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<meta name="keywords" content="C4551953, disease or syndrome, macular dystrophy, atypical vitelliform, macular dystrophy, vitelliform, 1, vitelliform macular dystrophy 1, vitelliform macular dystrophy, atypical, vmd1, 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="Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by Manes et al., 2013). In contrast to typical VMD (see 153700), patients with atypical VMD may exhibit normal electrooculography, even when severe loss of vision is present, and fluorescein angiography is thus the most reliable test for identifying affected individuals (Hittner et al., 1984). Genetic Heterogeneity of Vitelliform Macular Dystrophy See also vitelliform macular dystrophy-2 (VMD2; 153700), caused by mutation in the BEST1 gene (607854) on chromosome 11q12; VMD3 (608161), caused by mutation in the PRPH2 gene (179605) on chromosome 6p21; VMD4 (616151), caused by mutation in the IMPG1 gene (602870) on chromosome 6q14; and VMD5 (616152), caused by mutation in the IMPG2 gene (607056) on chromosome 3q12." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1636950
|
||
ConceptID=C4551953
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Vitelliform macular dystrophy 1<span class="h1sub">(VMD1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1636950</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.">C4551953</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>Macular dystrophy, atypical vitelliform; VMD1</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007933" target="_blank">MONDO:0007933</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/153840" target="_blank">153840</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by Manes et al., 2013). In contrast to typical VMD (see 153700), patients with atypical VMD may exhibit normal electrooculography, even when severe loss of vision is present, and fluorescein angiography is thus the most reliable test for identifying affected individuals (Hittner et al., 1984). Genetic Heterogeneity of Vitelliform Macular Dystrophy See also vitelliform macular dystrophy-2 (VMD2; 153700), caused by mutation in the BEST1 gene (607854) on chromosome 11q12; VMD3 (608161), caused by mutation in the PRPH2 gene (179605) on chromosome 6p21; VMD4 (616151), caused by mutation in the IMPG1 gene (602870) on chromosome 6q14; and VMD5 (616152), caused by mutation in the IMPG2 gene (607056) on chromosome 3q12. [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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<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_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_777085"><div><strong>Visual impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>777085</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.">C3665347</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/777085">Feature record</a> | <a href="/medgen?term=%22Visual%20impairment%22%5BClinical%20Features%5D%20OR%20777085%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_854603"><div><strong>Visual field defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854603</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.">C3887875</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An absolute or relative reduction in the extent of the normal field of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854603">Feature record</a> | <a href="/medgen?term=%22Visual%20field%20defect%22%5BClinical%20Features%5D%20OR%20854603%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_892486"><div><strong>Vitelliform-like macular lesions</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892486</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.">C4024817</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892486">Feature record</a> | <a href="/medgen?term=%22Vitelliform-like%20macular%20lesions%22%5BClinical%20Features%5D%20OR%20892486%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_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_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_854603" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visual field defect</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_777085" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Visual impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_892486" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vitelliform-like macular lesions</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0339510[DISCUI]&test_type=Clinical" ref="ncbi_uid=137920">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=137920" ref="ncbi_uid=137920">V</a></span></span><span class="TLline"><a href="/medgen/137920" ref="tree=GTR&ncbi_uid=137920&link_uid=137920" title="View MedGen record for 'Vitelliform macular dystrophy'">Vitelliform macular