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<meta name="keywords" content="C3150757, disease or syndrome, isolated microphthalmia 6, isolated microphthalmia caused by mutation in prss56, isolated microphthalmia type 6, mcop6, microphthalmia, isolated 6, microphthalmia, isolated type 6, microphthalmia, posterior nonsyndromic, posterior nonsyndromic microphthalmia, prss56, prss56 isolated microphthalmia, 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="Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 mm to 20 mm; normal is greater than 21 mm). Other features include an essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. The palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical discs, tortuous vessels, and an abnormal foveal avascular zone; in addition, papillomacular folds are often reported. Morphometric features of the small eyes predispose to complications such as narrow-angle glaucoma and uveal effusion (summary by Gal et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 (251600)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=462107
|
||
ConceptID=C3150757
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Isolated microphthalmia 6<span class="h1sub">(MCOP6)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462107</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:">C3150757</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>MICROPHTHALMIA, POSTERIOR NONSYNDROMIC</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="PRSS56 - ID: 646960 - NCBI Gene" href="/gene/646960" class="medgenPMinfo">PRSS56</a> (2q37.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013293" target="_blank">MONDO:0013293</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613517" target="_blank">613517</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">Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 mm to 20 mm; normal is greater than 21 mm). Other features include an essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. The palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical discs, tortuous vessels, and an abnormal foveal avascular zone; in addition, papillomacular folds are often reported. Morphometric features of the small eyes predispose to complications such as narrow-angle glaucoma and uveal effusion (summary by Gal et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of isolated microphthalmia, see MCOP1 (251600). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_8009"><div><strong>Amblyopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8009</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.">C0002418</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8009">Feature record</a> | <a href="/medgen?term=%22Amblyopia%22%5BClinical%20Features%5D%20OR%208009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10033"><div><strong>Microphthalmia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10033</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.">C0026010</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10033">Feature record</a> | <a href="/medgen?term=%22Microphthalmia%22%5BClinical%20Features%5D%20OR%2010033%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115826"><div><strong>Retinal fold</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115826</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.">C0229197</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115826">Feature record</a> | <a href="/medgen?term=%22Retinal%20fold%22%5BClinical%20Features%5D%20OR%20115826%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68606"><div><strong>Raised intraocular pressure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68606</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.">C0234708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intraocular pressure that is 2 standard deviations above the population mean.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68606">Feature record</a> | <a href="/medgen?term=%22Raised%20intraocular%20pressure%22%5BClinical%20Features%5D%20OR%2068606%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_341009"><div><strong>Hyperopia, high</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341009</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.">C1855925</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe form of hypermetropia with over +5.00 diopters.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341009">Feature record</a> | <a href="/medgen?term=%22Hyperopia%2C%20high%22%5BClinical%20Features%5D%20OR%20341009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_393147"><div><strong>Scleral thickening</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>393147</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.">C2674403</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased dimension of the sclera in the anterior-posterior axis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/393147">Feature record</a> | <a href="/medgen?term=%22Scleral%20thickening%22%5BClinical%20Features%5D%20OR%20393147%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_8009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amblyopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_341009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperopia, high</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_10033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68606" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Raised intraocular pressure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115826" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal fold</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_393147" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scleral thickening</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/40038803">Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Russo M,
|
||
Palmeri S,
|
||
Zucconi A,
|
||
Vagge A,
|
||
Arioni C</span><br />
|
||
<span class="medgenPMjournal">Ital J Pediatr</span>
|
||
2025 Mar 5;51(1):65.
|
||
doi: 10.1186/s13052-025-01882-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/40038803" target="_blank">40038803</a><a href="/pmc/articles/PMC11881466" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38528322">Prevalence and prenatal diagnosis of congenital eye anomalies: A population-based study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maillet C,
