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<!--
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||
UID=3619
|
||
ConceptID=C0010036
|
||
-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Corneal dystrophy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>3619</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.">C0010036</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Corneal Dystrophy; corneal dystrophy; corneal dystrophy (disease)</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Corneal dystrophy (5587004)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="divPopper rprt" id="moi_165802"><div><strong>Mitochondrial inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>165802</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.">C0887941</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Genetic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy).</div></div>
|
||
<div class="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_165802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<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/83959">SLC4A11</a>, <a target="_blank" href="/gene/79977">GRHL2</a>, <a target="_blank" href="/gene/58495">OVOL2</a>, <a target="_blank" href="/gene/6935">ZEB1</a>, <a target="_blank" href="/gene/1296">COL8A2</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:0001131">HP:0001131</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0018102" target="_blank">MONDO:0018102</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=34533">ORPHA34533</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</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><li><a href="#tabORDO">Orphanet</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=C0010036[DISCUI]&test_type=Clinical" ref="ncbi_uid=3619">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=3619" ref="ncbi_uid=3619">V</a></span></span><span class="TLline">Corneal dystrophy</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1779156" ref="tree=GTR&ncbi_uid=1779156&link_uid=1779156" title="View MedGen record for 'Corneal endothelial dystrophy'">Corneal endothelial dystrophy</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=C1857569[DISCUI]&test_type=Clinical" ref="ncbi_uid=387857">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=387857" target="_blank" href="/omim/217700">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=387857" ref="ncbi_uid=387857">V</a></span></span><span class="TLline"><a href="/medgen/387857" ref="tree=GTR&ncbi_uid=387857&link_uid=387857" title="View MedGen record for 'Congenital hereditary endothelial dystrophy of cornea'">Congenital hereditary endothelial dystrophy of cornea</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=C0016781[DISCUI]&test_type=Clinical" ref="ncbi_uid=4800">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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/4800" ref="tree=GTR&ncbi_uid=4800&link_uid=4800" title="View MedGen record for 'Fuchs endothelial dystrophy'">Fuchs endothelial dystrophy</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=C0339284[DISCUI]&test_type=Clinical" ref="ncbi_uid=87382">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=87382" target="_blank" href="/omim/122000">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=87382" ref="ncbi_uid=87382">V</a></span></span><span class="TLline"><a href="/medgen/87382" ref="tree=GTR&ncbi_uid=87382&link_uid=87382" title="View MedGen record for 'Posterior polymorphous corneal dystrophy'">Posterior polymorphous corneal dystrophy</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=C4747961[DISCUI]&test_type=Clinical" ref="ncbi_uid=1648359">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1648359" target="_blank" href="/omim/608576">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=1648359" ref="ncbi_uid=1648359">V</a></span></span><span class="TLline"><a href="/medgen/1648359" ref="tree=GTR&ncbi_uid=1648359&link_uid=1648359" title="View MedGen record for 'Corneal dystrophy, posterior polymorphous, 4'">Corneal dystrophy, posterior polymorphous, 4</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=C1852555[DISCUI]&test_type=Clinical" ref="ncbi_uid=343836">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343836" target="_blank" href="/omim/122000">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=343836" ref="ncbi_uid=343836">V</a></span></span><span class="TLline"><a href="/medgen/343836" ref="tree=GTR&ncbi_uid=343836&link_uid=343836" title="View MedGen record for 'Posterior polymorphous corneal dystrophy 1'">Posterior polymorphous corneal dystrophy 1</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=C1852795[DISCUI]&test_type=Clinical" ref="ncbi_uid=377757">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=377757" target="_blank" href="/omim/120252">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=377757" ref="ncbi_uid=377757">V</a></span></span><span class="TLline"><a href="/medgen/377757" ref="tree=GTR&ncbi_uid=377757&link_uid=377757" title="View MedGen record for 'Posterior polymorphous corneal dystrophy 2'">Posterior polymorphous corneal dystrophy 2</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=C1836724[DISCUI]&test_type=Clinical" ref="ncbi_uid=322978">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=322978" target="_blank" href="/omim/189909">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=322978" ref="ncbi_uid=322978">V</a></span></span><span class="TLline"><a href="/medgen/322978" ref="tree=GTR&ncbi_uid=322978&link_uid=322978" title="View MedGen record for 'Posterior polymorphous corneal dystrophy 3'">Posterior polymorphous corneal dystrophy 3</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=413518" target="_blank" href="/omim/300779">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/413518" ref="tree=GTR&ncbi_uid=413518&link_uid=413518" title="View