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<meta name="keywords" content="C5774187, clec3b, disease or syndrome, macular dystrophy, retinal, 4, mcdr4, 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="Retinal macular dystrophy-4 (MCDR4) is characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization. Patients also exhibit extensive retinal dysfunction with impaired rod function (Zhou et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of retinal macular dystrophy, see MCDR1 (136550)." /><meta name="robots" content="index,nofollow,noarchive" />
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||
<!--
|
||
UID=1823960
|
||
ConceptID=C5774187
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Macular dystrophy, retinal, 4<span class="h1sub">(MCDR4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823960</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:">C5774187</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>MCDR4</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="CLEC3B - ID: 7123 - NCBI Gene" href="/gene/7123" class="medgenPMinfo">CLEC3B</a> (3p21.31)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0859568" target="_blank">MONDO:0859568</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619977" target="_blank">619977</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">Retinal macular dystrophy-4 (MCDR4) is characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization. Patients also exhibit extensive retinal dysfunction with impaired rod function (Zhou et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of retinal macular dystrophy, see MCDR1 (136550). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</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_10349"><div><strong>Night blindness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10349</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.">C0028077</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Inability to see well at night or in poor light.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10349">Feature record</a> | <a href="/medgen?term=%22Night%20blindness%22%5BClinical%20Features%5D%20OR%2010349%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_154726"><div><strong>Choroidal neovascularization</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154726</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.">C0600518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/154726">Feature record</a> | <a href="/medgen?term=%22Choroidal%20neovascularization%22%5BClinical%20Features%5D%20OR%20154726%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892629"><div><strong>Reduced OCT-measured foveal thickness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892629</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.">C4073089</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892629">Feature record</a> | <a href="/medgen?term=%22Reduced%20OCT-measured%20foveal%20thickness%22%5BClinical%20Features%5D%20OR%20892629%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_154726" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Choroidal neovascularization</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10349" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Night blindness</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced OCT-measured foveal thickness</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></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35886930">The Role of Intravitreal Corticosteroids in the Treatment of DME: Predictive OCT Biomarkers.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Munk MR,
|
||
Somfai GM,
|
||
de Smet MD,
|
||
Donati G,
|
||
Menke MN,
|
||
Garweg JG,
|
||
Ceklic L</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Jul 8;23(14)
|
||
doi: 10.3390/ijms23147585.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35886930" target="_blank">35886930</a><a href="/pmc/articles/PMC9319632" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35120629">Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cornelis SS,
|
||
Runhart EH,
|
||
Bauwens M,
|
||
Corradi Z,
|
||
De Baere E,
|
||
Roosing S,
|
||
Haer-Wigman L,
|
||
Dhaenens CM,
|
||
Vulto-van Silfhout AT,
|
||
Cremers FPM</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2022 Mar 3;109(3):498-507.
|
||
Epub 2022 Feb 3
|
||
doi: 10.1016/j.ajhg.2022.01.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35120629" target="_blank">35120629</a><a href="/pmc/articles/PMC8948157" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28423385">Guidelines for the Management of Diabetic Macular Edema by the European Society of Retina Specialists (EURETINA).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schmidt-Erfurth U,
|
||
Garcia-Arumi J,
|
||
Bandello F,
|
||
Berg K,
|
||
Chakravarthy U,
|
||
Gerendas BS,
|
||
Jonas J,
|
||
Larsen M,
|
||
Tadayoni R,
|
||
Loewenstein A</span><br />
|
||
<span class="medgenPMjournal">Ophthalmologica</span>
|
||
2017;237(4):185-222.
|
||
Epub 2017 Apr 20
|
||
doi: 10.1159/000458539.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28423385" target="_blank">28423385</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(macular%20dystrophy%2C%20retinal%2C%204)%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 (713)</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/34843745">Gut microbiota and age-related macular degeneration: A growing partnership.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lima-Fontes M,
|
||
Meira L,
|
||
Barata P,
|
||
Falcão M,
|
||
Carneiro Â</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2022 Jul-Aug;67(4):883-891.
|
||
Epub 2021 Nov 26
|
||
doi: 10.1016/j.survophthal.2021.11.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34843745" target="_blank">34843745</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31704701">Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rahman N,
|
||
Georgiou M,
|
||
Khan KN,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2020 Apr;104(4):451-460.
