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<!--
|
||
UID=351204
|
||
ConceptID=C1864720
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Isolated microphthalmia 2<span class="h1sub">(MCOP2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351204</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.">C1864720</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, Isolated 2</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="VSX2 - ID: 338917 - NCBI Gene" href="/gene/338917" class="medgenPMinfo">VSX2</a> (14q24.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012409" target="_blank">MONDO:0012409</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/610093" target="_blank">610093</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene. [from <a title="Monarch Initiative" href="https://monarchinitiative.org/" class="defSource" target="_blank">MONDO</a>]</div>
|
||
</div>
|
||
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<div class="portlet mgSection" id="ID_102">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%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_602191"><div><strong>Opacification of the corneal stroma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>602191</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.">C0423250</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced transparency of the stroma of cornea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/602191">Feature record</a> | <a href="/medgen?term=%22Opacification%20of%20the%20corneal%20stroma%22%5BClinical%20Features%5D%20OR%20602191%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 the eye</span><ul><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_602191" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Opacification of the corneal stroma</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5680330[DISCUI]&test_type=Clinical" ref="ncbi_uid=1826077">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1826077" ref="ncbi_uid=1826077">V</a></span></span><span class="TLline"><a href="/medgen/1826077" ref="tree=GTR&ncbi_uid=1826077&link_uid=1826077" title="View MedGen record for 'Anophthalmia-microphthalmia syndrome'">Anophthalmia-microphthalmia syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1859773[DISCUI]&test_type=Clinical" ref="ncbi_uid=347232">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1859773[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=347232">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347232" target="_blank" href="/omim/184429">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1300/" ref="ncbi_uid=347232">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=347232" ref="ncbi_uid=347232">V</a></span></span><span class="TLline"><a href="/medgen/347232" ref="tree=GTR&ncbi_uid=347232&link_uid=347232" title="View MedGen record for 'Anophthalmia/microphthalmia-esophageal atresia syndrome'">Anophthalmia/microphthalmia-esophageal atresia syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1855052[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=381546">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=381546" target="_blank" href="/omim/251600">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/381546" ref="tree=GTR&ncbi_uid=381546&link_uid=381546" title="View MedGen record for 'Isolated microphthalmia 1'">Isolated microphthalmia 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864720[DISCUI]&test_type=Clinical" ref="ncbi_uid=351204">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=351204" target="_blank" href="/omim/142993">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=351204" ref="ncbi_uid=351204">V</a></span></span><span class="TLline">Isolated microphthalmia 2</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846265[DISCUI]&test_type=Clinical" ref="ncbi_uid=337547">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=337547" target="_blank" href="/omim/300166">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=337547" ref="ncbi_uid=337547">V</a></span></span><span class="TLline"><a href="/medgen/337547" ref="tree=GTR&ncbi_uid=337547&link_uid=337547" title="View MedGen record for 'Oculofaciocardiodental syndrome'">Oculofaciocardiodental syndrome</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1826077" ref="tree=MeSH" title="MedGen record for Anophthalmia-microphthalmia syndrome">Anophthalmia-microphthalmia syndrome</a></span><ul><li><span class="matched_ds">Isolated microphthalmia 2</span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/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 class="nl"><a target="_blank" href="/pubmed/32996714">Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lang E,
|
||
Koller S,
|
||
Atac D,
|
||
Pfäffli OA,
|
||
Hanson JVM,
|
||
Feil S,
|
||
Bähr L,
|
||
Bahr A,
|
||
Kottke R,
|
||
Joset P,
|
||
Fasler K,
|
||
Barthelmes D,
|
||
Steindl K,
|
||
Konrad D,
|
||
Wille DA,
|
||
Berger W,
|
||
Gerth-Kahlert C</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol</span>
|
||
2021 Jun;99(4):e594-e607.
|
||
Epub 2020 Sep 30
|
||
doi: 10.1111/aos.14615.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32996714" target="_blank">32996714</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(isolated%20microphthalmia%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (6)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/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/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/28376192">Deciphering the Role of Oncogenic MITFE318K in Senescence Delay and Melanoma Progression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonet C,
|
||
Luciani F,
|
||
Ottavi JF,
|
||
Leclerc J,
|
||
Jouenne FM,
|
||
Boncompagni M,
|
||
Bille K,
|
||
Hofman V,
|
||
Bossis G,
|
||
Marco de Donatis G,
|
||
Strub T,
|
||
Cheli Y,
|
||
Ohanna M,
|
||
Luciano F,
|
||
Marchetti S,
|
||
Rocchi S,
|
||
Birling MC,
|
||
Avril MF,
|
||
Poulalhon N,
|
||
Luc T,
|
||
Hofman P,
|
||
Lacour JP,
|
||
Davidson I,
|
||
Bressac-de Paillerets B,
|
||
Ballotti R,
|
||
Marine JC,
|
||
Bertolotto C</span><br />
|
||
<span class="medgenPMjournal">J Natl Cancer Inst</span>
|
||
2017 Aug 1;109(8)
|
||
doi: 10.1093/jnci/djw340.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28376192" target="_blank">28376192</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25903150">Melanogenesis-inducing effect of cirsimaritin through increases in microphthalmia-associated transcription factor and tyrosinase expression.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim HJ,
|
||
Kim IS,
|
||
Dong Y,
|
||
Lee IS,
|
||
Kim JS,
|
||
Kim JS,
|
||
Woo JT,
|
||
Cha BY</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2015 Apr 20;16(4):8772-88.
