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<meta name="keywords" content="C1644196, adamtsl4, disease or syndrome, ectopia lentis et pupillae, ectopia lentis with ectopia of pupil, 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="The spectrum of ADAMTSL4-related eye disorders is a continuum that includes the phenotypes known as "autosomal recessive isolated ectopia lentis" and "ectopia lentis et pupillae" as well as more minor eye anomalies with no displacement of the pupil and very mild displacement of the lens. Typical eye findings are dislocation of the lens, congenital abnormalities of the iris, refractive errors that may lead to amblyopia, and early-onset cataract. Increased intraocular pressure and retinal detachment may occur on occasion. Eye findings can vary within a family and between the eyes in an individual. In general, no additional systemic manifestations are observed, although skeletal features have been reported in a few affected individuals." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=301316
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||
ConceptID=C1644196
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Ectopia lentis et pupillae</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>301316</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:">C1644196</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>ECTOPIA LENTIS WITH ECTOPIA OF PUPIL</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Ectopia lentis et pupillae (419237004)</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="ADAMTSL4 - ID: 54507 - NCBI Gene" href="/gene/54507" class="medgenPMinfo">ADAMTSL4</a> (1q21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009153" target="_blank">MONDO:0009153</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/225200" target="_blank">225200</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK84111" target="_blank">ADAMTSL4-Related Eye Disorders</a></div><div>The spectrum of ADAMTSL4-related eye disorders is a continuum that includes the phenotypes known as "autosomal recessive isolated ectopia lentis" and "ectopia lentis et pupillae" as well as more minor eye anomalies with no displacement of the pupil and very mild displacement of the lens. Typical eye findings are dislocation of the lens, congenital abnormalities of the iris, refractive errors that may lead to amblyopia, and early-onset cataract. Increased intraocular pressure and retinal detachment may occur on occasion. Eye findings can vary within a family and between the eyes in an individual. In general, no additional systemic manifestations are observed, although skeletal features have been reported in a few affected individuals. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK84111#adamtsl4-eyes.Summary" target="NBK84111">Summary</a> | <a class="medgenPMinfo" href="/books/NBK84111#adamtsl4-eyes.GeneReview_Scope" target="NBK84111">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK84111#adamtsl4-eyes.Diagnosis" target="NBK84111">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK84111#adamtsl4-eyes.Clinical_Characteristics" target="NBK84111">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK84111#adamtsl4-eyes.Genetically_Related_Alleli" target="NBK84111">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK84111#adamtsl4-eyes.Differential_Diagnosis" target="NBK84111">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK84111#adamtsl4-eyes.Management" target="NBK84111">Management</a> | <a class="medgenPMinfo" href="/books/NBK84111#adamtsl4-eyes.Genetic_Counseling" target="NBK84111">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK84111#adamtsl4-eyes.Resources" target="NBK84111">Resources</a> | <a class="medgenPMinfo" href="/books/NBK84111#adamtsl4-eyes.Molecular_Genetics" target="NBK84111">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK84111#adamtsl4-eyes.Chapter_Notes" target="NBK84111">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK84111#adamtsl4-eyes.References" target="NBK84111">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Eyvind Rødahl | Anne Elisabeth Christensen Mellgren | Nils-Erik Boonstra<i>, et. al.</i> <a href="/books/NBK84111" target="NBK84111" title="NCBI Bookshelf: ADAMTSL4-Related Eye Disorders">view full author information</a></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Ectopia lentis et pupillae is a congenital hereditary disorder in which there is displacement of the lenses and the pupils, associated with other ocular anomalies, but without systemic manifestations. The condition is usually bilateral, with the lenses and pupils displaced in opposite directions (summary by Cruysberg and Pinckers, 1995). Additional signs include enlarged corneal diameter, increased corneal astigmatism, increased anterior chamber depth, thinning and flattening of the iris with loss of crypts, angle malformation caused by enlarged iris processes, persistent pupillary membrane, loss of zonular fibers, tilted disc, and increased axial length. Secondary manifestations include refractive errors, glaucoma, early cataract development, and retinal detachment. Membrane formation on the posterior aspect of the iris has been observed both in histologic sections and on ultrasound biomicroscopy (summary by Christensen et al., 2010). <a target="_blank" href="http://www.omim.org/entry/225200">http://www.omim.org/entry/225200</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_41704"><div><strong>Ectopia lentis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41704</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.">C0013581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41704">Feature record</a> | <a href="/medgen?term=%22Ectopia%20lentis%22%5BClinical%20Features%5D%20OR%2041704%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_19759"><div><strong>Retinal detachment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>19759</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.">C0035305</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/19759">Feature record</a> | <a href="/medgen?term=%22Retinal%20detachment%22%5BClinical%20Features%5D%20OR%2019759%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39462"><div><strong>Cataract</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39462</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.">C0086543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39462">Feature record</a> | <a href="/medgen?term=%22Cataract%22%5BClinical%20Features%5D%20OR%2039462%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78759"><div><strong>High myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78759</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.">C0271183</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A severe form of myopia with greater than -6.00 diopters.