|
||
Guilbaud L,
|
||
Monier I,
|
||
Khoshnood B,
|
||
Quoc EB,
|
||
Dugas A,
|
||
Lelong N,
|
||
Jouannic JM</span><br />
|
||
<span class="medgenPMjournal">BJOG</span>
|
||
2024 Sep;131(10):1385-1391.
|
||
Epub 2024 Mar 25
|
||
doi: 10.1111/1471-0528.17817.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38528322" target="_blank">38528322</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33728625">Prenatal Diagnosis of Congenital Cataract: Sonographic Features and Perinatal Outcome in 41 Cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Qin Y,
|
||
Zhong X,
|
||
Wen H,
|
||
Zeng Q,
|
||
Liao Y,
|
||
Luo D,
|
||
Liang M,
|
||
Tang Y,
|
||
Guo J,
|
||
Cao H,
|
||
Yang S,
|
||
Tian X,
|
||
Luo G,
|
||
Li S</span><br />
|
||
<span class="medgenPMjournal">Ultraschall Med</span>
|
||
2022 Dec;43(6):e125-e134.
|
||
Epub 2021 Mar 16
|
||
doi: 10.1055/a-1320-0799.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33728625" target="_blank">33728625</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(isolated%20microphthalmia%206)%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/37493047">Cryptophthalmos: associated syndromes and genetic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landau-Prat D,
|
||
Kim DH,
|
||
Bautista S,
|
||
Strong A,
|
||
Revere KE,
|
||
Katowitz WR,
|
||
Katowitz JA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2023 Dec;44(6):547-552.
|
||
Epub 2023 Jul 26
|
||
doi: 10.1080/13816810.2023.2237568.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37493047" target="_blank">37493047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36595661">Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albakri A,
|
||
Pisuchpen P,
|
||
Capasso JE,
|
||
Schneider A,
|
||
Kopinsky S,
|
||
Glaser T,
|
||
Chiang JP,
|
||
Yomai AA,
|
||
McNear D,
|
||
Levin AV</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Apr;191(4):1007-1012.
|
||
Epub 2023 Jan 3
|
||
doi: 10.1002/ajmg.a.63108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36595661" target="_blank">36595661</a><a href="/pmc/articles/PMC10262898" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35105264">Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fahnehjelm C,
|
||
Dafgård Kopp E,
|
||
Wincent J,
|
||
Güven E,
|
||
Nilsson M,
|
||
Olsson M,
|
||
Teär Fahnehjelm K</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2022 Apr;43(2):172-183.
|
||
Epub 2022 Feb 2
|
||
doi: 10.1080/13816810.2021.1989600.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35105264" target="_blank">35105264</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22054996">Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah SP,
|
||
Taylor AE,
|
||
Sowden JC,
|
||
Ragge N,
|
||
Russell-Eggitt I,
|
||
Rahi JS,
|
||
Gilbert CE;
|
||
Surveillance of Eye Anomalies Special Interest Group</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2012 Feb;119(2):362-8.
|
||
Epub 2011 Nov 4
|
||
doi: 10.1016/j.ophtha.2011.07.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22054996" target="_blank">22054996</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6777726">Ocular abnormalities of true microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alzial C,
|
||
Dufier JL,
|
||
Aicardi J,
|
||
de Grouchy J,
|
||
Saraux H</span><br />
|
||
<span class="medgenPMjournal">Ophthalmologica</span>
|
||
1980;180(6):333-9.
|
||
doi: 10.1159/000308996.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6777726" target="_blank">6777726</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20microphthalmia%206%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 (24)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37493047">Cryptophthalmos: associated syndromes and genetic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landau-Prat D,
|
||
Kim DH,
|
||
Bautista S,
|
||
Strong A,
|
||
Revere KE,
|
||
Katowitz WR,
|
||
Katowitz JA</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2023 Dec;44(6):547-552.
|
||
Epub 2023 Jul 26
|
||
doi: 10.1080/13816810.2023.2237568.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37493047" target="_blank">37493047</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36595661">Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albakri A,
|
||
Pisuchpen P,
|
||
Capasso JE,
|
||
Schneider A,
|
||
Kopinsky S,
|
||
Glaser T,
|
||
Chiang JP,
|
||
Yomai AA,
|
||
McNear D,
|
||
Levin AV</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Apr;191(4):1007-1012.
|
||
Epub 2023 Jan 3
|
||
doi: 10.1002/ajmg.a.63108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36595661" target="_blank">36595661</a><a href="/pmc/articles/PMC10262898" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35105264">Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fahnehjelm C,
|
||
Dafgård Kopp E,
|
||
Wincent J,
|
||
Güven E,
|
||
Nilsson M,
|
||
Olsson M,
|
||
Teär Fahnehjelm K</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2022 Apr;43(2):172-183.