|
||
Epub 2019 Nov 8
|
||
doi: 10.1136/bjophthalmol-2019-315086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31704701" target="_blank">31704701</a><a href="/pmc/articles/PMC7147237" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29103793">Consensus Definition for Atrophy Associated with Age-Related Macular Degeneration on OCT: Classification of Atrophy Report 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sadda SR,
|
||
Guymer R,
|
||
Holz FG,
|
||
Schmitz-Valckenberg S,
|
||
Curcio CA,
|
||
Bird AC,
|
||
Blodi BA,
|
||
Bottoni F,
|
||
Chakravarthy U,
|
||
Chew EY,
|
||
Csaky K,
|
||
Danis RP,
|
||
Fleckenstein M,
|
||
Freund KB,
|
||
Grunwald J,
|
||
Hoyng CB,
|
||
Jaffe GJ,
|
||
Liakopoulos S,
|
||
Monés JM,
|
||
Pauleikhoff D,
|
||
Rosenfeld PJ,
|
||
Sarraf D,
|
||
Spaide RF,
|
||
Tadayoni R,
|
||
Tufail A,
|
||
Wolf S,
|
||
Staurenghi G</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2018 Apr;125(4):537-548.
|
||
Epub 2017 Nov 2
|
||
doi: 10.1016/j.ophtha.2017.09.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29103793" target="_blank">29103793</a><a href="/pmc/articles/PMC11366072" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23332590">Clinical classification of age-related macular degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferris FL 3rd,
|
||
Wilkinson CP,
|
||
Bird A,
|
||
Chakravarthy U,
|
||
Chew E,
|
||
Csaky K,
|
||
Sadda SR;
|
||
Beckman Initiative for Macular Research Classification Committee</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2013 Apr;120(4):844-51.
|
||
Epub 2013 Jan 16
|
||
doi: 10.1016/j.ophtha.2012.10.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23332590" target="_blank">23332590</a><a href="/pmc/articles/PMC11551519" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22504022">Complement dysregulation in AMD: RPE-Bruch's membrane-choroid.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sparrow JR,
|
||
Ueda K,
|
||
Zhou J</span><br />
|
||
<span class="medgenPMjournal">Mol Aspects Med</span>
|
||
2012 Aug;33(4):436-45.
|
||
Epub 2012 Apr 5
|
||
doi: 10.1016/j.mam.2012.03.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22504022" target="_blank">22504022</a><a href="/pmc/articles/PMC3518656" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macular%20dystrophy%2C%20retinal%2C%204%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 (5484)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37940365">Stargardt macular dystrophy and therapeutic approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujinami K,
|
||
Waheed N,
|
||
Laich Y,
|
||
Yang P,
|
||
Fujinami-Yokokawa Y,
|
||
Higgins JJ,
|
||
Lu JT,
|
||
Curtiss D,
|
||
Clary C,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2024 Mar 20;108(4):495-505.
|
||
doi: 10.1136/bjo-2022-323071.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37940365" target="_blank">37940365</a><a href="/pmc/articles/PMC10958310" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32896362">Oxalate Maculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kourti P,
|
||
Gonzalez-Martin J,
|
||
Yeo DCM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2020 Sep;4(9):898.
|
||
doi: 10.1016/j.oret.2020.04.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32896362" target="_blank">32896362</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31704701">Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rahman N,
|
||
Georgiou M,
|
||
Khan KN,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2020 Apr;104(4):451-460.
|
||
Epub 2019 Nov 8
|
||
doi: 10.1136/bjophthalmol-2019-315086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31704701" target="_blank">31704701</a><a href="/pmc/articles/PMC7147237" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29103793">Consensus Definition for Atrophy Associated with Age-Related Macular Degeneration on OCT: Classification of Atrophy Report 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sadda SR,
|
||
Guymer R,
|
||
Holz FG,
|
||
Schmitz-Valckenberg S,
|
||
Curcio CA,
|
||
Bird AC,
|
||
Blodi BA,
|
||
Bottoni F,
|
||
Chakravarthy U,
|
||
Chew EY,
|
||
Csaky K,
|
||
Danis RP,
|
||
Fleckenstein M,
|
||
Freund KB,
|
||
Grunwald J,
|
||
Hoyng CB,
|
||
Jaffe GJ,
|
||
Liakopoulos S,
|
||
Monés JM,
|
||
Pauleikhoff D,
|
||
Rosenfeld PJ,
|
||
Sarraf D,
|
||
Spaide RF,
|
||
Tadayoni R,
|
||
Tufail A,
|
||
Wolf S,
|
||
Staurenghi G</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2018 Apr;125(4):537-548.