MedGen record for 'X-linked endothelial corneal dystrophy'">X-linked endothelial corneal dystrophy</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/1842949" ref="tree=GTR&ncbi_uid=1842949&link_uid=1842949" title="View MedGen record for 'Syndromic corneal dystrophy'">Syndromic corneal dystrophy</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/242751" ref="tree=GTR&ncbi_uid=242751&link_uid=242751" title="View MedGen record for 'Iridocorneal endothelial syndrome'">Iridocorneal endothelial syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/107777" ref="tree=GTR&ncbi_uid=107777&link_uid=107777" title="View MedGen record for 'Chandler syndrome'">Chandler syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/218910" ref="tree=GTR&ncbi_uid=218910&link_uid=218910" title="View MedGen record for 'Cogan-Reese syndrome'">Cogan-Reese syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/543177" ref="tree=GTR&ncbi_uid=543177&link_uid=543177" title="View MedGen record for 'Essential iris atrophy'">Essential iris atrophy</a></span></li></ul></li></ul></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/383737" ref="tree=MeSH" title="MedGen record for Abnormal cornea morphology">Abnormal cornea morphology</a></span><ul><li><span class="matched_ds">Corneal dystrophy</span><ul><li><span class="TLline"><a href="/medgen/1002866" ref="tree=MeSH" title="MedGen record for Band-shaped corneal dystrophy">Band-shaped corneal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1779156" ref="tree=MeSH" title="MedGen record for Corneal endothelial dystrophy">Corneal endothelial dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/387857" ref="tree=MeSH" title="MedGen record for Congenital hereditary endothelial dystrophy of cornea">Congenital hereditary endothelial dystrophy of cornea</a></span></li><li><span class="TLline"><a href="/medgen/4800" ref="tree=MeSH" title="MedGen record for Fuchs endothelial dystrophy">Fuchs endothelial dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/87382" ref="tree=MeSH" title="MedGen record for Posterior polymorphous corneal dystrophy">Posterior polymorphous corneal dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1648359" ref="tree=MeSH" title="MedGen record for Corneal dystrophy, posterior polymorphous, 4">Corneal dystrophy, posterior polymorphous, 4</a></span></li><li><span class="TLline"><a href="/medgen/343836" ref="tree=MeSH" title="MedGen record for Posterior polymorphous corneal dystrophy 1">Posterior polymorphous corneal dystrophy 1</a></span></li><li><span class="TLline"><a href="/medgen/377757" ref="tree=MeSH" title="MedGen record for Posterior polymorphous corneal dystrophy 2">Posterior polymorphous corneal dystrophy 2</a></span></li><li><span class="TLline"><a href="/medgen/322978" ref="tree=MeSH" title="MedGen record for Posterior polymorphous corneal dystrophy 3">Posterior polymorphous corneal dystrophy 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/413518" ref="tree=MeSH" title="MedGen record for X-linked endothelial corneal dystrophy">X-linked endothelial corneal dystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1863898" ref="tree=MeSH" title="MedGen record for Gelatinous drop-like dystrophic cornea">Gelatinous drop-like dystrophic cornea</a></span></li><li><span class="TLline"><a href="/medgen/90939" ref="tree=MeSH" title="MedGen record for Gelatinous droplike corneal dystrophy">Gelatinous droplike corneal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/42290" ref="tree=MeSH" title="MedGen record for Granular corneal dystrophy">Granular corneal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/3618" ref="tree=MeSH" title="MedGen record for Hereditary corneal dystrophy">Hereditary corneal dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/83283" ref="tree=MeSH" title="MedGen record for Meesmann corneal dystrophy">Meesmann corneal dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/1684668" ref="tree=MeSH" title="MedGen record for Corneal dystrophy, Meesmann, 1">Corneal dystrophy, Meesmann, 1</a></span></li><li><span class="TLline"><a href="/medgen/1684798" ref="tree=MeSH" title="MedGen record for Corneal dystrophy, Meesmann, 2">Corneal dystrophy, Meesmann, 2</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/56355" ref="tree=MeSH" title="MedGen record for Lattice corneal dystrophy">Lattice corneal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/870335" ref="tree=MeSH" title="MedGen record for Marginal corneal dystrophy">Marginal corneal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/870342" ref="tree=MeSH" title="MedGen record for Mosaic corneal dystrophy">Mosaic corneal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/870352" ref="tree=MeSH" title="MedGen record for Punctate corneal dystrophy">Punctate corneal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/867478" ref="tree=MeSH" title="MedGen record for Speckled corneal dystrophy">Speckled corneal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1842949" ref="tree=MeSH" title="MedGen record for Syndromic corneal dystrophy">Syndromic corneal dystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/946156" ref="tree=MeSH" title="MedGen record for Brittle cornea syndrome">Brittle cornea syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/78661" ref="tree=MeSH" title="MedGen record for Brittle cornea syndrome 1">Brittle cornea syndrome 1</a></span></li><li><span class="TLline"><a href="/medgen/481641" ref="tree=MeSH" title="MedGen record for Brittle cornea syndrome 2">Brittle cornea syndrome 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1798878" ref="tree=MeSH" title="MedGen record for Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome">Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome</a></span></li><li><span