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<!--
|
||
UID=979022
|
||
ConceptID=CN295869
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Vitelliform macular dystrophy 3<span class="h1sub">(VMD3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>979022</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN295869</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>PRPH2 vitelliform macular dystrophy; PRPH2-Related Adult-Onset Vitelliform Macular Dystrophy; vitelliform macular dystrophy caused by mutation in PRPH2; VMD3</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="PRPH2 - ID: 5961 - NCBI Gene" href="/gene/5961" class="medgenPMinfo">PRPH2</a> (6p21.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0024561" target="_blank">MONDO:0024561</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/608161" target="_blank">608161</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></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="TLclosed"><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"><a href="/medgen/1636950" ref="tree=GTR&ncbi_uid=1636950&link_uid=1636950" title="View MedGen record for 'Vitelliform macular dystrophy 1'">Vitelliform macular dystrophy 1</a></span></li><li class="matched_ds"><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">Vitelliform macular dystrophy 3</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 3</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/34327816">Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nowomiejska K,
|
||
Nasser F,
|
||
Stingl K,
|
||
Schimpf-Linzenbold S,
|
||
Biskup S,
|
||
Brzozowska A,
|
||
Rejdak R,
|
||
Kohl S,
|
||
Zrenner E</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2022 May;100(3):e847-e858.
|
||
Epub 2021 Jul 29
|
||
doi: 10.1111/aos.14958.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34327816" target="_blank">34327816</a><a href="/pmc/articles/PMC9328113" 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/20381869">Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Booij JC,
|
||
Boon CJ,
|
||
van Schooneveld MJ,
|
||
ten Brink JB,
|
||
Bakker A,
|
||
de Jong PT,
|
||
Hoyng CB,
|
||
Bergen AA,
|
||
Klaver CC</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2010 Jul;117(7):1415-22.
|
||
Epub 2010 Apr 9
|
||
doi: 10.1016/j.ophtha.2009.11.044.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20381869" target="_blank">20381869</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(vitelliform%20macular%20dystrophy%203)%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 (5)</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/38066097">Retinal sensitivity and fundus autofluorescence in adult-onset foveomacular vitelliform dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujino R,
|
||
Inoue T,
|
||
Yanagi Y,
|
||
Maruyama-Inoue M,
|
||
Kadonosono K,
|
||
Obata R,
|
||
Asaoka R</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2023 Dec 8;13(1):21777.
|
||
doi: 10.1038/s41598-023-49256-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38066097" target="_blank">38066097</a><a href="/pmc/articles/PMC10709410" target="_blank" class="PubMedFree">Free PMC Article</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/25763552">Acute exudative polymorphous vitelliform maculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pichi F,
|
||
Ciardella AP,
|
||
Nucci P</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2015 Mar;133(3):e143510.
|
||
Epub 2015 Mar 12
|
||
doi: 10.1001/jamaophthalmol.2014.3510.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25763552" target="_blank">25763552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8720722">Adult-onset foveomacular vitelliform dystrophy and indocyanine green videoangiography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Battaglia Parodi M,
|
||
Iustulin D,
|
||
Russo D,
|
||
Ravalico G</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
1996 Mar;234(3):208-11.
|
||
doi: 10.1007/BF00462035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8720722" target="_blank">8720722</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vitelliform%20macular%20dystrophy%203%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 (86)</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/29853419">Atypical presentation of Best Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gutiérrez-Montero Ó,
|
||
Reche-Sainz JA,
|
||
Peral Ortiz de la Torre MJ,
|
||
Toledano-Fernández N</span><br />
|
||
<span class="medgenPMjournal">Arch Soc Esp Oftalmol (Engl Ed)</span>
|
||
2018 Sep;93(9):454-457.
|
||
Epub 2018 May 28
|
||
doi: 10.1016/j.oftal.2018.03.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29853419" target="_blank">29853419</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28941524">Juvenile Macular Degenerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Altschwager P,
|
||
Ambrosio L,
|
||
Swanson EA,
|
||
Moskowitz A,
|
||
Fulton AB</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2017 May;24(2):104-109.
|
||
Epub 2017 May 23
|
||
doi: 10.1016/j.spen.2017.05.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28941524" target="_blank">28941524</a><a href="/pmc/articles/PMC5709045" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25763552">Acute exudative polymorphous vitelliform maculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pichi F,
|
||
Ciardella AP,
|
||
Nucci P</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2015 Mar;133(3):e143510.
|
||
Epub 2015 Mar 12
|
||
doi: 10.1001/jamaophthalmol.2014.3510.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25763552" target="_blank">25763552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25314311">Best's vitelliform macular dystrophy in 10- and 31-month-old siblings.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Griffith JF,
|
||
Hess DJ,
|
||
Berrocal AM</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2014 Mar 4;51 Online:e8-e12.
|
||
doi: 10.3928/01913913-20140225-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25314311" target="_blank">25314311</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vitelliform%20macular%20dystrophy%203%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 (116)</a></div><h3 class="subhead">Therapy</h3>
|
||
<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/28718575">Best Vitelliform Macular Dystrophy In Afghan Twins.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kausar A,
|
||
Akhtar N</span><br />
|
||
<span class="medgenPMjournal">J Ayub Med Coll Abbottabad</span>
|
||
2016 Apr-Jun;28(2):404-406.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28718575" target="_blank">28718575</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24378427">Multimodal imaging in deferoxamine retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Viola F,
|
||
Barteselli G,
|
||
DellʼArti L,
|
||
Vezzola D,
|
||
Mapelli C,
|
||
Villani E,
|
||
Ratiglia R</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2014 Jul;34(7):1428-38.