dystrophy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842914[DISCUI]&test_type=Clinical" ref="ncbi_uid=334280">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334280" target="_blank" href="/omim/179605">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=334280" ref="ncbi_uid=334280">V</a></span></span><span class="TLline"><a href="/medgen/334280" ref="tree=GTR&ncbi_uid=334280&link_uid=334280" title="View MedGen record for 'Adult-onset foveomacular vitelliform dystrophy'">Adult-onset foveomacular vitelliform dystrophy</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1636950" target="_blank" href="/omim/153840">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=1636950" ref="ncbi_uid=1636950">V</a></span></span><span class="TLline">Vitelliform macular dystrophy 1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=CN295869[DISCUI]&test_type=Clinical" ref="ncbi_uid=979022">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=979022" ref="ncbi_uid=979022">V</a></span></span><span class="TLline"><a href="/medgen/979022" ref="tree=GTR&ncbi_uid=979022&link_uid=979022" title="View MedGen record for 'Vitelliform macular dystrophy 3'">Vitelliform macular dystrophy 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4015342[DISCUI]&test_type=Clinical" ref="ncbi_uid=863779">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863779" target="_blank" href="/omim/602870">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=863779" ref="ncbi_uid=863779">V</a></span></span><span class="TLline"><a href="/medgen/863779" ref="tree=GTR&ncbi_uid=863779&link_uid=863779" title="View MedGen record for 'Vitelliform macular dystrophy 4'">Vitelliform macular dystrophy 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4015343[DISCUI]&test_type=Clinical" ref="ncbi_uid=863780">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=863780" target="_blank" href="/omim/607056">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=863780" ref="ncbi_uid=863780">V</a></span></span><span class="TLline"><a href="/medgen/863780" ref="tree=GTR&ncbi_uid=863780&link_uid=863780" title="View MedGen record for 'Vitelliform macular dystrophy 5'">Vitelliform macular dystrophy 5</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/357005" ref="tree=MeSH" title="MedGen record for Patterned dystrophy of the retinal pigment epithelium">Patterned dystrophy of the retinal pigment epithelium</a></span><ul><li><span class="TLline"><a href="/medgen/334280" ref="tree=MeSH" title="MedGen record for Adult-onset foveomacular vitelliform dystrophy">Adult-onset foveomacular vitelliform dystrophy</a></span><ul><li><span class="matched_ds">Vitelliform macular dystrophy 1</span></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/38411968">Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Beryozkin A,
|
||
Sher I,
|
||
Ehrenberg M,
|
||
Zur D,
|
||
Newman H,
|
||
Gradstein L,
|
||
Simaan F,
|
||
Rotenstreich Y,
|
||
Goldenberg-Cohen N,
|
||
Bahar I,
|
||
Blumenfeld A,
|
||
Rivera A,
|
||
Rosin B,
|
||
Deitch-Harel I,
|
||
Perlman I,
|
||
Mechoulam H,
|
||
Chowers I,
|
||
Leibu R,
|
||
Ben-Yosef T,
|
||
Pras E,
|
||
Banin E,
|
||
Sharon D,
|
||
Khateb S</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2024 Feb 1;65(2):39.
|
||
doi: 10.1167/iovs.65.2.39.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38411968" target="_blank">38411968</a><a href="/pmc/articles/PMC10910552" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24846624">Bevacizumab treatment for choroidal neovascularization associated with adult-onset foveomacular vitelliform dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tiosano L,
|
||
Jaouni T,
|
||
Averbukh E,
|
||
Grunin M,
|
||
Banin E,
|
||
Chowers I</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2014 Nov-Dec;24(6):890-6.
|
||
Epub 2014 May 20
|
||
doi: 10.5301/ejo.5000486.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24846624" target="_blank">24846624</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22633354">Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bitner H,
|
||
Schatz P,
|
||
Mizrahi-Meissonnier L,
|
||
Sharon D,
|
||
Rosenberg T</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2012 Aug;154(2):403-412.e4.
|
||
Epub 2012 May 24
|
||
doi: 10.1016/j.ajo.2012.02.036.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22633354" target="_blank">22633354</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(vitelliform%20macular%20dystrophy%201)%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 (6)</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/38278445">Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laich Y,
|
||
Georgiou M,
|
||
Fujinami K,
|
||
Daich Varela M,
|
||
Fujinami-Yokokawa Y,
|
||
Hashem SA,
|
||
Cabral de Guimaraes TA,
|
||
Mahroo OA,
|
||
Webster AR,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2024 Jul;131(7):845-854.