class="TLline"><a href="/medgen/387858" ref="tree=MeSH" title="MedGen record for Corneal dystrophy-perceptive deafness syndrome">Corneal dystrophy-perceptive deafness syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341379" ref="tree=MeSH" title="MedGen record for Corneal-cerebellar syndrome">Corneal-cerebellar syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82794" ref="tree=MeSH" title="MedGen record for de Barsy syndrome">de Barsy syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/1720006" ref="tree=MeSH" title="MedGen record for ALDH18A1-related de Barsy syndrome">ALDH18A1-related de Barsy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/482429" ref="tree=MeSH" title="MedGen record for PYCR1-related de Barsy syndrome">PYCR1-related de Barsy syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/301243" ref="tree=MeSH" title="MedGen record for Finnish type amyloidosis">Finnish type amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/98151" ref="tree=MeSH" title="MedGen record for Francois syndrome">Francois syndrome</a></span></li><li><span class="TLline"><a href="/medgen/242751" ref="tree=MeSH" title="MedGen record for Iridocorneal endothelial syndrome">Iridocorneal endothelial syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/107777" ref="tree=MeSH" title="MedGen record for Chandler syndrome">Chandler syndrome</a></span></li><li><span class="TLline"><a href="/medgen/218910" ref="tree=MeSH" title="MedGen record for Cogan-Reese syndrome">Cogan-Reese syndrome</a></span></li><li><span class="TLline"><a href="/medgen/543177" ref="tree=MeSH" title="MedGen record for Essential iris atrophy">Essential iris atrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1830326" ref="tree=MeSH" title="MedGen record for LCAT deficiency">LCAT deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/83354" ref="tree=MeSH" title="MedGen record for Fish-eye disease">Fish-eye disease</a></span></li><li><span class="TLline"><a href="/medgen/9698" ref="tree=MeSH" title="MedGen record for Norum disease">Norum disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82695" ref="tree=MeSH" title="MedGen record for Mietens syndrome">Mietens syndrome</a></span></li><li><span class="TLline"><a href="/medgen/419313" ref="tree=MeSH" title="MedGen record for Ocular cystinosis">Ocular cystinosis</a></span></li><li><span class="TLline"><a href="/medgen/163222" ref="tree=MeSH" title="MedGen record for Oculodental syndrome, Rutherfurd type">Oculodental syndrome, Rutherfurd type</a></span></li><li><span class="TLline"><a href="/medgen/331604" ref="tree=MeSH" title="MedGen record for Ophthalmomandibulomelic dysplasia">Ophthalmomandibulomelic dysplasia</a></span></li><li><span class="TLline"><a href="/medgen/336493" ref="tree=MeSH" title="MedGen record for Spastic ataxia-corneal dystrophy syndrome">Spastic ataxia-corneal dystrophy syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1714019" ref="tree=MeSH" title="MedGen record for Spondylometaphyseal dysplasia with corneal dystrophy">Spondylometaphyseal dysplasia with corneal dystrophy</a></span></li><li><span class="TLline"><a href="/medgen/342260" ref="tree=MeSH" title="MedGen record for Stern-Lubinsky-Durrie syndrome">Stern-Lubinsky-Durrie syndrome</a></span></li><li><span class="TLline"><a href="/medgen/375481" ref="tree=MeSH" title="MedGen record for X-linked corneal dermoid">X-linked corneal dermoid</a></span></li><li><span class="TLline"><a href="/medgen/86937" ref="tree=MeSH" title="MedGen record for X-linked ichthyosis with steryl-sulfatase deficiency">X-linked ichthyosis with steryl-sulfatase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/336844" ref="tree=MeSH" title="MedGen record for X-linked reticulate pigmentary disorder">X-linked reticulate pigmentary disorder</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=10347&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Corneal dystrophy</span> in Orphanet.</div></div></div>
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<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>
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<div class="divPopper rprt" id="rdis_8083"><div><strong>Fabry disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8083</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.">C0002986</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Fabry disease is the most common of the lysosomal storage disorders and results from deficient activity of the enzyme alpha-galactosidase A (a-Gal A), leading to progressive lysosomal deposition of globotriaosylceramide and its derivatives in cells throughout the body. The classic form, occurring in males with less than 1% a-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhidrosis, hypohidrosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of kidney function to end-stage kidney disease (ESKD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESKD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, females may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, late-onset forms occur in males with greater than 1% a-Gal A activity. Clinical manifestations include cardiac disease, which usually presents in the sixth to eighth decade with left ventricular hypertrophy, cardiomyopathy, arrhythmia, and proteinuria; kidney failure, associated with ESKD but without the skin lesions or pain; or cerebrovascular disease presenting as stroke or transient ischemic attack.