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<meta name="keywords" content="C3809567, adamts18, disease or syndrome, microcornea, myopic chorioretinal atrophy, and telecanthus, microcornea-myopic chorioretinal atrophy, microcornea-myopic chorioretinal atrophy-telecanthus syndrome, mmcat, mmcat syndrome, 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="Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=815897
|
||
ConceptID=C3809567
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Microcornea-myopic chorioretinal atrophy<span class="h1sub">(MMCAT)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815897</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:">C3809567</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>Microcornea, myopic chorioretinal atrophy, and telecanthus</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></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="ADAMTS18 - ID: 170692 - NCBI Gene" href="/gene/170692" class="medgenPMinfo">ADAMTS18</a> (16q23.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0014195" target="_blank">MONDO:0014195</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/615458" target="_blank">615458</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=369970">ORPHA369970</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Microcornea-myopic chorioretinal atrophy-telecanthus syndrome is rare, genetic, developmental defect of the eye disease characterized by childhood onset of mild to severe myopia with microcornea and chorioretinal atrophy, typically associated with telecanthus and posteriorly rotated ears. Other variable features include early-onset cataracts, ectopia lentis, ecotpia pupilae and retinal detachment. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_96566"><div><strong>Posteriorly rotated ears</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96566</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.">C0431478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/96566">Feature record</a> | <a href="/medgen?term=%22Posteriorly%20rotated%20ears%22%5BClinical%20Features%5D%20OR%2096566%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140836"><div><strong>Telecanthus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140836</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.">C0423113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140836">Feature record</a> | <a href="/medgen?term=%22Telecanthus%22%5BClinical%20Features%5D%20OR%20140836%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_140869"><div><strong>Wide nose</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140869</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.">C0426421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/140869">Feature record</a> | <a href="/medgen?term=%22Wide%20nose%22%5BClinical%20Features%5D%20OR%20140869%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98424"><div><strong>Broad nasal tip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98424</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.">C0426429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increase in width of the nasal tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98424">Feature record</a> | <a href="/medgen?term=%22Broad%20nasal%20tip%22%5BClinical%20Features%5D%20OR%2098424%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44558"><div><strong>Myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44558</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.">C0027092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44558">Feature record</a> | <a href="/medgen?term=%22Myopia%22%5BClinical%20Features%5D%20OR%2044558%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78610"><div><strong>Microcornea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78610</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.">C0266544</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78610">Feature record</a> | <a href="/medgen?term=%22Microcornea%22%5BClinical%20Features%5D%20OR%2078610%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99273"><div><strong>Chorioretinal degeneration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99273</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.">C0521683</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99273">Feature record</a> | <a href="/medgen?term=%22Chorioretinal%20degeneration%22%5BClinical%20Features%5D%20OR%2099273%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163646"><div><strong>Posterior subcapsular cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163646</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.">C0858617</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Posterior%20subcapsular%20cataract%22%5BClinical%20Features%5D%20OR%20163646%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Broad nasal tip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140836" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Telecanthus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_140869" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wide nose</a></span></li></ul></li><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_99273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chorioretinal degeneration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78610" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcornea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44558" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163646" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posterior subcapsular cataract</a></span></li></ul></li><li><span class="TLline">Ear malformation</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_96566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posteriorly rotated ears</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/38663712">Gyrate atrophy of the choroid and retina: Update on diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Merino Diez MT,
|
||
Soria Prada C,
|
||
Zamorano Aleixandre M,
|
||
Gonzalez-Lopez JJ</span><br />
|
||
<span class="medgenPMjournal">Arch Soc Esp Oftalmol (Engl Ed)</span>
|
||
2024 Sep;99(9):392-399.
|
||
Epub 2024 Apr 23
|
||
doi: 10.1016/j.oftale.2024.04.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38663712" target="_blank">38663712</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30255668">Diagnosis and Treatment of Myopic Maculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yokoi T,
|
||
Ohno-Matsui K</span><br />
|
||
<span class="medgenPMjournal">Asia Pac J Ophthalmol (Phila)</span>
|
||
2018 Nov-Dec;7(6):415-421.
|
||
Epub 2018 Sep 26
|
||
doi: 10.22608/APO.2018290.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30255668" target="_blank">30255668</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24990871">Myopic choroidal neovascularisation: current concepts and update on clinical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wong TY,
|
||
Ohno-Matsui K,
|
||
Leveziel N,
|
||
Holz FG,
|
||
Lai TY,
|
||
Yu HG,
|
||
Lanzetta P,
|
||
Chen Y,
|
||
Tufail A</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2015 Mar;99(3):289-96.