|
||
Epub 2017 Nov 2
|
||
doi: 10.1016/j.ophtha.2017.09.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29103793" target="_blank">29103793</a><a href="/pmc/articles/PMC11366072" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23332590">Clinical classification of age-related macular degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferris FL 3rd,
|
||
Wilkinson CP,
|
||
Bird A,
|
||
Chakravarthy U,
|
||
Chew E,
|
||
Csaky K,
|
||
Sadda SR;
|
||
Beckman Initiative for Macular Research Classification Committee</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2013 Apr;120(4):844-51.
|
||
Epub 2013 Jan 16
|
||
doi: 10.1016/j.ophtha.2012.10.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23332590" target="_blank">23332590</a><a href="/pmc/articles/PMC11551519" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macular%20dystrophy%2C%20retinal%2C%204%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 (4134)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37972955">LIGHTSITE III: 13-Month Efficacy and Safety Evaluation of Multiwavelength Photobiomodulation in Nonexudative (Dry) Age-Related Macular Degeneration Using the Lumithera Valeda Light Delivery System.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boyer D,
|
||
Hu A,
|
||
Warrow D,
|
||
Xavier S,
|
||
Gonzalez V,
|
||
Lad E,
|
||
Rosen RB,
|
||
Do D,
|
||
Schneiderman T,
|
||
Ho A,
|
||
Munk MR,
|
||
Jaffe G,
|
||
Tedford SE,
|
||
Croissant CL,
|
||
Walker M,
|
||
Rückert R,
|
||
Tedford CE</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2024 Mar 1;44(3):487-497.
|
||
doi: 10.1097/IAE.0000000000003980.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37972955" target="_blank">37972955</a><a href="/pmc/articles/PMC10885856" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36964259">Avacincaptad pegol for geographic atrophy secondary to age-related macular degeneration: 18-month findings from the GATHER1 trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patel SS,
|
||
Lally DR,
|
||
Hsu J,
|
||
Wykoff CC,
|
||
Eichenbaum D,
|
||
Heier JS,
|
||
Jaffe GJ,
|
||
Westby K,
|
||
Desai D,
|
||
Zhu L,
|
||
Khanani AM</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2023 Dec;37(17):3551-3557.
|
||
Epub 2023 Mar 24
|
||
doi: 10.1038/s41433-023-02497-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36964259" target="_blank">36964259</a><a href="/pmc/articles/PMC10686386" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32882310">C5 Inhibitor Avacincaptad Pegol for Geographic Atrophy Due to Age-Related Macular Degeneration: A Randomized Pivotal Phase 2/3 Trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jaffe GJ,
|
||
Westby K,
|
||
Csaky KG,
|
||
Monés J,
|
||
Pearlman JA,
|
||
Patel SS,
|
||
Joondeph BC,
|
||
Randolph J,
|
||
Masonson H,
|
||
Rezaei KA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2021 Apr;128(4):576-586.
|
||
Epub 2020 Sep 1
|
||
doi: 10.1016/j.ophtha.2020.08.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32882310" target="_blank">32882310</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31704701">Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rahman N,
|
||
Georgiou M,
|
||
Khan KN,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2020 Apr;104(4):451-460.
|
||
Epub 2019 Nov 8
|
||
doi: 10.1136/bjophthalmol-2019-315086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31704701" target="_blank">31704701</a><a href="/pmc/articles/PMC7147237" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12515077">Antiangiogenesis agents.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ciardella AP,
|
||
Donsoff IM,
|
||
Guyer DR,
|
||
Adamis A,
|
||
Yannuzzi LA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Clin North Am</span>
|
||
2002 Dec;15(4):453-8.
|
||
doi: 10.1016/s0896-1549(02)00042-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12515077" target="_blank">12515077</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macular%20dystrophy%2C%20retinal%2C%204%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3966)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32379287">Characterization of Drusen and Hyperreflective Foci as Biomarkers for Disease Progression in Age-Related Macular Degeneration Using Artificial Intelligence in Optical Coherence Tomography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waldstein SM,
|
||
Vogl WD,
|
||
Bogunovic H,
|
||
Sadeghipour A,
|
||
Riedl S,
|
||
Schmidt-Erfurth U</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2020 Jul 1;138(7):740-747.