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/8083">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_124391"><div><strong>Schnyder crystalline corneal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>124391</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.">C0271287</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Schnyder corneal dystrophy (SCCD), also known as Schnyder crystalline corneal dystrophy, is an autosomal dominant eye disease characterized by abnormal deposition of cholesterol and phospholipids in the cornea. The consequent corneal opacification is progressive and bilateral, resulting in glare and loss of vision that is postulated to be caused by light scattering. Patients demonstrate a characteristic pattern of corneal opacification dependent on age, and only half have crystalline corneal cholesterol deposits. Patients with noncrystalline disease have a more subtle presentation with only corneal haze, which may be difficult to diagnose (summary by Nickerson et al., 2013).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/124391">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_90939"><div><strong>Gelatinous droplike corneal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>90939</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.">C0339273</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Gelatinous drop-like corneal dystrophy is an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity, and lamellar keratoplasty is required for most patients (summary by Tsujikawa et al., 1999).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/90939">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_83284"><div><strong>Reis-Bucklers corneal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83284</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.">C0339278</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reis-Bucklers corneal dystrophy (CDRB) is an autosomal dominant disorder of the superficial corneal stroma that manifests as recurrent corneal erosions in early childhood. Affected individuals develop corneal opacities that result in significant visual impairment. Microscopically, CDRB may be differentiated from other forms of corneal dystrophy by confluent opacities in the Bowman layer and subepithelium, which are the product of extracellular bodies that stain red with Masson trichrome stain and appear as crystalloid rod-shaped bodies on transmission electron microscopy (summary by Tanhehco et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83284">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98151"><div><strong>Francois syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98151</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.">C0432288</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dermochondrocorneal dystrophy, or Francois syndrome, is a rare disorder characterized by the development of skin nodules, acquired deformities of the extremities, and a corneal dystrophy. The corneal dystrophy is central and superficial with whitish subepithelial opacities (summary by Bierly et al., 1992).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98151">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_99275"><div><strong>Epithelial basement membrane dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99275</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.">C0521723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epithelial basement membrane corneal dystrophy (EBMD) is a common bilateral epithelial dystrophy characterized mainly by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. Slit lamp examination may reveal dots, maps, grayish epithelial fingerprint lines, blebs, nets, or any combination of these patterns. Histologic analysis shows abnormal redundant basement membrane and intraepithelial lacunae filled with cellular debris. Most patients are asymptomatic before the age of 30 years; some may have recurrent erosions, the frequency of which declines with age, and a loss of vision due to surface irregularity (summary by Boutboul et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99275">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_99347"><div><strong>Mulibrey nanism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99347</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.">C0524582</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mulibrey nanism (MUL) is a rare autosomal recessive growth disorder with prenatal onset, including occasional progressive cardiomyopathy, characteristic facial features, failure of sexual maturation, insulin resistance with type 2 diabetes, and an increased risk for Wilms tumor (summary by Hamalainen et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99347">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_163222"><div><strong>Oculodental syndrome, Rutherfurd type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163222</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.">C0796140</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163222">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_287070"><div><strong>Thiel-Behnke corneal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>287070</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.">C1562894</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Thiel-Behnke corneal dystrophy (CDTB) is characterized by progressive honeycomb-like, subepithelial corneal opacities with recurrent erosions (Thiel and Behnke, 1967).