|
||
Epub 2024 Jan 24
|
||
doi: 10.1016/j.ophtha.2024.01.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38278445" target="_blank">38278445</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34298229">Expanded Clinical Spectrum of Pentosan Polysulfate Maculopathy: A Macula Society Collaborative Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jain N,
|
||
Liao A,
|
||
Garg SJ,
|
||
Patel SN,
|
||
Wykoff CC,
|
||
Yu HJ,
|
||
London NJS,
|
||
Khurana RN,
|
||
Zacks DN;
|
||
Macula Society Pentosan Polysulfate Maculopathy Study Group</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2022 Mar;6(3):219-227.
|
||
Epub 2021 Jul 21
|
||
doi: 10.1016/j.oret.2021.07.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34298229" target="_blank">34298229</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33243830">Predominance of hyperopia in autosomal dominant Best vitelliform macular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coussa RG,
|
||
Binkley EM,
|
||
Wilkinson ME,
|
||
Andorf JL,
|
||
Tucker BA,
|
||
Mullins RF,
|
||
Sohn EH,
|
||
Yannuzzi LA,
|
||
Stone EM,
|
||
Han IC</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2022 Apr;106(4):522-527.
|
||
Epub 2020 Nov 26
|
||
doi: 10.1136/bjophthalmol-2020-317763.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33243830" target="_blank">33243830</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32251237">INTRARETINAL HYPERREFLECTIVE LINES.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amoroso F,
|
||
Mrejen S,
|
||
Pedinielli A,
|
||
Tabary S,
|
||
Souied EH,
|
||
Gaudric A,
|
||
Cohen SY</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2021 Jan 1;41(1):82-92.
|
||
doi: 10.1097/IAE.0000000000002806.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32251237" target="_blank">32251237</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30298528">Reticular pseudodrusen: current understanding.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wightman AJ,
|
||
Guymer RH</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Optom</span>
|
||
2019 Sep;102(5):455-462.
|
||
Epub 2018 Oct 8
|
||
doi: 10.1111/cxo.12842.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30298528" target="_blank">30298528</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vitelliform%20macular%20dystrophy%201%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 (110)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38278445">Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Laich Y,
|
||
Georgiou M,
|
||
Fujinami K,
|
||
Daich Varela M,
|
||
Fujinami-Yokokawa Y,
|
||
Hashem SA,
|
||
Cabral de Guimaraes TA,
|
||
Mahroo OA,
|
||
Webster AR,
|
||
Michaelides M</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2024 Jul;131(7):845-854.
|
||
Epub 2024 Jan 24
|
||
doi: 10.1016/j.ophtha.2024.01.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38278445" target="_blank">38278445</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37748432">Cloudy Vitelliform Submaculopathy as an Early Sign of Primary Vitreoretinal Lymphoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen C,
|
||
Liu K,
|
||
Gong Y,
|
||
Yu S,
|
||
Xu X,
|
||
Su L</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2024 Jan 1;44(1):e1-e2.
|
||
doi: 10.1097/IAE.0000000000003938.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37748432" target="_blank">37748432</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36972471">Multimodal imaging in Best Vitelliform Macular Dystrophy: Literature review and novel insights.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bianco L,
|
||
Arrigo A,
|
||
Antropoli A,
|
||
Berni A,
|
||
Saladino A,
|
||
Vilela MA,
|
||
Mansour AM,
|
||
Bandello F,
|
||
Battaglia Parodi M</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2024 Jan;34(1):39-51.
|
||
Epub 2023 Mar 27
|
||
doi: 10.1177/11206721231166434.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36972471" target="_blank">36972471</a><a href="/pmc/articles/PMC10757402" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32251237">INTRARETINAL HYPERREFLECTIVE LINES.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Amoroso F,
|
||
Mrejen S,
|
||
Pedinielli A,
|
||
Tabary S,
|
||
Souied EH,
|
||
Gaudric A,
|
||
Cohen SY</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2021 Jan 1;41(1):82-92.