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78759">Feature record</a> | <a href="/medgen?term=%22High%20myopia%22%5BClinical%20Features%5D%20OR%2078759%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_138009"><div><strong>Persistent pupillary membrane</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>138009</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.">C0344541</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/138009">Feature record</a> | <a href="/medgen?term=%22Persistent%20pupillary%20membrane%22%5BClinical%20Features%5D%20OR%20138009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_786045"><div><strong>Iris transillumination defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>786045</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.">C1096099</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/786045">Feature record</a> | <a href="/medgen?term=%22Iris%20transillumination%20defect%22%5BClinical%20Features%5D%20OR%20786045%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_224790"><div><strong>Congenital ectopic pupil</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>224790</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.">C1271219</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ectopia pupillae is a congenital eye malformation in which the pupils are displaced from their normal central position.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/224790">Feature record</a> | <a href="/medgen?term=%22Congenital%20ectopic%20pupil%22%5BClinical%20Features%5D%20OR%20224790%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite"><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39462" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cataract</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_224790" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital ectopic pupil</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectopia lentis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78759" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">High myopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_786045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Iris transillumination defect</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_138009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Persistent pupillary membrane</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_19759" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal detachment</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=C0013581[DISCUI]&test_type=Clinical" ref="ncbi_uid=41704">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=41704" ref="ncbi_uid=41704">V</a></span></span><span class="TLline"><a href="/medgen/41704" ref="tree=GTR&ncbi_uid=41704&link_uid=41704" title="View MedGen record for 'Ectopia lentis'">Ectopia lentis</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=C3541518[DISCUI]&test_type=Clinical" ref="ncbi_uid=762106">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=762106" target="_blank" href="/omim/129600">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=762106" ref="ncbi_uid=762106">V</a></span></span><span class="TLline"><a href="/medgen/762106" ref="tree=GTR&ncbi_uid=762106&link_uid=762106" title="View MedGen record for 'Ectopia lentis 1, isolated, autosomal dominant'">Ectopia lentis 1, isolated, autosomal dominant</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3541474[DISCUI]&test_type=Clinical" ref="ncbi_uid=762100">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=762100" target="_blank" href="/omim/225100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK84111/" ref="ncbi_uid=762100">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=762100" ref="ncbi_uid=762100">V</a></span></span><span class="TLline"><a href="/medgen/762100" ref="tree=GTR&ncbi_uid=762100&link_uid=762100" title="View MedGen record for 'Ectopia lentis 2, isolated, autosomal recessive'">Ectopia lentis 2, isolated, autosomal recessive</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=C1644196[DISCUI]&test_type=Clinical" ref="ncbi_uid=301316">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=301316" target="_blank" href="/omim/225200">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK84111/" ref="ncbi_uid=301316">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=301316" ref="ncbi_uid=301316">V</a></span></span><span class="TLline">Ectopia lentis et pupillae</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/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><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/41704" ref="tree=MeSH" title="MedGen record for Ectopia lentis">Ectopia lentis</a></span><ul><li><span class="matched_ds">Ectopia lentis et pupillae</span></li></ul></li></ul></li></ul></li></ul></li></ul></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/22736615">A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chandra A,
|
||
Aragon-Martin JA,
|
||
Hughes K,
|
||
Gati S,
|
||
Reddy MA,
|
||
Deshpande C,
|
||
Cormack G,
|
||
Child AH,
|
||
Charteris DG,
|
||
Arno G</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2012 Jul 24;53(8):4889-96.