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/287070">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_302006"><div><strong>Central cloudy dystrophy of Francois</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>302006</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.">C1622427</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Central cloudy dystrophy of François is a very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/302006">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_351514"><div><strong>Macular corneal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>351514</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.">C1636149</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into 2 subtypes, type I and type II, defined by the respective absence and presence of sulfated keratan sulfate in the patient serum, although both types have clinically indistinguishable phenotypes (summary by Akama et al., 2000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/351514">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_322978"><div><strong>Posterior polymorphous corneal dystrophy 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322978</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.">C1836724</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior polymorphous corneal dystrophy-3 (PPCD3) is a rare disorder involving metaplasia and overgrowth of corneal endothelial cells (Krafchak et al., 2005). In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and sometimes spread over the iris and nearby structures in a way that increases the risk for glaucoma. Symptoms range from very aggressive to asymptomatic and nonprogressive, even within the same family. The age of diagnosis is most often in the second or third decade of life. PPCD3 is often associated with corneal steepening, and some patients may be diagnosed with keratoconus before PPCD (Fernandez-Gutierrez et al., 2023). Retrocorneal membranes have been reported, sometimes extending onto the lens (Moroi et al., 2003). For a discussion of genetic heterogeneity of posterior polymorphous corneal dystrophy, see PPCD1 (122000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322978">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336493"><div><strong>Spastic ataxia-corneal dystrophy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336493</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.">C1849085</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Extremely rare syndrome with features of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. It has been described in an inbred Bedouin family. Immunological abnormalities were frequent. Transmission is autosomal recessive and the disease is monogenic.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336493">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341379"><div><strong>Corneal-cerebellar syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341379</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.">C1849087</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Syndrome with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of who had only minor spinocerebellar signs without ocular involvement. This autosomal recessive syndrome differs from the Mousa-Al-Din-Al-Nassar syndrome by the subnormal intellectual development and the epithelial (versus stromal) nature of the corneal dystrophy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341379">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338172"><div><strong>Corneal dystrophy, Fuchs endothelial, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338172</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.">C1850959</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fuchs endothelial corneal dystrophy (FECD) is a progressive, bilateral condition characterized by dysfunction of the corneal epithelium, leading to reduced vision. The prevalence of FECD has been estimated at about 5% among persons over the age of 40 years in the United States. The vision loss in patients with FECD results from a loss of corneal transparency associated with irregularity of inner corneal layers in early disease and edema of the cornea in advanced disease. Ultrastructural features of FECD include loss and attenuation of endothelial cells, with thickening and excrescences of the underlying basement membrane. These excrescences, called guttae, are the clinical hallmark of FECD and become more numerous with progression of the disease. As the endothelial layer develops confluent guttae in the central cornea, the cells are no longer able to keep the cornea dehydrated and clear (summary by Baratz et al., 2010). Genetic Heterogeneity of Fuchs Endothelial Corneal Dystrophy More common, late-onset forms of FECD have been shown to be caused by mutation in the SLC4A11 gene (610206) on chromosome 20p13 (FECD4; 613268), in the ZEB1 gene (189909) on chromosome 10p11.2 (FECD6; 613270), and in the AGBL1 gene (615496) on chromosome 15q25 (FECD8; 615523). Other loci for late-onset FECD have been identified on chromosomes 13pter-q12.13 (FECD2; 610158), 18q21.2-q21.32 (FECD3; 613267), 5q33.1-q35.2 (FECD5; 613269), and 9p (FECD7; 613271).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338172">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_377757"><div><strong>Posterior polymorphous corneal dystrophy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>377757</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.">C1852795</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Posterior polymorphous corneal dystrophy-2 (PPCD2) is characterized by formation of blister-like lesions within the corneal endothelium or by regions of endothelial basement membrane thickening with associated corneal edema. The normal amitotic endothelial cells are replaced by epithelial-like cells that possess abundant intermediate filaments, desmosomes, and microvilli. The endothelium becomes multilayered and the abnormally proliferating cells may extend outwards from the cornea over the trabecular meshwork to cause glaucoma (summary by Biswas et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of PPCD, see PPCD1 (122000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/377757">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_387857"><div><strong>Congenital hereditary endothelial dystrophy of