|
||
doi: 10.1001/jamaophthalmol.2020.1376.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32379287" target="_blank">32379287</a><a href="/pmc/articles/PMC7206537" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26780318">Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang F,
|
||
Pan Z,
|
||
Xu K,
|
||
Tian L,
|
||
Xie Y,
|
||
Zhang X,
|
||
Chen J,
|
||
Dong B,
|
||
Li Y</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2016 Jan 1;57(1):145-52.
|
||
doi: 10.1167/iovs.15-18190.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26780318" target="_blank">26780318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24356074">Bimonthly ranibizumab for neovascular age-related macular degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen SY,
|
||
Maloberti B,
|
||
Fajnkuchen F,
|
||
Nghiem-Buffet S,
|
||
Delahaye-Mazza C,
|
||
Grenet T,
|
||
Quentel G</span><br />
|
||
<span class="medgenPMjournal">Ophthalmologica</span>
|
||
2014;231(2):80-5.
|
||
Epub 2013 Dec 13
|
||
doi: 10.1159/000356401.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24356074" target="_blank">24356074</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23332590">Clinical classification of age-related macular degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferris FL 3rd,
|
||
Wilkinson CP,
|
||
Bird A,
|
||
Chakravarthy U,
|
||
Chew E,
|
||
Csaky K,
|
||
Sadda SR;
|
||
Beckman Initiative for Macular Research Classification Committee</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2013 Apr;120(4):844-51.
|
||
Epub 2013 Jan 16
|
||
doi: 10.1016/j.ophtha.2012.10.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23332590" target="_blank">23332590</a><a href="/pmc/articles/PMC11551519" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7541027">Bilateral radial chorioretinal folds.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cohen SM,
|
||
Gass JD</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
1994-1995;18(4):243-5.
|
||
doi: 10.1007/BF00951806.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7541027" target="_blank">7541027</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macular%20dystrophy%2C%20retinal%2C%204%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 (2725)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37088447">Surgery, Tissue Plasminogen Activator, Antiangiogenic Agents, and Age-Related Macular Degeneration Study: A Randomized Controlled Trial for Submacular Hemorrhage Secondary to Age-Related Macular Degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gabrielle PH,
|
||
Delyfer MN,
|
||
Glacet-Bernard A,
|
||
Conart JB,
|
||
Uzzan J,
|
||
Kodjikian L,
|
||
Arndt C,
|
||
Tadayoni R,
|
||
Soudry-Faure A,
|
||
Creuzot Garcher CP</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2023 Sep;130(9):947-957.
|
||
Epub 2023 Apr 22
|
||
doi: 10.1016/j.ophtha.2023.04.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37088447" target="_blank">37088447</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36787231">Early-life peripheral infections reprogram retinal microglia and aggravate neovascular age-related macular degeneration in later life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hata M,
|
||
Hata M,
|
||
Andriessen EM,
|
||
Juneau R,
|
||
Pilon F,
|
||
Crespo-Garcia S,
|
||
Diaz-Marin R,
|
||
Guber V,
|
||
Binet F,
|
||
Fournier F,
|
||
Buscarlet M,
|
||
Grou C,
|
||
Calderon V,
|
||
Heckel E,
|
||
Melichar HJ,
|
||
Joyal JS,
|
||
Wilson AM,
|
||
Sapieha P</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
2023 Feb 15;133(4)
|
||
doi: 10.1172/JCI159757.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36787231" target="_blank">36787231</a><a href="/pmc/articles/PMC9927938" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36071082">Sub-retinal pigment epithelium tubules in non-neovascular age-related macular degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fragiotta S,
|
||
Parravano M,
|
||
Sacconi R,
|
||
Costanzo E,
|
||
De Geronimo D,
|
||
Prascina F,
|
||
Capuano V,
|
||
Souied EH,
|
||
Han IC,
|
||
Mullins R,
|
||
Querques G</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Sep 7;12(1):15198.
