): 48-week results from a randomised, double-masked, non-inferiority, phase 2/3 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brown DM,
|
||
Boyer DS,
|
||
Do DV,
|
||
Wykoff CC,
|
||
Sakamoto T,
|
||
Win P,
|
||
Joshi S,
|
||
Salehi-Had H,
|
||
Seres A,
|
||
Berliner AJ,
|
||
Leal S,
|
||
Vitti R,
|
||
Chu KW,
|
||
Reed K,
|
||
Rao R,
|
||
Cheng Y,
|
||
Sun W,
|
||
Voronca D,
|
||
Bhore R,
|
||
Schmidt-Ott U,
|
||
Schmelter T,
|
||
Schulze A,
|
||
Zhang X,
|
||
Hirshberg B,
|
||
Yancopoulos GD,
|
||
Sivaprasad S;
|
||
PHOTON Investigators</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
2024 Mar 23;403(10432):1153-1163.
|
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<span class="bold">PMID: </span><a href="/pubmed/38461843" target="_blank">38461843</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35087972">A review of neovascular glaucoma. Etiopathogenesis and treatment.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35087972">A review of neovascular glaucoma. Etiopathogenesis and treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dumbrăveanu L,
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Cușnir V,
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Bobescu D</span><br />
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<span class="medgenPMjournal">Rom J Ophthalmol</span>
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2021 Oct-Dec;65(4):315-329.
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<span class="bold">PMID: </span><a href="/pubmed/35087972" target="_blank">35087972</a><a href="/pmc/articles/PMC8764420" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27254533">An Unexpected Postvitrectomy Course.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Thanos A,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20macular%20dystrophy%20type%202%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 (503)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38584180">Risk of diabetic retinopathy and diabetic macular oedema with sodium-glucose cotransporter 2 inhibitors and glucagon-like peptide 1 receptor agonists in type 2 diabetes: a real-world data study from a global federated database.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Eleftheriadou A,
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<span class="bold">PMID: </span><a href="/pubmed/38584180" target="_blank">38584180</a><a href="/pmc/articles/PMC11153282" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37310870">Fenofibrate for diabetic retinopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kataoka SY,
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Lois N,
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Kawano S,
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Kataoka Y,
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Inoue K,
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<span class="bold">PMID: </span><a href="/pubmed/37310870" target="_blank">37310870</a><a href="/pmc/articles/PMC10264082" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35523467">Retinal neurodegeneration in patients with type 2 diabetes mellitus without diabetic retinopathy.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31037289">Effect of Initial Management With Aflibercept vs Laser Photocoagulation vs Observation on Vision Loss Among Patients With Diabetic Macular Edema Involving the Center of the Macula and Good Visual Acuity: A Randomized Clinical Trial.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Baker CW,
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Glassman AR,
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Beaulieu WT,
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Antoszyk AN,
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Browning DJ,
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Chalam KV,
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Melia M,
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Stockdale CR,
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Sun JK;
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2019 May 21;321(19):1880-1894.
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<div class="nl"><a target="_blank" href="/pubmed/27898976">Development and Validation of a Deep Learning Algorithm for Detection of Diabetic Retinopathy in Retinal Fundus Photographs.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gulshan V,
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Peng L,
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Narayanaswamy A,
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Venugopalan S,
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Widner K,
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Madams T,
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Cuadros J,
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Kim R,
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Raman R,
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Mega JL,
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<span class="bold">PMID: </span><a href="/pubmed/27898976" target="_blank">27898976</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20macular%20dystrophy%20type%202%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 (588)</a></div></div>
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</div>
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|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/38431596">Cell therapy for retinal degenerative disorders: a systematic review and three-level meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Khaboushan AS,
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Ebadpour N,
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Moghadam MMJ,
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Rezaee Z,
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Kajbafzadeh AM,
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doi: 10.1186/s12967-024-05016-x.
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<span class="bold">PMID: </span><a href="/pubmed/38431596" target="_blank">38431596</a><a href="/pmc/articles/PMC10908175" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37310870">Fenofibrate for diabetic retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kataoka SY,
|
||
Lois N,
|
||
Kawano S,
|
||
Kataoka Y,
|
||
Inoue K,
|
||
Watanabe N</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2023 Jun 13;6(6):CD013318.
|
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doi: 10.1002/14651858.CD013318.pub2.
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||
<span class="bold">PMID: </span><a href="/pubmed/37310870" target="_blank">37310870</a><a href="/pmc/articles/PMC10264082" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36815723">Prognostic factors for the development and progression of proliferative diabetic retinopathy in people with diabetic retinopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Perais J,
|
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Agarwal R,
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Evans JR,
|
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Loveman E,
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Colquitt JL,
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Owens D,
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Hogg RE,
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Lawrenson JG,
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Takwoingi Y,
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Lois N</span><br />
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<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
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2023 Feb 22;2(2):CD013775.
|
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doi: 10.1002/14651858.CD013775.pub2.
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||
<span class="bold">PMID: </span><a href="/pubmed/36815723" target="_blank">36815723</a><a href="/pmc/articles/PMC9943918" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34296660">The 100 top-cited articles in macular edema from 1950 to 2020.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang L,
|
||
Zhang Z,
|
||
Yao T,
|
||
Gao X,
|
||
Dan Y,
|
||
He Y</span><br />
|
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<span class="medgenPMjournal">Semin Ophthalmol</span>
|
||
2022 Feb 17;37(2):203-207.
|
||
Epub 2021 Jul 23
|
||
doi: 10.1080/08820538.2021.1954204.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34296660" target="_blank">34296660</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34371951">A Systematic Review of Carotenoids in the Management of Diabetic Retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lem DW,
|
||
Gierhart DL,
|
||
Davey PG</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2021 Jul 16;13(7)
|
||
doi: 10.3390/nu13072441.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34371951" target="_blank">34371951</a><a href="/pmc/articles/PMC8308772" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Retinal%20macular%20dystrophy%20type%202%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 (19)</a></div></div>
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||
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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=C4749334%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (17)</a></li>
|
||
<li><a href="/gtr/tests?term=C4749334%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C4749334%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4749334%5bDISCUI%5d" target="_blank">See all (24)</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=(retinal%20macular%20dystrophy%20type%202)%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(%22Retinal%20macular%20dystrophy%20type%202%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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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=604365" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=8842[geneid]" target="_blank">View PROM1 variations in ClinVar</a></li><li><a href="/nuccore/225690512" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=608051" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Macular+dystrophy%2C+retinal%2C+2/8778" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/macular_dystrophy_retinal_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Retinal%20macular%20dystrophy%20type%202" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/17467/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/clinical?term=Retinal%20macular%20dystrophy%20type%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Retinal%20macular%20dystrophy%20type%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1666864" ref="log$=recordlinks">ClinVar</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=1666864" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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Clear
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cb5e3884f3725e59735f39">Retinal macular dystrophy type 2</a>
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<div class="ralinkpop offscreen_noflow">Retinal macular dystrophy type 2<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cb5e3484f3725e59734bd4">C4749334[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cb5e33f4a390645e772427">C0854723[trait identifier] AND "Illumina Laboratory Services, Ill... <span class="number">(1175)</span></a>
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<div class="ralinkpop offscreen_noflow">C0854723[trait identifier] AND "Illumina Laboratory Services, Illumina"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cb5e32b15b832ebc41bab5">Retinal dystrophy</a>
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<div class="ralinkpop offscreen_noflow">Retinal dystrophy<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cb5e30a68b6b5afcb0f892">C0854723[conceptid] <span class="number">(1)</span></a>
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<div class="tertiary">MedGen</div>
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