cornea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387857</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.">C1857569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital hereditary endothelial dystrophy II (CHED II) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth with nystagmus, and blurred vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/387857">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_387858"><div><strong>Corneal dystrophy-perceptive deafness syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387858</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.">C1857572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Harboyan syndrome, or corneal dystrophy and perceptive deafness (CDPD), consists of congenital corneal endothelial dystrophy and progressive sensorineural deafness, and is transmitted as an autosomal recessive trait (summary by Desir et al., 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/387858">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347552"><div><strong>Corneal dystrophy, fuchs endothelial, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347552</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.">C1857800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Late-onset Fuchs endothelial corneal dystrophy (FECD) is a degenerative disorder affecting roughly 4% of the population older than 40 years. It is distinguished from other corneal disorders by the progressive formation of guttae, which are microscopic refractile excrescences of the Descemet membrane, a collagen-rich basal lamina secreted by the corneal endothelium. From onset, it usually takes 2 decades for FECD to impair endothelial cell function seriously, leading to stromal edema and impaired vision (Sundin et al., 2006). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347552">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400601"><div><strong>Congenital stromal corneal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400601</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:">C1864738</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital stromal corneal dystrophy is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. The surface of the cornea is normal or slightly irregular; small opacities are seen throughout the stroma of the entire cornea and give the cornea a cloudy appearance. Strabismus is common. Nystagmus is uncommon. Amblyopia can develop in children.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400601">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_412567"><div><strong>Posterior amorphous corneal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>412567</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.">C2748502</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare form of stromal corneal dystrophy with characteristics of irregular amorphous sheet-like opacities in the posterior corneal stroma and in the Descemet membrane along with mildly impaired vision. Prevalence of this form of corneal dystrophy is not known. To date cases have been reported primarily in the USA. Patients usually develop corneal abnormalities in infancy or childhood. The condition is non-progressive or slowly progressive. Unlike other corneal dystrophies, non-corneal manifestations have been observed and include abnormalities of the iris including iridocorneal adhesions, corectopia, and pseudopolycoria. An autosomal dominant pattern of inheritance has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/412567">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413518"><div><strong>X-linked endothelial corneal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413518</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.">C2749049</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare subtype of posterior corneal dystrophy with characteristics of congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. Prevalence of this rare corneal dystrophy is unknown. Males are affected more severely than females. The condition is progressive in males and non-progressive in females. Has been mapped to the long arm of the X-chromosome (Xq25) but the causative gene has not been identified. Transmission is X-linked recessive.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413518">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_442478"><div><strong>Corneal dystrophy, Fuchs endothelial, 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>442478</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.">C2750448</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). Patients with keratoconus have been observed (Lechner et al., 2013). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/442478">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_413309"><div><strong>Corneal dystrophy, Fuchs endothelial, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413309</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.">C2750450</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413309">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816128"><div><strong>Corneal dystrophy, Fuchs endothelial, 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816128</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.">C3809798</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of FECD, see FECD1 (136800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816128">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_854384"><div><strong>Keratosis follicularis spinulosa decalvans, X-linked</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854384</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.">C3887525</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Keratosis follicularis spinulosa decalvans is an uncommon genodermatosis chiefly characterized by widespread keratosis pilaris, progressive cicatricial alopecia of the scalp, eyebrows, and eyelashes, and an excess of affected males. Photophobia, blepharitis/conjunctivitis, and corneal dystrophy are characteristic ancillary findings. It is most often inherited as an X-linked trait (summary by Castori et al., 2009). Autosomal dominant inheritance has also been reported (KFSD; 612843). The term 'cum ophiasi' means 'with ophiasis,' i.e., baldness in 1 or more winding streaks about the head, which comes from the Greek for snake. Decalvans refers to the loss of hair.