|
||
doi: 10.1038/s41598-022-19193-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36071082" target="_blank">36071082</a><a href="/pmc/articles/PMC9452588" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29664985">Photodynamic Therapy-Induced Macular Hole.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Greven MA,
|
||
Leung LB</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Surg Lasers Imaging Retina</span>
|
||
2018 Apr 1;49(4):270-272.
|
||
doi: 10.3928/23258160-20180329-10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29664985" target="_blank">29664985</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23332590">Clinical classification of age-related macular degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferris FL 3rd,
|
||
Wilkinson CP,
|
||
Bird A,
|
||
Chakravarthy U,
|
||
Chew E,
|
||
Csaky K,
|
||
Sadda SR;
|
||
Beckman Initiative for Macular Research Classification Committee</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2013 Apr;120(4):844-51.
|
||
Epub 2013 Jan 16
|
||
doi: 10.1016/j.ophtha.2012.10.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23332590" target="_blank">23332590</a><a href="/pmc/articles/PMC11551519" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macular%20dystrophy%2C%20retinal%2C%204%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 (2866)</a></div></div>
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|
||
|
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<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>
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<div class="nl"><a target="_blank" href="/pubmed/37751021">Comparative Efficacy, Durability and Safety of Faricimab in the Treatment of Diabetic Macular Edema: A Systematic Literature Review and Network Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watkins C,
|
||
Paulo T,
|
||
Bührer C,
|
||
Holekamp NM,
|
||
Bagijn M</span><br />
|
||
<span class="medgenPMjournal">Adv Ther</span>
|
||
2023 Dec;40(12):5204-5221.
|
||
Epub 2023 Sep 26
|
||
doi: 10.1007/s12325-023-02675-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37751021" target="_blank">37751021</a><a href="/pmc/articles/PMC10937806" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33576772">A Global Assessment of Eye Health and Quality of Life: A Systematic Review of Systematic Reviews.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Assi L,
|
||
Chamseddine F,
|
||
Ibrahim P,
|
||
Sabbagh H,
|
||
Rosman L,
|
||
Congdon N,
|
||
Evans J,
|
||
Ramke J,
|
||
Kuper H,
|
||
Burton MJ,
|
||
Ehrlich JR,
|
||
Swenor BK</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2021 May 1;139(5):526-541.
|
||
doi: 10.1001/jamaophthalmol.2021.0146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33576772" target="_blank">33576772</a><a href="/pmc/articles/PMC7881366" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32347918">The Complications of Myopia: A Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haarman AEG,
|
||
Enthoven CA,
|
||
Tideman JWL,
|
||
Tedja MS,
|
||
Verhoeven VJM,
|
||
Klaver CCW</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2020 Apr 9;61(4):49.
|
||
doi: 10.1167/iovs.61.4.49.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32347918" target="_blank">32347918</a><a href="/pmc/articles/PMC7401976" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31712255">Prevalence and incidence of age-related macular degeneration in Europe: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li JQ,
|
||
Welchowski T,
|
||
Schmid M,
|
||
Mauschitz MM,
|
||
Holz FG,
|
||
Finger RP</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2020 Aug;104(8):1077-1084.
|
||
Epub 2019 Nov 11
|
||
doi: 10.1136/bjophthalmol-2019-314422.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31712255" target="_blank">31712255</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25104651">Global prevalence of age-related macular degeneration and disease burden projection for 2020 and 2040: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong WL,
|
||
Su X,
|
||
Li X,
|
||
Cheung CM,
|
||
Klein R,
|
||
Cheng CY,
|
||
Wong TY</span><br />
|
||
<span class="medgenPMjournal">Lancet Glob Health</span>
|
||
2014 Feb;2(2):e106-16.
|
||
Epub 2014 Jan 3
|
||
doi: 10.1016/S2214-109X(13)70145-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25104651" target="_blank">25104651</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Macular%20dystrophy%2C%20retinal%2C%204%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 (123)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5774187%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
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<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/macular_dystrophy_retinal_4" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Macular%20dystrophy,%20retinal,%204" target="_blank">MedlinePlus</a></li></ul></div>
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