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<meta name="keywords" content="C3809798, agbl1, agbl1 fuchs' endothelial dystrophy, corneal dystrophy, fuchs endothelial, 8, corneal dystrophy, fuchs endothelial, type 8, disease or syndrome, fecd8, fuchs' endothelial dystrophy caused by mutation in agbl1, 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="Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of FECD, see FECD1 (136800)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=816128
|
||
ConceptID=C3809798
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Corneal dystrophy, Fuchs endothelial, 8<span class="h1sub">(FECD8)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816128</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C3809798</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>FECD8</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="AGBL1 - ID: 123624 - NCBI Gene" href="/gene/123624" class="medgenPMinfo">AGBL1</a> (15q25.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014228" target="_blank">MONDO:0014228</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615523" target="_blank">615523</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">Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of FECD, see FECD1 (136800). [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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||
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<div class="portlet mgSection" id="ID_117">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights.<br /><br />Fuchs endothelial dystrophy specifically affects the front surface of the eye called the cornea. Deposits called guttae, which are detectable during an eye exam, form in the middle of the cornea and eventually spread throughout the cornea. These guttae contribute to the ongoing cell death within the cornea, leading to worsening vision problems. Tiny blisters may develop on the cornea, which can burst and cause eye pain.<br /><br />The signs and symptoms of Fuchs endothelial dystrophy usually begin in a person's forties or fifties. A very rare early-onset variant of this condition starts to affect vision in a person's twenties. <a target="_blank" href="https://medlineplus.gov/genetics/condition/fuchs-endothelial-dystrophy">https://medlineplus.gov/genetics/condition/fuchs-endothelial-dystrophy</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_3619"><div><strong>Corneal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3619</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.">C0010036</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3619">Feature record</a> | <a href="/medgen?term=%22Corneal%20dystrophy%22%5BClinical%20Features%5D%20OR%203619%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_488833"><div><strong>Corneal guttata</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488833</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.">C0271288</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/488833">Feature record</a> | <a href="/medgen?term=%22Corneal%20guttata%22%5BClinical%20Features%5D%20OR%20488833%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_3619" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal dystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488833" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal guttata</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35999622">Ability of routinely collected clinical factors to predict good visual results after primary Descemet membrane endothelial keratoplasty: a cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bloch F,
|
||
Dinot V,
|
||
Goetz C,
|
||
Zevering Y,
|
||
Lhuillier L,
|
||
Perone JM</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2022 Aug 24;22(1):350.
|
||
doi: 10.1186/s12886-022-02574-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35999622" target="_blank">35999622</a><a href="/pmc/articles/PMC9400293" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31033605">Treatment Limitations With PROSE (Prosthetic Replacement of the Ocular Surface Ecosystem): One Centers Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schear MJ,
|
||
Ibrahim K,
|
||
Winokur J,
|
||
Busuioc C,
|
||
Udell I,
|
||
Steiner A</span><br />
|
||
<span class="medgenPMjournal">Eye Contact Lens</span>
|
||
2019 Sep;45(5):315-317.
|
||
doi: 10.1097/ICL.0000000000000610.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31033605" target="_blank">31033605</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24390401">Is cyclophotocoagulation an option in the management of glaucoma secondary to Fuchs' uveitis syndrome?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Voykov B,
|
||
Deuter C,
|
||
Zierhut M,
|
||
Leitritz MA,
|
||
Guenova E,
|
||
Doycheva D</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2014 Mar;252(3):485-9.
|
||
Epub 2014 Jan 5
|
||
doi: 10.1007/s00417-013-2558-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24390401" target="_blank">24390401</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(corneal%20dystrophy%2C%20fuchs%20endothelial%2C%208)%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 (4)</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/35932840">Predictors of Receiving Keratoplasty for Fuchs' Endothelial Corneal Dystrophy among Medicare Beneficiaries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heckenlaible NJ,
|
||
Dun C,
|
||
Prescott C,
|
||
Eghrari AO,
|
||
Woreta F,
|
||
Makary MA,
|
||
Srikumaran D</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2023 Jan;130(1):28-38.