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/854384">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1615526"><div><strong>Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1615526</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.">C4540367</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1615526">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684668"><div><strong>Corneal dystrophy, Meesmann, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684668</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.">C5231499</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/1684668">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_302006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central cloudy dystrophy of Francois</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_387857" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital hereditary endothelial dystrophy of cornea</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400601" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital stromal corneal dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338172" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal dystrophy, Fuchs endothelial, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347552" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal dystrophy, fuchs endothelial, 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (28)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413309" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal dystrophy, Fuchs endothelial, 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_442478" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal dystrophy, Fuchs endothelial, 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816128" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal dystrophy, Fuchs endothelial, 8</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684668" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal dystrophy, Meesmann, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_387858" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal dystrophy-perceptive deafness syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341379" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal-cerebellar syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_99275" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epithelial basement membrane dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_8083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fabry disease</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Francois syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_90939" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gelatinous droplike corneal dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_854384" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Keratosis follicularis spinulosa decalvans, X-linked</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_351514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macular corneal dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_99347" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mulibrey nanism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_163222" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculodental syndrome, Rutherfurd type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_412567" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posterior amorphous corneal dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_377757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posterior polymorphous corneal dystrophy 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_322978" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Posterior polymorphous corneal dystrophy 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83284" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reis-Bucklers corneal dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1615526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_124391" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Schnyder crystalline corneal dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336493" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic ataxia-corneal dystrophy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_287070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thiel-Behnke corneal dystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413518" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked endothelial corneal dystrophy</a></div></span></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/36877777">Topical Losartan: Practical Guidance for Clinical Trials in the Prevention and Treatment of Corneal Scarring Fibrosis and Other Eye Diseases and Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilson SE</span><br />
|
||
<span class="medgenPMjournal">J Ocul Pharmacol Ther</span>
|
||
2023 Apr;39(3):191-206.
|
||
Epub 2023 Mar 6
|
||
doi: 10.1089/jop.2022.0174.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36877777" target="_blank">36877777</a><a href="/pmc/articles/PMC10079252" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33846576">Transcorneal freezing and topical Rho-kinase inhibitor treatment in Fuchs endothelial corneal dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Menzel-Severing J,