|
||
Epub 2014 Jul 1
|
||
doi: 10.1136/bjophthalmol-2014-305131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24990871" target="_blank">24990871</a><a href="/pmc/articles/PMC4345796" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(microcornea-myopic%20chorioretinal%20atrophy)%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 (34)</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/34257060">Mitochondrial Retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
|
||
von Landenberg C,
|
||
Gliem M,
|
||
Gliem C,
|
||
Reimann J,
|
||
Kunz WS,
|
||
Herrmann P,
|
||
Betz C,
|
||
Caswell R,
|
||
Nesbitt V,
|
||
Kornblum C,
|
||
Charbel Issa P</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2022 Jan;6(1):65-79.
|
||
Epub 2021 Jul 10
|
||
doi: 10.1016/j.oret.2021.02.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34257060" target="_blank">34257060</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34255599">Didanosine-induced Retinopathy: New Insights with Long-term Follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Faure C,
|
||
Chassery M,
|
||
Ores R,
|
||
Audo I</span><br />
|
||
<span class="medgenPMjournal">Ocul Immunol Inflamm</span>
|
||
2022 Oct-Nov;30(7-8):1625-1632.
|
||
Epub 2021 Jul 13
|
||
doi: 10.1080/09273948.2021.1927117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34255599" target="_blank">34255599</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31237061">Subacute sclerosing panencephalitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garg RK,
|
||
Mahadevan A,
|
||
Malhotra HS,
|
||
Rizvi I,
|
||
Kumar N,
|
||
Uniyal R</span><br />
|
||
<span class="medgenPMjournal">Rev Med Virol</span>
|
||
2019 Sep;29(5):e2058.
|
||
Epub 2019 Jun 24
|
||
doi: 10.1002/rmv.2058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31237061" target="_blank">31237061</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25634530">International photographic classification and grading system for myopic maculopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ohno-Matsui K,
|
||
Kawasaki R,
|
||
Jonas JB,
|
||
Cheung CM,
|
||
Saw SM,
|
||
Verhoeven VJ,
|
||
Klaver CC,
|
||
Moriyama M,
|
||
Shinohara K,
|
||
Kawasaki Y,
|
||
Yamazaki M,
|
||
Meuer S,
|
||
Ishibashi T,
|
||
Yasuda M,
|
||
Yamashita H,
|
||
Sugano A,
|
||
Wang JJ,
|
||
Mitchell P,
|
||
Wong TY;
|
||
META-analysis for Pathologic Myopia (META-PM) Study Group</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2015 May;159(5):877-83.e7.
|
||
Epub 2015 Jan 26
|
||
doi: 10.1016/j.ajo.2015.01.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25634530" target="_blank">25634530</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4051378">Inflammatory pseudohistoplasmosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deutsch TA,
|
||
Tessler HH</span><br />
|
||
<span class="medgenPMjournal">Ann Ophthalmol</span>
|
||
1985 Aug;17(8):461-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4051378" target="_blank">4051378</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microcornea-myopic%20chorioretinal%20atrophy%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 (443)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35980398">Pigmented Paravenous Chorioretinal Atrophy With Macular Hole.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xiang W,