|
||
Epub 2022 Aug 3
|
||
doi: 10.1016/j.ophtha.2022.07.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35932840" target="_blank">35932840</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34879044">Descemetorhexis Without Endothelial Keratoplasty in Fuchs Endothelial Corneal Dystrophy: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Franceschino A,
|
||
Dutheil F,
|
||
Pereira B,
|
||
Watson SL,
|
||
Chiambaretta F,
|
||
Navel V</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2022 Jul 1;41(7):815-825.
|
||
Epub 2021 Dec 7
|
||
doi: 10.1097/ICO.0000000000002855.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34879044" target="_blank">34879044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34743257">Demographic profile and clinical course of Fuchs endothelial corneal dystrophy in Mexican patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barrera-Sanchez M,
|
||
Hernandez-Camarena JC,
|
||
Ruiz-Lozano RE,
|
||
Valdez-Garcia JE,
|
||
Rodriguez-Garcia A</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2022 Apr;42(4):1299-1309.
|
||
Epub 2021 Nov 7
|
||
doi: 10.1007/s10792-021-02117-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34743257" target="_blank">34743257</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26087656">Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li D,
|
||
Peng X,
|
||
Sun H</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2015 Jun 19;15:61.
|
||
doi: 10.1186/s12886-015-0055-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26087656" target="_blank">26087656</a><a href="/pmc/articles/PMC4474332" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24526345">Endothelial keratoplasty versus penetrating keratoplasty for Fuchs endothelial dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nanavaty MA,
|
||
Wang X,
|
||
Shortt AJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2014 Feb 14;2014(2):CD008420.
|
||
doi: 10.1002/14651858.CD008420.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24526345" target="_blank">24526345</a><a href="/pmc/articles/PMC4260402" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Corneal%20dystrophy%2C%20Fuchs%20endothelial%2C%208%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 (423)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35932840">Predictors of Receiving Keratoplasty for Fuchs' Endothelial Corneal Dystrophy among Medicare Beneficiaries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heckenlaible NJ,
|
||
Dun C,
|
||
Prescott C,
|
||
Eghrari AO,
|
||
Woreta F,
|
||
Makary MA,
|
||
Srikumaran D</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2023 Jan;130(1):28-38.
|
||
Epub 2022 Aug 3
|
||
doi: 10.1016/j.ophtha.2022.07.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35932840" target="_blank">35932840</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34743257">Demographic profile and clinical course of Fuchs endothelial corneal dystrophy in Mexican patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barrera-Sanchez M,
|
||
Hernandez-Camarena JC,
|
||
Ruiz-Lozano RE,
|
||
Valdez-Garcia JE,
|
||
Rodriguez-Garcia A</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2022 Apr;42(4):1299-1309.
|
||
Epub 2021 Nov 7
|
||
doi: 10.1007/s10792-021-02117-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34743257" target="_blank">34743257</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33359556">Descemet Endothelial Thickness Comparison Trial: Two-Year Results from a Randomized Trial Comparing Ultrathin Descemet Stripping Automated Endothelial Keratoplasty with Descemet Membrane Endothelial Keratoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rose-Nussbaumer J,
|
||
Lin CC,
|
||
Austin A,
|
||
Liu Z,
|
||
Clover J,
|
||
McLeod SD,
|
||
Porco TC,
|
||
Lietman TM,
|
||
Dresner SM,
|
||
Benetz BA,
|
||
Lass JH,
|
||
Chamberlain WD</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2021 Aug;128(8):1238-1240.
|
||
Epub 2020 Dec 25
|
||
doi: 10.1016/j.ophtha.2020.12.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33359556" target="_blank">33359556</a><a href="/pmc/articles/PMC8225709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32703382">Peripheral Endothelial Radial Lines in Fuchs Endothelial Dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharp JAH,
|
||
Matsou A,
|
||
Stanojcic N</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2020 Aug;127(8):1019.