|
||
Schrader S,
|
||
Schlötzer-Schrehardt U,
|
||
Geerling G</span><br />
|
||
<span class="medgenPMjournal">Eye (Lond)</span>
|
||
2022 Apr;36(4):891-893.
|
||
Epub 2021 Apr 12
|
||
doi: 10.1038/s41433-021-01520-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33846576" target="_blank">33846576</a><a href="/pmc/articles/PMC8956712" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32977001">Corneal endothelial dysfunction: Evolving understanding and treatment options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Price MO,
|
||
Mehta JS,
|
||
Jurkunas UV,
|
||
Price FW Jr</span><br />
|
||
<span class="medgenPMjournal">Prog Retin Eye Res</span>
|
||
2021 May;82:100904.
|
||
Epub 2020 Sep 22
|
||
doi: 10.1016/j.preteyeres.2020.100904.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32977001" target="_blank">32977001</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22corneal%20dystrophy%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 (48)</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/38359414">IC3D Classification of Corneal Dystrophies-Edition 3.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weiss JS,
|
||
Rapuano CJ,
|
||
Seitz B,
|
||
Busin M,
|
||
Kivelä TT,
|
||
Bouheraoua N,
|
||
Bredrup C,
|
||
Nischal KK,
|
||
Chawla H,
|
||
Borderie V,
|
||
Kenyon KR,
|
||
Kim EK,
|
||
Møller HU,
|
||
Munier FL,
|
||
Berger T,
|
||
Lisch W</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2024 Apr 1;43(4):466-527.
|
||
Epub 2024 Feb 12
|
||
doi: 10.1097/ICO.0000000000003420.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38359414" target="_blank">38359414</a><a href="/pmc/articles/PMC10906208" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38264539">The Role of Rho Kinase Inhibitors in Corneal Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Futterknecht S,
|
||
Chatzimichail E,
|
||
Gugleta K,
|
||
Panos GD,
|
||
Gatzioufas Z</span><br />
|
||
<span class="medgenPMjournal">Drug Des Devel Ther</span>
|
||
2024;18:97-108.
|
||
Epub 2024 Jan 19
|
||
doi: 10.2147/DDDT.S435522.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38264539" target="_blank">38264539</a><a href="/pmc/articles/PMC10804875" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34179572">Corneal dystrophies: pathophysiological, genetic, clinical, and therapeutic considerations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Constantin C</span><br />
|
||
<span class="medgenPMjournal">Rom J Ophthalmol</span>
|
||
2021 Apr-Jun;65(2):104-108.
|
||
doi: 10.22336/rjo.2021.22.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34179572" target="_blank">34179572</a><a href="/pmc/articles/PMC8207873" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31263352">REVIEW: Current understanding of the pathogenesis of Fuchs' endothelial corneal dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nanda GG,
|
||
Alone DP</span><br />
|
||
<span class="medgenPMjournal">Mol Vis</span>
|
||
2019;25:295-310.
|
||
Epub 2019 Jun 5
|
||
<span class="bold">PMID: </span><a href="/pubmed/31263352" target="_blank">31263352</a><a href="/pmc/articles/PMC6571125" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28525563">Omics Biomarkers in Ophthalmology.</a></div>
|
||
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</div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/37603692">Systematic Review of the Diagnostic Criteria and Severity Classification for Fuchs Endothelial Corneal Dystrophy.</a></div>
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Yamaguchi T,
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<div class="nl"><a target="_blank" href="/pubmed/34879044">Descemetorhexis Without Endothelial Keratoplasty in Fuchs Endothelial Corneal Dystrophy: A Systematic Review and Meta-Analysis.</a></div>
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Dutheil F,
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<div class="portlet_content ln"><span class="medgenPMauthor">Rocha-de-Lossada C,
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Rachwani-Anil R,
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<span class="bold">PMID: </span><a href="/pubmed/31865313" target="_blank">31865313</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/26068612">A year of cornea in review: 2013.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Arbelaez JG,
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Feng MT,
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Pena TJ,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Corneal%20dystrophy%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 (15)</a></div></div>
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||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
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|
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|
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</div>
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</div>
|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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|
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<div>
|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0010036%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (6)</a></li>
|
||
<li><a href="/gtr/tests?term=C0010036%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0010036%5bDISCUI%5d" target="_blank">See all (7)</a></total></li>
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</ul></div>
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</div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=34533" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Corneal%20dystrophy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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