|
||
doi: 10.3390/ijms16048772.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25903150" target="_blank">25903150</a><a href="/pmc/articles/PMC4425108" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20microphthalmia%202%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 (35)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<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/31793858">Ocular Spiroplasma ixodetis in Newborns, France.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matet A,
|
||
Le Flèche-Matéos A,
|
||
Doz F,
|
||
Dureau P,
|
||
Cassoux N</span><br />
|
||
<span class="medgenPMjournal">Emerg Infect Dis</span>
|
||
2020 Feb;26(2):340-344.
|
||
Epub 2020 Feb 17
|
||
doi: 10.3201/eid2602.191097.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31793858" target="_blank">31793858</a><a href="/pmc/articles/PMC6986854" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18039390">Anophthalmia and microphthalmia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verma AS,
|
||
Fitzpatrick DR</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2007 Nov 26;2:47.
|
||
doi: 10.1186/1750-1172-2-47.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18039390" target="_blank">18039390</a><a href="/pmc/articles/PMC2246098" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1923312">Retrobulbar cysts in Aicardi's syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lorenz B,
|
||
Hasenfratz G,
|
||
Laub MC,
|
||
Baierl P</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Paediatr Genet</span>
|
||
1991 Jun;12(2):105-10.
|
||
doi: 10.3109/13816819109023682.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1923312" target="_blank">1923312</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2818284">Simple microphthalmos.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss AH,
|
||
Kousseff BG,
|
||
Ross EA,
|
||
Longbottom J</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1989 Nov;107(11):1625-30.
|
||
doi: 10.1001/archopht.1989.01070020703032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2818284" target="_blank">2818284</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20microphthalmia%202%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 (40)</a></div><h3 class="subhead">Therapy</h3>
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<div class="portlet_content ln"><span class="medgenPMauthor">Wang W,
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Zhang Y,
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<div class="nl"><a target="_blank" href="/pubmed/15971507">The epidemiology of anophthalmia and microphthalmia in Sweden.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Källén B,
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<span class="bold">PMID: </span><a href="/pubmed/15971507" target="_blank">15971507</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20microphthalmia%202%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 (11)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/31898538">Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/31898538" target="_blank">31898538</a><a href="/pmc/articles/PMC6941291" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/23881059">A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Mory A,
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Ruiz FX,
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Dagan E,
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|
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|
||
<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Schaefer L,
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<span class="bold">PMID: </span><a href="/pubmed/9417914" target="_blank">9417914</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hutto C,
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Arvin A,
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Jacobs R,
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Steele R,
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<span class="bold">PMID: </span><a href="/pubmed/3794894" target="_blank">3794894</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/179325">Optic nerve manifestations of human congenital cytomegalovirus infection.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hittner HM,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20microphthalmia%202%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 (21)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Fahnehjelm C,
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<span class="bold">PMID: </span><a href="/pubmed/35105264" target="_blank">35105264</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30847755">Inhibition of melanin production by anthracenone dimer glycosides isolated from Cassia auriculata seeds.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang W,
|
||
Zhang Y,
|
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Nakashima S,
|
||
Nakamura S,
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Wang T,
|
||
Yoshikawa M,
|
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Matsuda H</span><br />
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<span class="medgenPMjournal">J Nat Med</span>
|
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2019 Jun;73(3):439-449.
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||
Epub 2019 Mar 7
|
||
doi: 10.1007/s11418-018-01276-2.
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||
<span class="bold">PMID: </span><a href="/pubmed/30847755" target="_blank">30847755</a><a href="/pmc/articles/PMC7176596" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23881059">A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mory A,
|
||
Ruiz FX,
|
||
Dagan E,
|
||
Yakovtseva EA,
|
||
Kurolap A,
|
||
Parés X,
|
||
Farrés J,
|
||
Gershoni-Baruch R</span><br />
|
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<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2014 Mar;22(3):419-22.
|
||
Epub 2013 Jul 24
|
||
doi: 10.1038/ejhg.2013.157.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23881059" target="_blank">23881059</a><a href="/pmc/articles/PMC3925280" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18039390">Anophthalmia and microphthalmia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verma AS,
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Fitzpatrick DR</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2007 Nov 26;2:47.
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<span class="bold">PMID: </span><a href="/pubmed/18039390" target="_blank">18039390</a><a href="/pmc/articles/PMC2246098" target="_blank" class="PubMedFree">Free PMC Article</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%202%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 (48)</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 class="nl"><a target="_blank" href="/pubmed/19752522">Prenatal diagnosis of fetal cataract: case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Léonard A,
|
||
Bernard P,
|
||
Hiel AL,
|
||
Hubinont C</span><br />
|
||
<span class="medgenPMjournal">Fetal Diagn Ther</span>
|
||
2009;26(2):61-7.
|
||
Epub 2009 Sep 11
|
||
doi: 10.1159/000238117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19752522" target="_blank">19752522</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isolated%20microphthalmia%202%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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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 mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1864720%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864720%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864720%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864720%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (32)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864720%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (8)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1864720%5bDISCUI%5d" target="_blank">See all (32)</a></total></li>
|
||
</ul></div>
|
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</div>
|
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|
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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=610093" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Isolated%20microphthalmia%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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||
</div>
|
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|
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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=(isolated%20microphthalmia%202)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Isolated%20microphthalmia%202%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="tertiary">MedGen</div>
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