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<meta name="keywords" content="C1562061, congenital abnormality, microspherophakia, 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="Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by Ben Yahia et al., 2009). Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS; 154700), and Weill-Marchesani syndrome (WMS; 277600)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=288328
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ConceptID=C1562061
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Microspherophakia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>288328</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.">C1562061</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Microspherophakia (416671000)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related gene:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/4053">LTBP2</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0030961">HP:0030961</a></td></tr>
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</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">Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by Ben Yahia et al., 2009). Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS; 154700), and Weill-Marchesani syndrome (WMS; 277600). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1562061[DISCUI]&test_type=Clinical" ref="ncbi_uid=288328">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=288328" ref="ncbi_uid=288328">V</a></span></span><span class="TLline">Microspherophakia</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3538951[DISCUI]&test_type=Clinical" ref="ncbi_uid=761238">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=761238" target="_blank" href="/omim/251750">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=761238" ref="ncbi_uid=761238">V</a></span></span><span class="TLline"><a href="/medgen/761238" ref="tree=GTR&ncbi_uid=761238&link_uid=761238" title="View MedGen record for 'Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma'">Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma</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/1370071" ref="tree=MeSH" title="MedGen record for Abnormality of the eye">Abnormality of the eye</a></span><ul><li><span class="TLline"><a href="/medgen/868526" ref="tree=MeSH" title="MedGen record for Abnormal eye morphology">Abnormal eye morphology</a></span><ul><li><span class="TLline"><a href="/medgen/870894" ref="tree=MeSH" title="MedGen record for Abnormal anterior eye segment morphology">Abnormal anterior eye segment morphology</a></span><ul><li><span class="TLline"><a href="/medgen/892382" ref="tree=MeSH" title="MedGen record for Abnormal lens morphology">Abnormal lens morphology</a></span><ul><li><span class="TLline"><a href="/medgen/868903" ref="tree=MeSH" title="MedGen record for Abnormality of lens shape">Abnormality of lens shape</a></span><ul><li><span class="TLline"><a href="/medgen/452350" ref="tree=MeSH" title="MedGen record for Spherophakia">Spherophakia</a></span><ul><li><span class="matched_ds">Microspherophakia</span><ul><li><span class="TLline"><a href="/medgen/761238" ref="tree=MeSH" title="MedGen record for Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma">Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_44287"><div><strong>Marfan syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44287</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.">C0024796</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. Ocular findings include myopia (>50% of affected individuals); ectopia lentis (seen in approximately 60% of affected individuals); and an increased risk for retinal detachment, glaucoma, and early cataracts. Skeletal system manifestations include bone overgrowth and joint laxity; disproportionately long extremities for the size of the trunk (dolichostenomelia); overgrowth of the ribs that can push the sternum in (pectus excavatum) or out (pectus carinatum); and scoliosis that ranges from mild to severe and progressive. The major morbidity and early mortality in Marfan syndrome relate to the cardiovascular system and include dilatation of the aorta at the level of the sinuses of Valsalva (predisposing to aortic tear and rupture), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. Severe and prolonged regurgitation of the mitral and/or aortic valve can predispose to left ventricular dysfunction and occasionally heart failure. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44287">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_358388"><div><strong>Weill-Marchesani syndrome 2, dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358388</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:">C1869115</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/358388">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_761238"><div><strong>Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>761238</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.">C3538951</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/761238">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_762106"><div><strong>Ectopia lentis 1, isolated, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762106</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.">C3541518</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment (Greene et al., 2010). Citing the revised Ghent criteria for Marfan syndrome, Loeys et al. (2010) proposed the designation 'ectopia lentis syndrome' (ELS) for patients with ectopia lentis and a mutation in the FBN1 gene who lack aortic involvement, to highlight the systemic nature of the condition and to emphasize the need for assessment of features outside the ocular system (see DIAGNOSIS). Genetic Heterogeneity of Isolated Ectopia Lentis An autosomal recessive form of isolated ectopia lentis (ECTOL2; 225100) is caused by mutation in the ADAMTSL4 gene (610113).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/762106">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766699"><div><strong>Weill-Marchesani syndrome 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766699</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.">C3553785</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766699">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1637058"><div><strong>Weill-Marchesani syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637058</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.">C4552002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1637058">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1847052"><div><strong>Long-Olsen-Distelmaier syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1847052</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.">C5882721</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Long-Olsen-Distelmaier syndrome (LNGODS) is a severe, early-onset disease with multiple system involvement and lethal dilated cardiomyopathy (DCM) as a core clinical feature (summary by Reijnders et al., 2023).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1847052">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762106" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectopia lentis 1, isolated, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1847052" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Long-Olsen-Distelmaier syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_44287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Marfan syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_761238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1637058" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weill-Marchesani syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weill-Marchesani syndrome 2, dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766699" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weill-Marchesani syndrome 3</a></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/37506754">Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Guo D,