|
||
doi: 10.1167/iovs.12-9874.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22736615" target="_blank">22736615</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22ectopia%20lentis%20et%20pupillae%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 (1)</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/36284667">The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knight LSW,
|
||
Mullany S,
|
||
Taranath DA,
|
||
Ruddle JB,
|
||
Barnett CP,
|
||
Sallevelt SCEH,
|
||
Berry EC,
|
||
Marshall HN,
|
||
Hollitt GL,
|
||
Souzeau E,
|
||
Craig JE,
|
||
Siggs OM</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
2022;28:257-268.
|
||
Epub 2022 Sep 4
|
||
<span class="bold">PMID: </span><a href="/pubmed/36284667" target="_blank">36284667</a><a href="/pmc/articles/PMC9514546" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30944461">Intra-lenticular lens aspiration in paediatric cases with anterior dislocation of lens.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sahay P,
|
||
Maharana PK,
|
||
Shaikh N,
|
||
Goel S,
|
||
Sinha R,
|
||
Agarwal T,
|
||
Sharma N,
|
||
Titiyal JS</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2019 Sep;33(9):1411-1417.
|
||
Epub 2019 Apr 3
|
||
doi: 10.1038/s41433-019-0426-y.
|
||
<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/22736615">A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chandra A,
|
||
Aragon-Martin JA,
|
||
Hughes K,
|
||
Gati S,
|
||
Reddy MA,
|
||
Deshpande C,
|
||
Cormack G,
|
||
Child AH,
|
||
Charteris DG,
|
||
Arno G</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2012 Jul 24;53(8):4889-96.
|
||
doi: 10.1167/iovs.12-9874.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22736615" target="_blank">22736615</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2979048">Clinical manifestations of ectopia lentis et pupillae in 16 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldberg MF</span><br />
|
||
<span class="medgenPMjournal">Trans Am Ophthalmol Soc</span>
|
||
1988;86:158-77.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2979048" target="_blank">2979048</a><a href="/pmc/articles/PMC1298806" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/938292">Ectopia lentis et pupillae.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Townes PL</span><br />
|
||
<span class="medgenPMjournal">Arch Ophthalmol</span>
|
||
1976 Jul;94(7):1126-8.
|
||
doi: 10.1001/archopht.1976.03910040042007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/938292" target="_blank">938292</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ectopia%20lentis%20et%20pupillae%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36284667">The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knight LSW,
|
||
Mullany S,
|
||
Taranath DA,
|
||
Ruddle JB,
|
||
Barnett CP,
|
||
Sallevelt SCEH,
|
||
Berry EC,
|
||
Marshall HN,
|
||
Hollitt GL,
|
||
Souzeau E,
|
||
Craig JE,
|
||
Siggs OM</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
2022;28:257-268.
|
||
Epub 2022 Sep 4
|
||
<span class="bold">PMID: </span><a href="/pubmed/36284667" target="_blank">36284667</a><a href="/pmc/articles/PMC9514546" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36089008">Correlation between novel compound heterozygous ADAMTSL4 variants and primary phenotypes of ectopia lentis et pupillae.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao J,
|
||
Zhou Y,
|
||
Zhang J,
|
||
Zhang K,
|
||
Shang L,
|
||
Li J</span><br />
|
||
<span class="medgenPMjournal">Exp Eye Res</span>
|
||
2022 Nov;224:109243.
|
||
Epub 2022 Sep 9
|
||
doi: 10.1016/j.exer.2022.109243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36089008" target="_blank">36089008</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23426735">Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sharifi Y,
|
||
Tjon-Fo-Sang MJ,
|
||
Cruysberg JR,
|
||
Maat-Kievit AJ</span><br />
|
||
<span class="medgenPMjournal">Br J Ophthalmol</span>
|
||
2013 May;97(5):583-7.
|
||
Epub 2013 Feb 20
|
||
doi: 10.1136/bjophthalmol-2012-302367.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23426735" target="_blank">23426735</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2979048">Clinical manifestations of ectopia lentis et pupillae in 16 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldberg MF</span><br />
|
||
<span class="medgenPMjournal">Trans Am Ophthalmol Soc</span>
|
||
1988;86:158-77.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2979048" target="_blank">2979048</a><a href="/pmc/articles/PMC1298806" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4434668">Ectopia lentis et pupillae.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Buchta RM</span><br />
|
||
<span class="medgenPMjournal">Clin Pediatr (Phila)</span>
|
||
1974 Dec;13(12):1079-80.
|
||
doi: 10.1177/000992287401301222.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4434668" target="_blank">4434668</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ectopia%20lentis%20et%20pupillae%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 (17)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30944461">Intra-lenticular lens aspiration in paediatric cases with anterior dislocation of lens.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sahay P,
|
||
Maharana PK,
|
||
Shaikh N,
|
||
Goel S,
|
||
Sinha R,
|
||
Agarwal T,
|
||
Sharma N,
|
||
Titiyal JS</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2019 Sep;33(9):1411-1417.