|
||
doi: 10.1016/j.ophtha.2020.03.038.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32703382" target="_blank">32703382</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24526345">Endothelial keratoplasty versus penetrating keratoplasty for Fuchs endothelial dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nanavaty MA,
|
||
Wang X,
|
||
Shortt AJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2014 Feb 14;2014(2):CD008420.
|
||
doi: 10.1002/14651858.CD008420.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24526345" target="_blank">24526345</a><a href="/pmc/articles/PMC4260402" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Corneal%20dystrophy%2C%20Fuchs%20endothelial%2C%208%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 (180)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37914389">Descemet membrane endothelial keratoplasty compared with ultrathin Descemet stripping automated endothelial keratoplasty: a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sela TC,
|
||
Iflah M,
|
||
Muhsen K,
|
||
Zahavi A</span><br />
|
||
<span class="medgenPMjournal">BMJ Open Ophthalmol</span>
|
||
2023 Nov;8(1)
|
||
doi: 10.1136/bmjophth-2023-001397.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37914389" target="_blank">37914389</a><a href="/pmc/articles/PMC10626808" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34879044">Descemetorhexis Without Endothelial Keratoplasty in Fuchs Endothelial Corneal Dystrophy: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Franceschino A,
|
||
Dutheil F,
|
||
Pereira B,
|
||
Watson SL,
|
||
Chiambaretta F,
|
||
Navel V</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2022 Jul 1;41(7):815-825.
|
||
Epub 2021 Dec 7
|
||
doi: 10.1097/ICO.0000000000002855.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34879044" target="_blank">34879044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33359556">Descemet Endothelial Thickness Comparison Trial: Two-Year Results from a Randomized Trial Comparing Ultrathin Descemet Stripping Automated Endothelial Keratoplasty with Descemet Membrane Endothelial Keratoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rose-Nussbaumer J,
|
||
Lin CC,
|
||
Austin A,
|
||
Liu Z,
|
||
Clover J,
|
||
McLeod SD,
|
||
Porco TC,
|
||
Lietman TM,
|
||
Dresner SM,
|
||
Benetz BA,
|
||
Lass JH,
|
||
Chamberlain WD</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2021 Aug;128(8):1238-1240.
|
||
Epub 2020 Dec 25
|
||
doi: 10.1016/j.ophtha.2020.12.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33359556" target="_blank">33359556</a><a href="/pmc/articles/PMC8225709" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26087656">Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li D,
|
||
Peng X,
|
||
Sun H</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2015 Jun 19;15:61.
|
||
doi: 10.1186/s12886-015-0055-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26087656" target="_blank">26087656</a><a href="/pmc/articles/PMC4474332" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24526345">Endothelial keratoplasty versus penetrating keratoplasty for Fuchs endothelial dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nanavaty MA,
|
||
Wang X,
|
||
Shortt AJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2014 Feb 14;2014(2):CD008420.
|
||
doi: 10.1002/14651858.CD008420.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24526345" target="_blank">24526345</a><a href="/pmc/articles/PMC4260402" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Corneal%20dystrophy%2C%20Fuchs%20endothelial%2C%208%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 (151)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37921677">Descemet Stripping Only: Long-Term Outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hakim FE,
|
||
Nagra AK,
|
||
Dhaliwal DK</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2024 Aug 1;43(8):994-998.
|
||
Epub 2023 Oct 31
|
||
doi: 10.1097/ICO.0000000000003421.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37921677" target="_blank">37921677</a><a href="/pmc/articles/PMC11058104" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35932840">Predictors of Receiving Keratoplasty for Fuchs' Endothelial Corneal Dystrophy among Medicare Beneficiaries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heckenlaible NJ,
|
||
Dun C,
|
||
Prescott C,
|
||
Eghrari AO,
|
||
Woreta F,
|
||
Makary MA,
|
||
Srikumaran D</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2023 Jan;130(1):28-38.