|
||
Wei Y</span><br />
|
||
<span class="medgenPMjournal">JAMA Ophthalmol</span>
|
||
2022 Aug 1;140(8):e222437.
|
||
Epub 2022 Aug 18
|
||
doi: 10.1001/jamaophthalmol.2022.2437.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35980398" target="_blank">35980398</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34257060">Mitochondrial Retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Birtel J,
|
||
von Landenberg C,
|
||
Gliem M,
|
||
Gliem C,
|
||
Reimann J,
|
||
Kunz WS,
|
||
Herrmann P,
|
||
Betz C,
|
||
Caswell R,
|
||
Nesbitt V,
|
||
Kornblum C,
|
||
Charbel Issa P</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Retina</span>
|
||
2022 Jan;6(1):65-79.
|
||
Epub 2021 Jul 10
|
||
doi: 10.1016/j.oret.2021.02.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34257060" target="_blank">34257060</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34708738">Asymmetric diabetic retinopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Azad R,
|
||
Sinha S,
|
||
Nishant P</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2021 Nov;69(11):3026-3034.
|
||
doi: 10.4103/ijo.IJO_1525_21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34708738" target="_blank">34708738</a><a href="/pmc/articles/PMC8725155" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31237061">Subacute sclerosing panencephalitis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garg RK,
|
||
Mahadevan A,
|
||
Malhotra HS,
|
||
Rizvi I,
|
||
Kumar N,
|
||
Uniyal R</span><br />
|
||
<span class="medgenPMjournal">Rev Med Virol</span>
|
||
2019 Sep;29(5):e2058.
|
||
Epub 2019 Jun 24
|
||
doi: 10.1002/rmv.2058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31237061" target="_blank">31237061</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4051378">Inflammatory pseudohistoplasmosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deutsch TA,
|
||
Tessler HH</span><br />
|
||
<span class="medgenPMjournal">Ann Ophthalmol</span>
|
||
1985 Aug;17(8):461-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4051378" target="_blank">4051378</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microcornea-myopic%20chorioretinal%20atrophy%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 (558)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37517683">Pathogenesis of myopic choroidal neovascularization: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang XJ,
|
||
Chen XN,
|
||
Tang FY,
|
||
Szeto S,
|
||
Ling XT,
|
||
Lin ZX,
|
||
Tham CC,
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Garg RK,
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Mahadevan A,
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<div class="portlet_content ln"><span class="medgenPMauthor">Faure C,
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Chassery M,
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Ores R,
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Audo I</span><br />
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/37517683">Pathogenesis of myopic choroidal neovascularization: A systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhang XJ,
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Chen XN,
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Tang FY,
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Szeto S,
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Ling XT,
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Lin ZX,
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Tham CC,
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Pang CP,
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Chen LJ,
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Yam JC</span><br />
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<span class="medgenPMjournal">Surv Ophthalmol</span>
|
||
2023 Nov-Dec;68(6):1011-1026.
|
||
Epub 2023 Jul 28
|
||
doi: 10.1016/j.survophthal.2023.07.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37517683" target="_blank">37517683</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/30591235">Neurological Complications of Congenital Zika Virus Infection.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Marques VM,
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Santos CS,
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Santiago IG,
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Marques SM,
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Nunes Brasil MDG,
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Lima TT,
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Costa PS</span><br />
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<span class="medgenPMjournal">Pediatr Neurol</span>
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<span class="bold">PMID: </span><a href="/pubmed/30591235" target="_blank">30591235</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26771164">Doxycycline plus ivermectin versus ivermectin alone for treatment of patients with onchocerciasis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Abegunde AT,
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<div class="nl"><a target="_blank" href="/pubmed/24187047">Ocular side effects following intravitreal injection therapy for retinoblastoma: a systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Smith SJ,
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<span class="bold">PMID: </span><a href="/pubmed/24187047" target="_blank">24187047</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/19098033">Late-onset retinal macular degeneration: clinical insights into an inherited retinal degeneration.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Borooah S,
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Collins C,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microcornea-myopic%20chorioretinal%20atrophy%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 (9)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3809567%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809567%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C3809567%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3809567%5bDISCUI%5d" target="_blank">See all (15)</a></total></li>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc4369b15b832ebc752898">Microcornea-myopic chorioretinal atrophy</a>
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