|
||
Epub 2019 Apr 3
|
||
doi: 10.1038/s41433-019-0426-y.
|
||
<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/16102486">Functional and structural outcomes following lensectomy for ectopia lentis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu-Chen WY,
|
||
Letson RD,
|
||
Summers CG</span><br />
|
||
<span class="medgenPMjournal">J AAPOS</span>
|
||
2005 Aug;9(4):353-7.
|
||
doi: 10.1016/j.jaapos.2005.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16102486" target="_blank">16102486</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12640414">Vitrectomy for phacolytic glaucoma in a patient with ectopia lentis et pupillae.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rossiter JD,
|
||
Morris AH,
|
||
Etchells DE,
|
||
Crick MP</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2003 Mar;17(2):243-4.
|
||
doi: 10.1038/sj.eye.6700302.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12640414" target="_blank">12640414</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7714703">Idiopathic tractional corectopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atkinson CS,
|
||
Brodsky MC,
|
||
Hiles DA,
|
||
Simon JW</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Ophthalmol Strabismus</span>
|
||
1994 Nov-Dec;31(6):387-90.
|
||
doi: 10.3928/0191-3913-19941101-09.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7714703" target="_blank">7714703</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ectopia%20lentis%20et%20pupillae%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/20702823">A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christensen AE,
|
||
Fiskerstrand T,
|
||
Knappskog PM,
|
||
Boman H,
|
||
Rødahl E</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2010 Dec;51(12):6369-73.
|
||
Epub 2010 Aug 11
|
||
doi: 10.1167/iovs.10-5597.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20702823" target="_blank">20702823</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16468556">Management of bilateral ectopia lentis et pupillae syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Omulecki W,
|
||
Wilczynski M,
|
||
Gerkowicz M</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Surg Lasers Imaging</span>
|
||
2006 Jan-Feb;37(1):68-71.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16468556" target="_blank">16468556</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12939682">Cleft lip and palate with ectopia lentis et pupillae.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sha'ban RI,
|
||
Asfour WM</span><br />
|
||
<span class="medgenPMjournal">Saudi Med J</span>
|
||
2003 Aug;24(8):901-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12939682" target="_blank">12939682</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9793775">Ectopia lentis et pupillae with patchy depigmentation of the skin, hair and lashes: a new association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manitto MP,
|
||
Brancato R,
|
||
Lombardo N,
|
||
Zarrella M,
|
||
Nucci P</span><br />
|
||
<span class="medgenPMjournal">Eur J Ophthalmol</span>
|
||
1998 Jul-Sep;8(3):188-90.
|
||
doi: 10.1177/112067219800800313.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9793775" target="_blank">9793775</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2979048">Clinical manifestations of ectopia lentis et pupillae in 16 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Goldberg MF</span><br />
|
||
<span class="medgenPMjournal">Trans Am Ophthalmol Soc</span>
|
||
1988;86:158-77.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2979048" target="_blank">2979048</a><a href="/pmc/articles/PMC1298806" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ectopia%20lentis%20et%20pupillae%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36089008">Correlation between novel compound heterozygous ADAMTSL4 variants and primary phenotypes of ectopia lentis et pupillae.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhao J,
|
||
Zhou Y,
|
||
Zhang J,
|
||
Zhang K,
|
||
Shang L,
|
||
Li J</span><br />
|
||
<span class="medgenPMjournal">Exp Eye Res</span>
|
||
2022 Nov;224:109243.
|
||
Epub 2022 Sep 9
|
||
doi: 10.1016/j.exer.2022.109243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36089008" target="_blank">36089008</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30944461">Intra-lenticular lens aspiration in paediatric cases with anterior dislocation of lens.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sahay P,
|
||
Maharana PK,
|
||
Shaikh N,
|
||
Goel S,
|
||
Sinha R,
|
||
Agarwal T,
|
||
Sharma N,
|
||
Titiyal JS</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2019 Sep;33(9):1411-1417.
