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<meta name="keywords" content="C0339278, anterior limiting membrane dystrophy type 1, anterior limiting membrane dystrophy type i, atypical granular corneal dystrophy, cdb type i corneal dystrophy, cdb1, cdrb, corneal dystrophy geographic, corneal dystrophy of bowman layer type 1, corneal dystrophy of bowman layer type i, corneal dystrophy of bowman layer, type 1, corneal dystrophy of bowman layer, type i, corneal dystrophy reis bucklers type, corneal dystrophy, geographic, corneal dystrophy, reis-bucklers type, disease or syndrome, geographic corneal dystrophy, granular corneal dystrophy type 3, granular corneal dystrophy type iii, granular corneal dystrophy, type 3, granular corneal dystrophy, type iii, rbcd, reis bucklers corneal dystrophy, reis bucklers dystrophy, reis-bucklers corneal dystrophy, reis-bucklers dystrophy, reis-bucklers' corneal dystrophy, reis-bücklers corneal dystrophy, superficial granular corneal dystrophy, tgfbi, 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="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)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=83284
|
||
ConceptID=C0339278
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Reis-Bucklers corneal dystrophy<span class="h1sub">(CDRB)</span></div></h1><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."><span class="highlight" style="background-color:">C0339278</span></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>CDRB; Corneal dystrophy geographic; Corneal Dystrophy of Bowman Layer, Type 1; Corneal dystrophy Reis Bucklers type; GRANULAR CORNEAL DYSTROPHY, TYPE III; Reis Bucklers dystrophy; Reis-Bucklers' corneal dystrophy</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>CDB type I corneal dystrophy (231930000); Reis-Bucklers' corneal dystrophy (231930000)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<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="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></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="TGFBI - ID: 7045 - NCBI Gene" href="/gene/7045" class="medgenPMinfo">TGFBI</a> (5q31.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012043" target="_blank">MONDO:0012043</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/608470" target="_blank">608470</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=98961">ORPHA98961</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">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). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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||
<div class="divPopper rprt" id="clin_43220"><div><strong>Photophobia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43220</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.">C0085636</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43220">Feature record</a> | <a href="/medgen?term=%22Photophobia%22%5BClinical%20Features%5D%20OR%2043220%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57877"><div><strong>Palpebral edema</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57877</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.">C0162285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Edema in the region of the eyelids.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57877">Feature record</a> | <a href="/medgen?term=%22Palpebral%20edema%22%5BClinical%20Features%5D%20OR%2057877%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_3619"><div><strong>Corneal dystrophy</strong><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></div>
|
||
<div class="spaceAbove">The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/3619">Feature record</a> | <a href="/medgen?term=%22Corneal%20dystrophy%22%5BClinical%20Features%5D%20OR%203619%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_40485"><div><strong>Corneal opacity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40485</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.">C0010038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction of corneal clarity.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/40485">Feature record</a> | <a href="/medgen?term=%22Corneal%20opacity%22%5BClinical%20Features%5D%20OR%2040485%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</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.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65889"><div><strong>Reduced visual acuity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65889</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.">C0234632</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diminished clarity of vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65889">Feature record</a> | <a href="/medgen?term=%22Reduced%20visual%20acuity%22%5BClinical%20Features%5D%20OR%2065889%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_97882"><div><strong>Corneal erosion</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>97882</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.">C0392163</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An erosion or abrasion of the cornea's outermost layer of epithelial cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/97882">Feature record</a> | <a href="/medgen?term=%22Corneal%20erosion%22%5BClinical%20Features%5D%20OR%2097882%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_602191"><div><strong>Opacification of the corneal stroma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>602191</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0423250</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced transparency of the stroma of cornea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/602191">Feature record</a> | <a href="/medgen?term=%22Opacification%20of%20the%20corneal%20stroma%22%5BClinical%20Features%5D%20OR%20602191%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57877" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Palpebral edema</a></span></li></ul></li><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_3619" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal dystrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_97882" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal erosion</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_40485" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Corneal opacity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_602191" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Opacification of the corneal stroma</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced visual acuity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43220" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Photophobia</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><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=C0339278[DISCUI]&test_type=Clinical" ref="ncbi_uid=83284">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=83284" target="_blank" href="/omim/601692">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=83284" ref="ncbi_uid=83284">V</a></span></span><span class="TLline">Reis-Bucklers corneal dystrophy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/746687" ref="tree=MeSH" title="MedGen record for Superficial corneal dystrophy">Superficial corneal dystrophy</a></span><ul><li><span class="matched_ds">Reis-Bucklers corneal dystrophy</span></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=13978&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Reis-Bucklers corneal dystrophy</span> in Orphanet.</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/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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22reis-bucklers%20corneal%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 (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/38871017">Anterior segment optical coherence tomography for superficial keratectomy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wang ZW,