|
||
Liu L,
|
||
Yang F,
|
||
Young CA,
|
||
Zheng D,
|
||
Jin G</span><br />
|
||
<span class="medgenPMjournal">Exp Eye Res</span>
|
||
2023 Sep;234:109606.
|
||
Epub 2023 Jul 26
|
||
doi: 10.1016/j.exer.2023.109606.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37506754" target="_blank">37506754</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32694307">Diagnosis and treatment of microspherophakia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu X,
|
||
Chen W,
|
||
Xu W</span><br />
|
||
<span class="medgenPMjournal">J Cataract Refract Surg</span>
|
||
2020 Dec;46(12):1674-1679.
|
||
doi: 10.1097/j.jcrs.0000000000000334.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32694307" target="_blank">32694307</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23059485">Glaucoma in microspherophakia: presenting features and treatment outcomes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Senthil S,
|
||
Rao HL,
|
||
Hoang NT,
|
||
Jonnadula GB,
|
||
Addepalli UK,
|
||
Mandal AK,
|
||
Garudadari CS</span><br />
|
||
<span class="medgenPMjournal">J Glaucoma</span>
|
||
2014 Apr-May;23(4):262-7.
|
||
doi: 10.1097/IJG.0b013e3182707437.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23059485" target="_blank">23059485</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22microspherophakia%22%5Btiab%3A~0%5D)%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/35417514">18-month results of double-fanged 5-0 polypropylene suture transscleral bag fixation in subluxated cataracts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Canabrava S,
|
||
Rodrigues G,
|
||
Halabi NN,
|
||
Rezende AC,
|
||
Cardoso M</span><br />
|
||
<span class="medgenPMjournal">Arq Bras Oftalmol</span>
|
||
2023 Mar-Apr;86(2):113-120.
|
||
doi: 10.5935/0004-2749.20230022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35417514" target="_blank">35417514</a><a href="/pmc/articles/PMC11892474" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35791105">A systematic approach to the management of microspherophakia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Venkataraman P,
|
||
Haripriya A,
|
||
Mohan N,
|
||
Rajendran A</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2022 Jul;70(7):2262-2271.
|
||
doi: 10.4103/ijo.IJO_2888_21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35791105" target="_blank">35791105</a><a href="/pmc/articles/PMC9426104" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34894793">Combining flanged intrascleral IOL fixation with Glaucoma Surgery: Initial experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pathak-Ray V,
|
||
Bansal AK,
|
||
Malhotra V</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
2022 Sep;32(5):2899-2906.
|
||
Epub 2021 Dec 13
|
||
doi: 10.1177/11206721211066390.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34894793" target="_blank">34894793</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32174599">Recurrent unintentional filtering blebs after vitrectomy: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shanmugam PM,
|
||
Sagar P,
|
||
Konana VK,
|
||
Simakurthy S,
|
||
Ramanjulu R,
|
||
Sheemar A,
|
||
Divyansh Mishra KC</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2020 Apr;68(4):660-662.
|
||
doi: 10.4103/ijo.IJO_1249_19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32174599" target="_blank">32174599</a><a href="/pmc/articles/PMC7210861" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21688762">Lenticular abnormalities in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Khokhar S,
|
||
Agarwal T,
|
||
Kumar G,
|
||
Kushmesh R,
|
||
Tejwani LK</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
2012 Jan-Feb;49(1):32-7.
|
||
Epub 2011 Jun 21
|
||
doi: 10.3928/01913913-20110614-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21688762" target="_blank">21688762</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microspherophakia%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 (30)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35351765">Complicated microspherophakia in a paediatric patient.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bari A,
|
||
Asif MI,
|
||
Anjum S,
|
||
Sinha R</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2022 Mar 29;15(3)
|
||
doi: 10.1136/bcr-2022-249209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35351765" target="_blank">35351765</a><a href="/pmc/articles/PMC8966555" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35067278">Pre- and Post-Surgical Microspherophakia Anterior-Segment OCT.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Saint Sauveur G,
|
||
Chapron T,
|
||
Caputo G</span><br />
|
||
<span class="medgenPMjournal">Ophthalmol Glaucoma</span>
|
||
2022 Jan-Feb;5(1):31.
|
||
doi: 10.1016/j.ogla.2021.09.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35067278" target="_blank">35067278</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32694307">Diagnosis and treatment of microspherophakia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu X,
|
||
Chen W,
|
||
Xu W</span><br />
|
||
<span class="medgenPMjournal">J Cataract Refract Surg</span>
|
||
2020 Dec;46(12):1674-1679.
|
||
doi: 10.1097/j.jcrs.0000000000000334.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32694307" target="_blank">32694307</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31238436">Isolated microspherophakia with retinitis pigmentosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gupta G,
|
||
Gupta PC,
|
||
Thakur A,
|
||
Murugan B,
|
||
Ram J</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2019 Jul;67(7):1160.