|
||
doi: 10.1097/IAE.0000000000000073.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24378427" target="_blank">24378427</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21336073">Diagnostic and therapeutic challenges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ascaso FJ,
|
||
Rojo M,
|
||
Minguez E,
|
||
Cohen SM,
|
||
Yang SS</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2011 Mar;31(3):616-22.
|
||
doi: 10.1097/IAE.0b013e3181eac783.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21336073" target="_blank">21336073</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15187682">Treatment of cystoid macular edema with oral acetazolamide in a patient with best vitelliform macular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hori K,
|
||
Ishida S,
|
||
Inoue M,
|
||
Shinoda K,
|
||
Kawashima S,
|
||
Kitamura S,
|
||
Oguchi Y</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2004 Jun;24(3):481-2.
|
||
doi: 10.1097/00006982-200406000-00030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15187682" target="_blank">15187682</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vitelliform%20macular%20dystrophy%203%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 (25)</a></div><h3 class="subhead">Prognosis</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/36720370">Vitelliform maculopathy: Diverse etiologies originating from one common pathway.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iovino C,
|
||
Ramtohul P,
|
||
Au A,
|
||
Romero-Morales V,
|
||
Sadda S,
|
||
Freund KB,
|
||
Sarraf D</span><br />
|
||
<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2023 May-Jun;68(3):361-379.
|
||
Epub 2023 Jan 30
|
||
doi: 10.1016/j.survophthal.2023.01.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36720370" target="_blank">36720370</a></div>
|
||
|
||
<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,
|
||
Yoon CK,
|
||
Lee EK,
|
||
Yu HG</span><br />
|
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<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2021 Mar 10;14(1):74.
|
||
doi: 10.1186/s12920-021-00874-6.
|
||
<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/29065010">INTRARETINAL HYPERREFLECTIVE FOCI IN BEST VITELLIFORM MACULAR DYSTROPHY.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parodi MB,
|
||
Romano F,
|
||
Sacconi R,
|
||
Casati S,
|
||
Marchini G,
|
||
Bandello F,
|
||
Iacono P</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2018 Dec;38(12):2379-2386.
|
||
doi: 10.1097/IAE.0000000000001893.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29065010" target="_blank">29065010</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25763552">Acute exudative polymorphous vitelliform maculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pichi F,
|
||
Ciardella AP,
|
||
Nucci P</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2015 Mar;133(3):e143510.
|
||
Epub 2015 Mar 12
|
||
doi: 10.1001/jamaophthalmol.2014.3510.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25763552" target="_blank">25763552</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vitelliform%20macular%20dystrophy%203%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 (49)</a></div><h3 class="subhead">Clinical prediction guides</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/35973442">Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang Y,
|
||
Jiang Y,
|
||
Li X,
|
||
Xiao X,
|
||
Li S,
|
||
Sun W,
|
||
Wang P,
|
||
Zhang Q</span><br />
|
||
<span class="medgenPMjournal">Exp Eye Res</span>
|
||
2022 Oct;223:109217.
|
||
Epub 2022 Aug 13
|
||
doi: 10.1016/j.exer.2022.109217.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35973442" target="_blank">35973442</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/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,
|
||
Yoon CK,
|
||
Lee EK,
|
||
Yu HG</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genomics</span>
|
||
2021 Mar 10;14(1):74.
|
||
doi: 10.1186/s12920-021-00874-6.
|
||
<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/29853419">Atypical presentation of Best Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gutiérrez-Montero Ó,
|
||
Reche-Sainz JA,
|
||
Peral Ortiz de la Torre MJ,
|
||
Toledano-Fernández N</span><br />
|
||
<span class="medgenPMjournal">Arch Soc Esp Oftalmol (Engl Ed)</span>
|
||
2018 Sep;93(9):454-457.
|
||
Epub 2018 May 28
|
||
doi: 10.1016/j.oftal.2018.03.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29853419" target="_blank">29853419</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Vitelliform%20macular%20dystrophy%203%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 (49)</a></div></div>
|
||
</div>
|
||
|
||
<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/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,
|
||
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%203%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>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=CN295869%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=CN295869%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (5)</a></li>
|
||
<li><a href="/gtr/tests?term=CN295869%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=CN295869%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
|
||
</ul></div>
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=608161" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Vitelliform%20macular%20dystrophy%203" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=(vitelliform%20macular%20dystrophy%203)%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(%22Vitelliform%20macular%20dystrophy%203%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>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=179605" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5961[geneid]" target="_blank">View PRPH2 variations in ClinVar</a></li><li><a href="/nuccore/218563744" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=608161" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Vitelliform%20macular%20dystrophy%203" target="_blank">MedlinePlus</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Vitelliform%20macular%20dystrophy%203" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Vitelliform%20macular%20dystrophy%203%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
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||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=979022" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=979022" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=CN295869[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=CN295869[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=979022" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=979022" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=979022" ref="log$=recordlinks">PMC Articles</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in PubMed Central Links</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed&from_uid=979022" ref="log$=recordlinks">PubMed</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
|
||
<div class="portlet">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Recent activity</h3>
|
||
</div>
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Shutter"></a>
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<div class="portlet_content">
|
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<div id="HTDisplay" class="">
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<input name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.HistoryDisplay.Cmd" sid="1" type="hidden" />
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<div class="action">
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|
||
<li>
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||
<a class="text-white" href="https://www.nih.gov/">NIH</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.hhs.gov/">HHS</a>
|
||
</li>
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||
<li>
|
||
<a class="text-white" href="https://www.usa.gov/">USA.gov</a>
|
||
</li>
|
||
</ul>
|
||
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|
||
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|
||
</div>
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||
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