|
||
Epub 2022 Aug 3
|
||
doi: 10.1016/j.ophtha.2022.07.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35932840" target="_blank">35932840</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35122501">Five-year follow-up of corneal morphology and corneal refractive power changes after uneventful DMEK.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lazaridis A,
|
||
Spiru B,
|
||
Giallouros E,
|
||
Sekundo W,
|
||
Schroeder FM,
|
||
Messerschmidt-Roth A,
|
||
Droutsas K</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2022 Jul;260(7):2309-2319.
|
||
Epub 2022 Feb 5
|
||
doi: 10.1007/s00417-022-05571-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35122501" target="_blank">35122501</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34743257">Demographic profile and clinical course of Fuchs endothelial corneal dystrophy in Mexican patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barrera-Sanchez M,
|
||
Hernandez-Camarena JC,
|
||
Ruiz-Lozano RE,
|
||
Valdez-Garcia JE,
|
||
Rodriguez-Garcia A</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2022 Apr;42(4):1299-1309.
|
||
Epub 2021 Nov 7
|
||
doi: 10.1007/s10792-021-02117-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34743257" target="_blank">34743257</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20964980">Fuchs endothelial corneal dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Elhalis H,
|
||
Azizi B,
|
||
Jurkunas UV</span><br />
|
||
<span class="medgenPMjournal">Ocul Surf</span>
|
||
2010 Oct;8(4):173-84.
|
||
doi: 10.1016/s1542-0124(12)70232-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20964980" target="_blank">20964980</a><a href="/pmc/articles/PMC3061348" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Corneal%20dystrophy%2C%20Fuchs%20endothelial%2C%208%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 (193)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36731082">Descemet Stripping Without Endothelial Keratoplasty in Early-Stage Central Fuchs Endothelial Dystrophy: Long-term Results.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vieira R,
|
||
Castro C,
|
||
Coelho J,
|
||
Mesquita Neves M,
|
||
Gomes M,
|
||
Oliveira L</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2023 Aug 1;42(8):980-985.
|
||
Epub 2022 Sep 16
|
||
doi: 10.1097/ICO.0000000000003131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36731082" target="_blank">36731082</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36727349">Demographic profile and clinical characteristics of Fuchs' endothelial corneal dystrophy in a tertiary eye care center.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhadra P,
|
||
Sahoo S,
|
||
Sahu SK,
|
||
Priyadarshini S,
|
||
Mohanty A,
|
||
Das S</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2023 Feb;71(2):505-509.
|
||
doi: 10.4103/ijo.IJO_1288_22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36727349" target="_blank">36727349</a><a href="/pmc/articles/PMC10228915" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35932840">Predictors of Receiving Keratoplasty for Fuchs' Endothelial Corneal Dystrophy among Medicare Beneficiaries.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Heckenlaible NJ,
|
||
Dun C,
|
||
Prescott C,
|
||
Eghrari AO,
|
||
Woreta F,
|
||
Makary MA,
|
||
Srikumaran D</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2023 Jan;130(1):28-38.
|
||
Epub 2022 Aug 3
|
||
doi: 10.1016/j.ophtha.2022.07.030.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35932840" target="_blank">35932840</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34743257">Demographic profile and clinical course of Fuchs endothelial corneal dystrophy in Mexican patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barrera-Sanchez M,
|
||
Hernandez-Camarena JC,
|
||
Ruiz-Lozano RE,
|
||
Valdez-Garcia JE,
|
||
Rodriguez-Garcia A</span><br />
|
||
<span class="medgenPMjournal">Int Ophthalmol</span>
|
||
2022 Apr;42(4):1299-1309.
|
||
Epub 2021 Nov 7
|
||
doi: 10.1007/s10792-021-02117-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34743257" target="_blank">34743257</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34509435">Scheimpflug Backscatter Imaging of the Fibrillar Layer in Fuchs Endothelial Corneal Dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hribek A,
|
||
Mestanoglu M,
|
||
Clahsen T,
|
||
Reinking N,
|
||
Frentzen F,
|
||
Howaldt A,
|
||
Siebelmann S,
|
||
Bachmann BO,
|
||
Cursiefen C,
|
||
Matthaei M</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2022 Mar;235:63-70.