|
||
doi: 10.4103/ijo.IJO_1093_18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31238436" target="_blank">31238436</a><a href="/pmc/articles/PMC6611233" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30777961">Double trouble: Microspherophakia with Axenfeld-Rieger anomaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shakrawal J,
|
||
Selvan H,
|
||
Sharma A,
|
||
Angmo D</span><br />
|
||
<span class="medgenPMjournal">Indian J Ophthalmol</span>
|
||
2019 Mar;67(3):394-395.
|
||
doi: 10.4103/ijo.IJO_978_18.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30777961" target="_blank">30777961</a><a href="/pmc/articles/PMC6407397" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microspherophakia%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 (48)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37278431">Visual outcomes and safety profile of intraocular lens implantation versus aphakia in children with microspherophakia with no subluxation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chattannavar G,
|
||
Mohamed A,
|
||
Malgi V,
|
||
Kekunnaya R</span><br />
|
||
<span class="medgenPMjournal">BMJ Open Ophthalmol</span>
|
||
2023 Jan;8(1)
|
||
doi: 10.1136/bmjophth-2022-001049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37278431" target="_blank">37278431</a><a href="/pmc/articles/PMC9835943" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35417514">18-month results of double-fanged 5-0 polypropylene suture transscleral bag fixation in subluxated cataracts.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Canabrava S,
|
||
Rodrigues G,
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Halabi NN,
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Rezende AC,
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2023 Mar-Apr;86(2):113-120.
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<span class="bold">PMID: </span><a href="/pubmed/35417514" target="_blank">35417514</a><a href="/pmc/articles/PMC11892474" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35791105">A systematic approach to the management of microspherophakia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Venkataraman P,
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Haripriya A,
|
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Mohan N,
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Rajendran A</span><br />
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2022 Jul;70(7):2262-2271.
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/30944461">Intra-lenticular lens aspiration in paediatric cases with anterior dislocation of lens.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Sahay P,
|
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Maharana PK,
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Shaikh N,
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Goel S,
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Sinha R,
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Agarwal T,
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Sharma N,
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Titiyal JS</span><br />
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<span class="medgenPMjournal">Eye (Lond)</span>
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2019 Sep;33(9):1411-1417.
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Epub 2019 Apr 3
|
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<span class="bold">PMID: </span><a href="/pubmed/30944461" target="_blank">30944461</a><a href="/pmc/articles/PMC7002720" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28823347">Ectopia Lentis with Microspherophakia in Marfan Syndrome Resolved with Mydriasis.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bontzos G,
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Giarmoukakis A,
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Tsilimbaris M</span><br />
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<span class="medgenPMjournal">Ophthalmology</span>
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2017 Sep;124(9):1313.
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<span class="bold">PMID: </span><a href="/pubmed/28823347" target="_blank">28823347</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microspherophakia%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 (10)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37278431">Visual outcomes and safety profile of intraocular lens implantation versus aphakia in children with microspherophakia with no subluxation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chattannavar G,
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Mohamed A,
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Malgi V,
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Kekunnaya R</span><br />
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<span class="medgenPMjournal">BMJ Open Ophthalmol</span>
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2023 Jan;8(1)
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doi: 10.1136/bmjophth-2022-001049.
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<span class="bold">PMID: </span><a href="/pubmed/37278431" target="_blank">37278431</a><a href="/pmc/articles/PMC9835943" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25469541">Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steinkellner H,
|
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Etzler J,
|
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Gogoll L,
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Neesen J,
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Stifter E,
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Brandau O,
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Laccone F</span><br />
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<span class="medgenPMjournal">Eur J Hum Genet</span>
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2015 Sep;23(9):1186-91.
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Epub 2014 Dec 3
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doi: 10.1038/ejhg.2014.264.
|
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<span class="bold">PMID: </span><a href="/pubmed/25469541" target="_blank">25469541</a><a href="/pmc/articles/PMC4538198" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25397784">Visual outcome and incidence of glaucoma in patients with microspherophakia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Muralidhar R,
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Ankush K,
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Vijayalakshmi P,
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George VP</span><br />
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<span class="medgenPMjournal">Eye (Lond)</span>
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2015 Mar;29(3):350-5.