|
||
Epub 2022 Feb 2
|
||
doi: 10.1080/13816810.2021.1989600.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35105264" target="_blank">35105264</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32438134">Prenatal description of retinal coloboma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Egloff C,
|
||
Tassin M,
|
||
Bault JP,
|
||
Barjol A,
|
||
Collin A,
|
||
Simon I,
|
||
Sibiude J,
|
||
Mandelbrot L,
|
||
Picone O</span><br />
|
||
<span class="medgenPMjournal">J Gynecol Obstet Hum Reprod</span>
|
||
2020 Sep;49(7):101746.
|
||
Epub 2020 May 11
|
||
doi: 10.1016/j.jogoh.2020.101746.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32438134" target="_blank">32438134</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22054996">Anophthalmos, microphthalmos, and Coloboma in the United kingdom: clinical features, results of investigations, and early management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shah SP,
|
||
Taylor AE,
|
||
Sowden JC,
|
||
Ragge N,
|
||
Russell-Eggitt I,
|
||
Rahi JS,
|
||
Gilbert CE;
|
||
Surveillance of Eye Anomalies Special Interest Group</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2012 Feb;119(2):362-8.
|
||
Epub 2011 Nov 4
|
||
doi: 10.1016/j.ophtha.2011.07.039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22054996" target="_blank">22054996</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20microphthalmia%206%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 (36)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36326734">Sesquiterpenoids from Seriphidium transiliense and Their Melanogenic Activity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu JF,
|
||
Turak A,
|
||
Zang D,
|
||
Zou GA,
|
||
Aisa HA</span><br />
|
||
<span class="medgenPMjournal">J Nat Prod</span>
|
||
2022 Nov 25;85(11):2570-2582.
|
||
Epub 2022 Nov 3
|
||
doi: 10.1021/acs.jnatprod.2c00527.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36326734" target="_blank">36326734</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30300919">An application of data mining to identify potential risk factors for anophthalmia and microphthalmia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weber KA,
|
||
Yang W,
|
||
Carmichael SL,
|
||
Lupo PJ,
|
||
Dukhovny S,
|
||
Yazdy MM,
|
||
Lin AE,
|
||
Van Bennekom CM,
|
||
Mitchell AA,
|
||
Shaw GM;
|
||
National Birth Defects Prevention Study</span><br />
|
||
<span class="medgenPMjournal">Paediatr Perinat Epidemiol</span>
|
||
2018 Nov;32(6):545-555.
|
||
Epub 2018 Oct 9
|
||
doi: 10.1111/ppe.12509.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30300919" target="_blank">30300919</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17694989">Microphthalmos associated with Dartmouth combination chemotherapy in pregnancy: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li RH,
|
||
Tam WH,
|
||
Ng PC,
|
||
Mok TS,
|
||
Tam B,
|
||
Lau TK</span><br />
|
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<span class="medgenPMjournal">J Reprod Med</span>
|
||
2007 Jun;52(6):575-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17694989" target="_blank">17694989</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20microphthalmia%206%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33595483">Is 20/20 visual outcome a reality in rubella cataract? - Prognostic factors in children with cataract associated with congenital rubella syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joshi D,
|
||
Krishnaprasad R,
|
||
Agrawal A</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2021 Mar;69(3):598-602.
|
||
doi: 10.4103/ijo.IJO_903_20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33595483" target="_blank">33595483</a><a href="/pmc/articles/PMC7942125" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32829301">Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tibrewal S,
|
||
Subhedar K,
|
||
Sen P,
|
||
Mohan A,
|
||
Singh S,
|
||
Shah C,
|
||
Nischal KK,
|
||
Ganesh S;
|
||
Bodhya Eye Consortium</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2021 Jul;105(7):897-903.
|
||
Epub 2020 Aug 22
|
||
doi: 10.1136/bjophthalmol-2020-316910.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32829301" target="_blank">32829301</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25325708">Comparison of mesenchymal stem cells isolated from pulp and periodontal ligament.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hakki SS,
|
||
Kayis SA,
|
||
Hakki EE,
|
||
Bozkurt SB,
|
||
Duruksu G,
|
||
Unal ZS,
|
||
Turaç G,
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Karaoz E</span><br />
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<span class="medgenPMjournal">J Periodontol</span>
|
||
2015 Feb;86(2):283-91.
|
||
Epub 2014 Oct 17
|
||
doi: 10.1902/jop.2014.140257.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25325708" target="_blank">25325708</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22464758">Surgical and prosthetic treatment for microphthalmia syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wavreille O,
|
||
François Fiquet C,
|
||
Abdelwahab O,
|
||
Laumonier E,
|
||
Wolber A,
|
||
Guerreschi P,
|
||
Pellerin P</span><br />
|
||
<span class="medgenPMjournal">Br J Oral Maxillofac Surg</span>
|
||
2013 Mar;51(2):e17-21.
|
||
Epub 2012 Mar 30
|
||
doi: 10.1016/j.bjoms.2012.02.018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22464758" target="_blank">22464758</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9417914">Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schaefer L,
|
||
Prakash S,
|
||
Zoghbi HY</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1997 Dec 1;46(2):268-77.