|
||
doi: 10.1097/IAE.0000000000002806.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32251237" target="_blank">32251237</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2190134">Best's vitelliform dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Blodi CF,
|
||
Stone EM</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Paediatr Genet</span>
|
||
1990 Mar;11(1):49-59.
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<span class="bold">PMID: </span><a href="/pubmed/2190134" target="_blank">2190134</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vitelliform%20macular%20dystrophy%201%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 (167)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/34298229">Expanded Clinical Spectrum of Pentosan Polysulfate Maculopathy: A Macula Society Collaborative Study.</a></div>
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2022 Mar;6(3):219-227.
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<div class="portlet_content ln"><span class="medgenPMauthor">Coleman DJ,
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<div class="nl"><a target="_blank" href="/pubmed/29195727">Clinical and imaging findings of pattern dystrophy subtypes; Diagnostic errors and unnecessary treatment in clinical practice.</a></div>
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<span class="medgenPMjournal">J Fr Ophtalmol</span>
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2018 Jan;41(1):21-29.
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<div class="nl"><a target="_blank" href="/pubmed/27031371">Bilateral macular holes and a new onset vitelliform lesion in Best disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Liu J,
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Xuan Y,
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Zhang Y,
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Liu W,
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<span class="medgenPMjournal">Ophthalmic Genet</span>
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2017 Jan-Feb;38(1):79-82.
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<div class="nl"><a target="_blank" href="/pubmed/22938515">An evidence-based review of vascular endothelial growth factor inhibition in pediatric retinal diseases: part 2. Coats' disease, best disease, and uveitis with childhood neovascularization.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chaudhary KM,
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Mititelu M,
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<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
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<span class="bold">PMID: </span><a href="/pubmed/22938515" target="_blank">22938515</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vitelliform%20macular%20dystrophy%201%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 (31)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38278445">Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Laich Y,
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Georgiou M,
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Fujinami K,
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Daich Varela M,
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Fujinami-Yokokawa Y,
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Hashem SA,
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Cabral de Guimaraes TA,
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Mahroo OA,
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Webster AR,
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Michaelides M</span><br />
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<span class="medgenPMjournal">Ophthalmology</span>
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2024 Jul;131(7):845-854.
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<span class="bold">PMID: </span><a href="/pubmed/38278445" target="_blank">38278445</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/33524461">The best course of action.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Vaphiades MS,
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Nudleman E</span><br />
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<span class="medgenPMjournal">Surv Ophthalmol</span>
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2022 Mar-Apr;67(2):623-627.
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Epub 2021 Jan 30
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doi: 10.1016/j.survophthal.2021.01.013.
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<span class="bold">PMID: </span><a href="/pubmed/33524461" target="_blank">33524461</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/33691693">Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ma DJ,
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Lee HS,
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Kim K,
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Choi S,
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Jang I,
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Cho SH,
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Yoon CK,
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Lee EK,
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Yu HG</span><br />
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<span class="medgenPMjournal">BMC Med Genomics</span>
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<span class="bold">PMID: </span><a href="/pubmed/33691693" target="_blank">33691693</a><a href="/pmc/articles/PMC7945660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/32251237">INTRARETINAL HYPERREFLECTIVE LINES.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Amoroso F,
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Mrejen S,
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Pedinielli A,
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Tabary S,
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Souied EH,
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Gaudric A,
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<span class="medgenPMjournal">Retina</span>
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2021 Jan 1;41(1):82-92.
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<span class="bold">PMID: </span><a href="/pubmed/32251237" target="_blank">32251237</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/2190134">Best's vitelliform dystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Blodi CF,
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Stone EM</span><br />
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<span class="medgenPMjournal">Ophthalmic Paediatr Genet</span>
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1990 Mar;11(1):49-59.