|
||
Yin XF,
|
||
Wang CX,
|
||
Wang HZ,
|
||
Zhou SY</span><br />
|
||
<span class="medgenPMjournal">Photodiagnosis Photodyn Ther</span>
|
||
2024 Aug;48:104237.
|
||
Epub 2024 Jun 12
|
||
doi: 10.1016/j.pdpdt.2024.104237.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38871017" target="_blank">38871017</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38735449">Recurrence Characteristics on Optical Coherence Tomography and Treatments of Reis-Bücklers Corneal Dystrophy After Phototherapeutic Keratectomy or Penetrating Keratoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li D,
|
||
Tian LE,
|
||
Wang X,
|
||
Zhang F,
|
||
Liu T,
|
||
Dong Y,
|
||
Lin P,
|
||
Li D,
|
||
Sun D,
|
||
Chen M</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Oct;266:37-45.
|
||
Epub 2024 May 11
|
||
doi: 10.1016/j.ajo.2024.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38735449" target="_blank">38735449</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30296329">Sequential Customized Therapeutic Keratectomy for Reis-Bücklers' Corneal Dystrophy: Long-term Follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vinciguerra P,
|
||
Vinciguerra R,
|
||
Randleman JB,
|
||
Torres I,
|
||
Morenghi E,
|
||
Camesasca FI</span><br />
|
||
<span class="medgenPMjournal">J Refract Surg</span>
|
||
2018 Oct 1;34(10):682-688.
|
||
doi: 10.3928/1081597X-20180829-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30296329" target="_blank">30296329</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8148141">Phototherapeutic keratectomy for Reis Bucklers' corneal dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers C,
|
||
Cohen P,
|
||
Lawless M</span><br />
|
||
<span class="medgenPMjournal">Aust N Z J Ophthalmol</span>
|
||
1993 Nov;21(4):247-50.
|
||
doi: 10.1111/j.1442-9071.1993.tb00963.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8148141" target="_blank">8148141</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/306753">Treatment of Reis-Bücklers' corneal dystrophy by removal of subepithelial fibrous tissue.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wood TO,
|
||
Fleming JC,
|
||
Dotson RS,
|
||
Cotten MS</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1978 Mar;85(3):360-2.
|
||
doi: 10.1016/s0002-9394(14)77730-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/306753" target="_blank">306753</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reis-Bucklers%20corneal%20dystrophy%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 (11)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38735449">Recurrence Characteristics on Optical Coherence Tomography and Treatments of Reis-Bücklers Corneal Dystrophy After Phototherapeutic Keratectomy or Penetrating Keratoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li D,
|
||
Tian LE,
|
||
Wang X,
|
||
Zhang F,
|
||
Liu T,
|
||
Dong Y,
|
||
Lin P,
|
||
Li D,
|
||
Sun D,
|
||
Chen M</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Oct;266:37-45.
|
||
Epub 2024 May 11
|
||
doi: 10.1016/j.ajo.2024.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38735449" target="_blank">38735449</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37713662">Clinical and Optical Coherence Tomography Correlation of Recurrence Patterns After Femtosecond Laser-Assisted Anterior Lamellar Keratoplasty in Reis-Bucklers Corneal Dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chaurasia S,
|
||
Mishra DK,
|
||
Murthy S,
|
||
Das R,
|
||
Edward DP,
|
||
Ramappa M</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2024 Apr 1;43(4):459-465.
|
||
Epub 2023 Sep 14
|
||
doi: 10.1097/ICO.0000000000003387.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37713662" target="_blank">37713662</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24662393">Reis-Bücklers corneal dystrophy: a reappraisal using in vivo and ex vivo imaging techniques.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liang Q,
|
||
Pan Z,
|
||
Sun X,
|
||
Baudouin C,
|
||
Labbé A</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Res</span>
|
||
2014;51(4):187-95.