|
||
Epub 2021 Sep 10
|
||
doi: 10.1016/j.ajo.2021.08.019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34509435" target="_blank">34509435</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Corneal%20dystrophy%2C%20Fuchs%20endothelial%2C%208%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 (147)</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/34879044">Descemetorhexis Without Endothelial Keratoplasty in Fuchs Endothelial Corneal Dystrophy: A Systematic Review and Meta-Analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Franceschino A,
|
||
Dutheil F,
|
||
Pereira B,
|
||
Watson SL,
|
||
Chiambaretta F,
|
||
Navel V</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2022 Jul 1;41(7):815-825.
|
||
Epub 2021 Dec 7
|
||
doi: 10.1097/ICO.0000000000002855.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34879044" target="_blank">34879044</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34709453">Pediatric endothelial keratoplasty: a systematic review and individual participant data meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mohebbi M,
|
||
Mehrpour M,
|
||
Sanij AD,
|
||
Mohammadi N,
|
||
Mirghorbani M</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
2022 Apr;260(4):1069-1082.
|
||
Epub 2021 Oct 28
|
||
doi: 10.1007/s00417-021-05459-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34709453" target="_blank">34709453</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27336399">Changing Indications in Penetrating Keratoplasty: A Systematic Review of 34 Years of Global Reporting.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matthaei M,
|
||
Sandhaeger H,
|
||
Hermel M,
|
||
Adler W,
|
||
Jun AS,
|
||
Cursiefen C,
|
||
Heindl LM</span><br />
|
||
<span class="medgenPMjournal">Transplantation</span>
|
||
2017 Jun;101(6):1387-1399.
|
||
doi: 10.1097/TP.0000000000001281.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27336399" target="_blank">27336399</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26087656">Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li D,
|
||
Peng X,
|
||
Sun H</span><br />
|
||
<span class="medgenPMjournal">BMC Ophthalmol</span>
|
||
2015 Jun 19;15:61.
|
||
doi: 10.1186/s12886-015-0055-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26087656" target="_blank">26087656</a><a href="/pmc/articles/PMC4474332" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24526345">Endothelial keratoplasty versus penetrating keratoplasty for Fuchs endothelial dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nanavaty MA,
|
||
Wang X,
|
||
Shortt AJ</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2014 Feb 14;2014(2):CD008420.
|
||
doi: 10.1002/14651858.CD008420.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24526345" target="_blank">24526345</a><a href="/pmc/articles/PMC4260402" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Corneal%20dystrophy%2C%20Fuchs%20endothelial%2C%208%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 (7)</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 -->
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||
<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<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_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>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3809798%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809798%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809798%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3809798%5bDISCUI%5d" target="_blank">See all (4)</a></total></li>
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</ul></div>
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</div>
|
||
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||
<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=615523" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Corneal%20dystrophy,%20Fuchs%20endothelial,%208" 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=(corneal%20dystrophy%2C%20fuchs%20endothelial%2C%208)%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></ul></div>
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|
||
<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=615496" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=123624[geneid]" target="_blank">View AGBL1 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=615523" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
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|
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<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>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/corneal_dystrophy_fuchs_endothelial_8" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Corneal%20dystrophy,%20Fuchs%20endothelial,%208" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/fuchs-endothelial-dystrophy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18223/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
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<h3>Reviews</h3>
|
||
</div>
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<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>
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||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Corneal%20dystrophy,%20Fuchs%20endothelial,%208" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Corneal%20dystrophy,%20Fuchs%20endothelial,%208%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">
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||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
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||
</div>
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||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=816128" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=816128" ref="log$=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=C3809798[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C3809798[DISCUI]&test_type=Clinical" ref="log$=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=816128" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=816128" ref="log$=recordlinks">OMIM(Genes)</a>
|
||
<div class="brieflinkpop offscreen_noflow">OMIM records containing genes associated with phenotypes registered in MedGen</div>
|
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