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<span class="bold">PMID: </span><a href="/pubmed/2190134" target="_blank">2190134</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vitelliform%20macular%20dystrophy%201%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 (60)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38631656">Acquired Vitelliform Lesions in Intermediate Age-Related Macular Degeneration: A Cross Sectional Study.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Lindenberg S,
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Mahmoudi A,
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Oncel D,
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Corradetti G,
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Oncel D,
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Emamverdi M,
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Almidani L,
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Farahani A,
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Wakatsuki Y,
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He Y,
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Saju M S,
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<span class="medgenPMjournal">Ophthalmol Retina</span>
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2024 Sep;8(9):854-862.
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Epub 2024 Apr 16
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doi: 10.1016/j.oret.2024.04.009.
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<span class="bold">PMID: </span><a href="/pubmed/38631656" target="_blank">38631656</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/38278445">Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Laich Y,
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Georgiou M,
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Fujinami K,
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Daich Varela M,
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Fujinami-Yokokawa Y,
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Hashem SA,
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Cabral de Guimaraes TA,
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Mahroo OA,
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Webster AR,
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Michaelides M</span><br />
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<span class="medgenPMjournal">Ophthalmology</span>
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2024 Jul;131(7):845-854.
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Epub 2024 Jan 24
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doi: 10.1016/j.ophtha.2024.01.027.
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<span class="bold">PMID: </span><a href="/pubmed/38278445" target="_blank">38278445</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36156730">Clinical Correlation Between Optical Coherence Tomography Biomarkers and Retinal Sensitivity in Best Vitelliform Macular Dystrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Battaglia Parodi M,
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Bianco L,
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Arrigo A,
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Saladino A,
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Pina A,
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Aragona E,
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<span class="medgenPMjournal">Transl Vis Sci Technol</span>
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doi: 10.1167/tvst.11.9.24.
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<span class="bold">PMID: </span><a href="/pubmed/36156730" target="_blank">36156730</a><a href="/pmc/articles/PMC9526372" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/33691693">Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma DJ,
|
||
Lee HS,
|
||
Kim K,
|
||
Choi S,
|
||
Jang I,
|
||
Cho SH,
|
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Yoon CK,
|
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Lee EK,
|
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Yu HG</span><br />
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<span class="medgenPMjournal">BMC Med Genomics</span>
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2021 Mar 10;14(1):74.
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doi: 10.1186/s12920-021-00874-6.
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<span class="bold">PMID: </span><a href="/pubmed/33691693" target="_blank">33691693</a><a href="/pmc/articles/PMC7945660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28844323">Idiopathic Acute Exudative Polymorphous Vitelliform Maculopathy: Clinical Spectrum and Multimodal Imaging Characteristics.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Barbazetto I,
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Dansingani KK,
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Dolz-Marco R,
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Giovannini A,
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Piccolino FC,
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Agarwal A,
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Lima LH,
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Vianna RN,
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Yannuzzi LA</span><br />
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<span class="medgenPMjournal">Ophthalmology</span>
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2018 Jan;125(1):75-88.
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Epub 2017 Aug 23
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doi: 10.1016/j.ophtha.2017.07.020.
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<span class="bold">PMID: </span><a href="/pubmed/28844323" target="_blank">28844323</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vitelliform%20macular%20dystrophy%201%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 (72)</a></div></div>
|
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|
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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="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/30971815">Test performance of optical coherence tomography angiography in detecting retinal diseases: a systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faes L,
|
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Bodmer NS,
|
||
Locher S,
|
||
Keane PA,
|
||
Balaskas K,
|
||
Bachmann LM,
|
||
Schlingemann RO,
|
||
Schmid MK</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2019 Aug;33(8):1327-1338.
|
||
Epub 2019 Apr 10
|
||
doi: 10.1038/s41433-019-0421-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30971815" target="_blank">30971815</a><a href="/pmc/articles/PMC7005831" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vitelliform%20macular%20dystrophy%201%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 (1)</a></div></div>
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<div class="ralinkpop offscreen_noflow">IMPG1 interphotoreceptor matrix proteoglycan 1 [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:3617</div></div>
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