|
||
Epub 2014 Mar 20
|
||
doi: 10.1159/000358805.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24662393" target="_blank">24662393</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21899585">TGFBI gene mutation in a Chinese pedigree with Reis-Bücklers corneal dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liang Q,
|
||
Sun X,
|
||
Jin X</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Physiol Opt</span>
|
||
2012 Jan;32(1):74-80.
|
||
Epub 2011 Sep 8
|
||
doi: 10.1111/j.1475-1313.2011.00867.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21899585" target="_blank">21899585</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2694746">Granular corneal dystrophy Groenouw type I (GrI) and Reis-Bücklers' corneal dystrophy (R-B). One entity?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Møller HU</span><br />
|
||
<span class="medgenPMjournal">Acta Ophthalmol (Copenh)</span>
|
||
1989 Dec;67(6):678-84.
|
||
doi: 10.1111/j.1755-3768.1989.tb04401.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2694746" target="_blank">2694746</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reis-Bucklers%20corneal%20dystrophy%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/38735449">Recurrence Characteristics on Optical Coherence Tomography and Treatments of Reis-Bücklers Corneal Dystrophy After Phototherapeutic Keratectomy or Penetrating Keratoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li D,
|
||
Tian LE,
|
||
Wang X,
|
||
Zhang F,
|
||
Liu T,
|
||
Dong Y,
|
||
Lin P,
|
||
Li D,
|
||
Sun D,
|
||
Chen M</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Oct;266:37-45.
|
||
Epub 2024 May 11
|
||
doi: 10.1016/j.ajo.2024.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38735449" target="_blank">38735449</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30296329">Sequential Customized Therapeutic Keratectomy for Reis-Bücklers' Corneal Dystrophy: Long-term Follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vinciguerra P,
|
||
Vinciguerra R,
|
||
Randleman JB,
|
||
Torres I,
|
||
Morenghi E,
|
||
Camesasca FI</span><br />
|
||
<span class="medgenPMjournal">J Refract Surg</span>
|
||
2018 Oct 1;34(10):682-688.
|
||
doi: 10.3928/1081597X-20180829-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30296329" target="_blank">30296329</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26509759">Femtosecond Laser-Assisted Lamellar Keratectomy for Corneal Opacities Secondary to Anterior Corneal Dystrophies: An Interventional Case Series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steger B,
|
||
Romano V,
|
||
Biddolph S,
|
||
Willoughby CE,
|
||
Batterbury M,
|
||
Kaye SB</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2016 Jan;35(1):6-13.
|
||
doi: 10.1097/ICO.0000000000000665.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26509759" target="_blank">26509759</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22967865">Clinical outcomes of phototherapeutic keratectomy in eyes with Thiel-Behnke corneal dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hieda O,
|
||
Kawasaki S,
|
||
Wakimasu K,
|
||
Yamasaki K,
|
||
Inatomi T,
|
||
Kinoshita S</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2013 Jan;155(1):66-72.e1.
|
||
Epub 2012 Sep 8
|
||
doi: 10.1016/j.ajo.2012.06.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22967865" target="_blank">22967865</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11095060">Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujiki K,
|
||
Hotta Y,
|
||
Nakayasu K,
|
||
Yamaguchi T,
|
||
Kato T,
|
||
Uesugi Y,
|
||
Ha NT,
|
||
Endo S,
|
||
Ishida N,
|
||
Lu WN,
|
||
Kanai A</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2000 Nov;19(6):842-5.
|
||
doi: 10.1097/00003226-200011000-00015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11095060" target="_blank">11095060</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reis-Bucklers%20corneal%20dystrophy%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 (5)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38735449">Recurrence Characteristics on Optical Coherence Tomography and Treatments of Reis-Bücklers Corneal Dystrophy After Phototherapeutic Keratectomy or Penetrating Keratoplasty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li D,
|
||
Tian LE,
|
||
Wang X,
|
||
Zhang F,
|
||
Liu T,
|
||
Dong Y,
|
||
Lin P,
|
||
Li D,
|
||
Sun D,
|
||
Chen M</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2024 Oct;266:37-45.