|
||
doi: 10.1006/geno.1997.5040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9417914" target="_blank">9417914</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20microphthalmia%206%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38350011">Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahmoud A,
|
||
Pomar L,
|
||
Lambert V,
|
||
Picone O,
|
||
Hcini N</span><br />
|
||
<span class="medgenPMjournal">Ocul Immunol Inflamm</span>
|
||
2024 Nov;32(9):2217-2227.
|
||
Epub 2024 Feb 13
|
||
doi: 10.1080/09273948.2024.2314086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38350011" target="_blank">38350011</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36595661">Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Albakri A,
|
||
Pisuchpen P,
|
||
Capasso JE,
|
||
Schneider A,
|
||
Kopinsky S,
|
||
Glaser T,
|
||
Chiang JP,
|
||
Yomai AA,
|
||
McNear D,
|
||
Levin AV</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2023 Apr;191(4):1007-1012.
|
||
Epub 2023 Jan 3
|
||
doi: 10.1002/ajmg.a.63108.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36595661" target="_blank">36595661</a><a href="/pmc/articles/PMC10262898" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35347187">Demographics and histopathological characteristics of enucleated microphthalmic globes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alkatan HM,
|
||
Bedaiwi KM,
|
||
Al-Faky YH,
|
||
Maktabi AMY</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Mar 28;12(1):5283.
|
||
doi: 10.1038/s41598-022-09261-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35347187" target="_blank">35347187</a><a href="/pmc/articles/PMC8960817" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35105264">Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fahnehjelm C,
|
||
Dafgård Kopp E,
|
||
Wincent J,
|
||
Güven E,
|
||
Nilsson M,
|
||
Olsson M,
|
||
Teär Fahnehjelm K</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2022 Apr;43(2):172-183.
|
||
Epub 2022 Feb 2
|
||
doi: 10.1080/13816810.2021.1989600.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35105264" target="_blank">35105264</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9417914">Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schaefer L,
|
||
Prakash S,
|
||
Zoghbi HY</span><br />
|
||
<span class="medgenPMjournal">Genomics</span>
|
||
1997 Dec 1;46(2):268-77.
|
||
doi: 10.1006/geno.1997.5040.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9417914" target="_blank">9417914</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20microphthalmia%206%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 (26)</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/38350011">Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mahmoud A,
|
||
Pomar L,
|
||
Lambert V,
|
||
Picone O,
|
||
Hcini N</span><br />
|
||
<span class="medgenPMjournal">Ocul Immunol Inflamm</span>
|
||
2024 Nov;32(9):2217-2227.
|
||
Epub 2024 Feb 13
|
||
doi: 10.1080/09273948.2024.2314086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38350011" target="_blank">38350011</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20microphthalmia%206%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>
|
||
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|
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|
||
|
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|
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</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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<div>
|
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|
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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><li><a href="/gtr/tests?term=C3150757%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150757%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C3150757%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3150757%5bDISCUI%5d" target="_blank">See all (19)</a></total></li>
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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=613517" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Isolated%20microphthalmia%206" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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=(isolated%20microphthalmia%206)%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_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=613858" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=646960[geneid]" target="_blank">View PRSS56 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=613517" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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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="http://www.diseaseinfosearch.org/Microphthalmia%2C+isolated+6/8877" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/microphthalmia_isolated_6_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Isolated%20microphthalmia%206" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/18628/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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<h3>Reviews</h3>
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<ul>
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<li>
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<a href="/pubmed/clinical?term=Isolated%20microphthalmia%206" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
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</li>
|
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<li>
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||
<a href="/pubmed?term=Isolated%20microphthalmia%206%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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</li>
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<h3>Related information</h3>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=462107" ref="log$=recordlinks">ClinVar</a>
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