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Epub 2014 Nov 14
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doi: 10.1038/eye.2014.250.
|
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<span class="bold">PMID: </span><a href="/pubmed/25397784" target="_blank">25397784</a><a href="/pmc/articles/PMC4366451" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24881609">Outcomes of trabeculectomy in microspherophakia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Senthil S,
|
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Rao HL,
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Babu JG,
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Mandal AK,
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Addepalli UK,
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Garudadri CS</span><br />
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<span class="medgenPMjournal">Indian J Ophthalmol</span>
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2014 May;62(5):601-5.
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doi: 10.4103/0301-4738.129785.
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<span class="bold">PMID: </span><a href="/pubmed/24881609" target="_blank">24881609</a><a href="/pmc/articles/PMC4065513" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20029151">Clear lens extraction and intraocular lens implantation in a case of microspherophakia with secondary angle closure glaucoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhattacharjee H,
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Bhattacharjee K,
|
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Medhi J,
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DasGupta S</span><br />
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<span class="medgenPMjournal">Indian J Ophthalmol</span>
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2010 Jan-Feb;58(1):67-70.
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doi: 10.4103/0301-4738.58477.
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<span class="bold">PMID: </span><a href="/pubmed/20029151" target="_blank">20029151</a><a href="/pmc/articles/PMC2841379" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microspherophakia%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 (15)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37278431">Visual outcomes and safety profile of intraocular lens implantation versus aphakia in children with microspherophakia with no subluxation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chattannavar G,
|
||
Mohamed A,
|
||
Malgi V,
|
||
Kekunnaya R</span><br />
|
||
<span class="medgenPMjournal">BMJ Open Ophthalmol</span>
|
||
2023 Jan;8(1)
|
||
doi: 10.1136/bmjophth-2022-001049.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37278431" target="_blank">37278431</a><a href="/pmc/articles/PMC9835943" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32207437">Genetic mapping of autosomal recessive microspherophakia to chromosome 14q24.3 in a consanguineous Pakistani family and screening of exon 36 of LTBP2 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shahzadi M,
|
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Firasat S,
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Kaul H,
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Afshan K,
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Afzal R,
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Naz S</span><br />
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<span class="medgenPMjournal">J Pak Med Assoc</span>
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2020 Mar;70(3):515-518.
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doi: 10.5455/JPMA.302440.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32207437" target="_blank">32207437</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25469541">Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steinkellner H,
|
||
Etzler J,
|
||
Gogoll L,
|
||
Neesen J,
|
||
Stifter E,
|
||
Brandau O,
|
||
Laccone F</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Sep;23(9):1186-91.
|
||
Epub 2014 Dec 3
|
||
doi: 10.1038/ejhg.2014.264.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25469541" target="_blank">25469541</a><a href="/pmc/articles/PMC4538198" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22791552">From tall to short: the role of TGFβ signaling in growth and its disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Goff C,
|
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Cormier-Daire V</span><br />
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<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
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2012 Aug 15;160C(3):145-53.
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Epub 2012 Jul 12
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||
doi: 10.1002/ajmg.c.31337.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22791552" target="_blank">22791552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1519650">Glaucoma-lens ectopia-microspherophakia-stiffness-shortness (GEMSS) syndrome: a dominant disease with manifestations of Weill-Marchesani syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verloes A,
|
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Hermia JP,
|
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Galand A,
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Koulischer L,
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Dodinval P</span><br />
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<span class="medgenPMjournal">Am J Med Genet</span>
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1992 Sep 1;44(1):48-51.
|
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doi: 10.1002/ajmg.1320440112.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1519650" target="_blank">1519650</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microspherophakia%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 (17)</a></div></div>
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||
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|
||
|
||
<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/32694307">Diagnosis and treatment of microspherophakia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yu X,
|
||
Chen W,
|
||
Xu W</span><br />
|
||
<span class="medgenPMjournal">J Cataract Refract Surg</span>
|
||
2020 Dec;46(12):1674-1679.
|
||
doi: 10.1097/j.jcrs.0000000000000334.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32694307" target="_blank">32694307</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Microspherophakia%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>
|
||
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|
||
</div></div></div></div></div></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1562061%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C1562061%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1562061%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C1562061%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (3)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1562061%5bDISCUI%5d" target="_blank">See all (17)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Microspherophakia" target="_blank">ClinicalTrials.gov</a></li></ul></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=(%22microspherophakia%22%5Btiab%3A~0%5D)%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_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Microspherophakia/8884" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Microspherophakia" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Microspherophakia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Microspherophakia%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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