|
||
Epub 2019 Apr 3
|
||
doi: 10.1038/s41433-019-0426-y.
|
||
<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/20702823">A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christensen AE,
|
||
Fiskerstrand T,
|
||
Knappskog PM,
|
||
Boman H,
|
||
Rødahl E</span><br />
|
||
<span class="medgenPMjournal">Invest Ophthalmol Vis Sci</span>
|
||
2010 Dec;51(12):6369-73.
|
||
Epub 2010 Aug 11
|
||
doi: 10.1167/iovs.10-5597.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20702823" target="_blank">20702823</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9663242">Ectopia lentis et pupillae. A hypothesis revisited.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Byles DB,
|
||
Nischal KK,
|
||
Cheng H</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
1998 Jul;105(7):1331-6.
|
||
doi: 10.1016/S0161-6420(98)97043-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9663242" target="_blank">9663242</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/868964">Iris transillumination and variable expression in ectopia lentis et pupillae.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luebbers JA,
|
||
Goldberg MF,
|
||
Herbst R,
|
||
Hattenhauer J,
|
||
Maumenee AE</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1977 May;83(5):647-56.
|
||
doi: 10.1016/0002-9394(77)90130-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/868964" target="_blank">868964</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Ectopia%20lentis%20et%20pupillae%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 (6)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1644196%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (14)</a></li>
|
||
<li><a href="/gtr/tests?term=C1644196%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1644196%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (19)</a></li>
|
||
<li><a href="/gtr/tests?term=C1644196%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=C1644196%5bDISCUI%5d" target="_blank">See all (24)</a></total></li>
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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=225200" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Ectopia%20lentis%20et%20pupillae" 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=(%22ectopia%20lentis%20et%20pupillae%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 mgSection" id="ID_115">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=610113" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=54507[geneid]" target="_blank">View ADAMTSL4 variations in ClinVar</a></li><li><a href="/nuccore/237874201" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=225200" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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||
<div class="portlet_content ln"><ul><li><a href="https://www.malacards.org/card/ectopia_lentis_et_pupillae" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Ectopia%20lentis%20et%20pupillae" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15164/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
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|
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|
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<div class="portlet brieflink">
|
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<div class="portlet_title">
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<h3>Reviews</h3>
|
||
</div>
|
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<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
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<div class="portlet_content">
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<ul>
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<li>
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<a href="/pubmed/22338190" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
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|
||
<li>
|
||
<a href="/pubmed/clinical?term=Ectopia%20lentis%20et%20pupillae" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
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<li>
|
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<a href="/pubmed?term=Ectopia%20lentis%20et%20pupillae%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
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<!-- MedGen supplemental column ends here -->
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<div class="portlet brieflink">
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<h3>Related information</h3>
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<div class="portlet_content DiscoveryDbLinks">
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=301316" ref="log$=recordlinks">ClinVar</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1644196[DISCUI]" ref="log$=recordlinks">GTR</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1644196[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=301316" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=301316" ref="log$=recordlinks">PubMed (OMIM)</a>
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Clear
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Turn Off
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cc36d7b15b832ebc378f74">Ectopia lentis et pupillae</a>
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<div class="ralinkpop offscreen_noflow">Ectopia lentis et pupillae<div class="brieflinkpopdesc"></div></div>
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<a class="htb" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67cc36d684f3725e597bdb3a">C1644196[conceptid] <span class="number">(1)</span></a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67cc36d5a68b6b5afcb3a425">C3541474[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(14)</span></a>
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<div class="ralinkpop offscreen_noflow">C3541474[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67cc36d4a68b6b5afcb39e56">C3541518[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(257)</span></a>
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<div class="ralinkpop offscreen_noflow">C3541518[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67cc36d3f4a390645e8042df">C2677481[trait identifier] AND "Fulgent Genetics, Fulgent Genetic... <span class="number">(2)</span></a>
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<div class="ralinkpop offscreen_noflow">C2677481[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[submitter]<div class="brieflinkpopdesc">Search</div></div>
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<div class="tertiary">ClinVar</div>
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