|
||
Epub 2024 May 11
|
||
doi: 10.1016/j.ajo.2024.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38735449" target="_blank">38735449</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30296329">Sequential Customized Therapeutic Keratectomy for Reis-Bücklers' Corneal Dystrophy: Long-term Follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vinciguerra P,
|
||
Vinciguerra R,
|
||
Randleman JB,
|
||
Torres I,
|
||
Morenghi E,
|
||
Camesasca FI</span><br />
|
||
<span class="medgenPMjournal">J Refract Surg</span>
|
||
2018 Oct 1;34(10):682-688.
|
||
doi: 10.3928/1081597X-20180829-01.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30296329" target="_blank">30296329</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26509759">Femtosecond Laser-Assisted Lamellar Keratectomy for Corneal Opacities Secondary to Anterior Corneal Dystrophies: An Interventional Case Series.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steger B,
|
||
Romano V,
|
||
Biddolph S,
|
||
Willoughby CE,
|
||
Batterbury M,
|
||
Kaye SB</span><br />
|
||
<span class="medgenPMjournal">Cornea</span>
|
||
2016 Jan;35(1):6-13.
|
||
doi: 10.1097/ICO.0000000000000665.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26509759" target="_blank">26509759</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8148141">Phototherapeutic keratectomy for Reis Bucklers' corneal dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers C,
|
||
Cohen P,
|
||
Lawless M</span><br />
|
||
<span class="medgenPMjournal">Aust N Z J Ophthalmol</span>
|
||
1993 Nov;21(4):247-50.
|
||
doi: 10.1111/j.1442-9071.1993.tb00963.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8148141" target="_blank">8148141</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/306753">Treatment of Reis-Bücklers' corneal dystrophy by removal of subepithelial fibrous tissue.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wood TO,
|
||
Fleming JC,
|
||
Dotson RS,
|
||
Cotten MS</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1978 Mar;85(3):360-2.
|
||
doi: 10.1016/s0002-9394(14)77730-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/306753" target="_blank">306753</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reis-Bucklers%20corneal%20dystrophy%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24662393">Reis-Bücklers corneal dystrophy: a reappraisal using in vivo and ex vivo imaging techniques.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liang Q,
|
||
Pan Z,
|
||
Sun X,
|
||
Baudouin C,
|
||
Labbé A</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Res</span>
|
||
2014;51(4):187-95.
|
||
Epub 2014 Mar 20
|
||
doi: 10.1159/000358805.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24662393" target="_blank">24662393</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17198850">In vivo laser confocal microscopy findings for Bowman's layer dystrophies (Thiel-Behnke and Reis-Bücklers corneal dystrophies).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kobayashi A,
|
||
Sugiyama K</span><br />
|
||
<span class="medgenPMjournal">Ophthalmology</span>
|
||
2007 Jan;114(1):69-75.
|
||
doi: 10.1016/j.ophtha.2006.05.076.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17198850" target="_blank">17198850</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8604731">Mapping of Reis-Bücklers' corneal dystrophy to chromosome 5q.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Small KW,
|
||
Mullen L,
|
||
Barletta J,
|
||
Graham K,
|
||
Glasgow B,
|
||
Stern G,
|
||
Yee R</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1996 Apr;121(4):384-90.
|
||
doi: 10.1016/s0002-9394(14)70434-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8604731" target="_blank">8604731</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2625210">Linkage analysis in granular corneal dystrophy (Groenouw I), Schnyder's crystalline corneal dystrophy, and Reis-Bücklers' corneal dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kömpf J,
|
||
Ritter H,
|
||
Lisch W,
|
||
Weidle EG,
|
||
Baur MP</span><br />
|
||
<span class="medgenPMjournal">Graefes Arch Clin Exp Ophthalmol</span>
|
||
1989;227(6):538-40.
|
||
doi: 10.1007/BF02169448.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2625210" target="_blank">2625210</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Reis-Bucklers%20corneal%20dystrophy%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0339278%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C0339278%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C0339278%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0339278%5bDISCUI%5d" target="_blank">See all (15)</a></total></li>
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||
</ul></div>
|
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</div>
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||
|
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=608470" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=98961" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Reis-Bucklers%27%20corneal%20dystrophy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22reis-bucklers%20corneal%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">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=601692" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=7045[geneid]" target="_blank">View TGFBI variations in ClinVar</a></li><li><a href="/nuccore/255652922" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=608470" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
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</div>
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||
|
||
<div class="portlet mgSection" id="ID_116">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Corneal+Dystrophy+of+Bowman+Layer+Type+1/1910" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/corneal_dystrophy_reis_bucklers_type" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Reis-Bucklers%27%20corneal%20dystrophy" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9276/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
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|
||
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|
||
<div class="portlet_head">
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<h3>Reviews</h3>
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||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Reis-Bucklers%27%20corneal%20dystrophy" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Reis-Bucklers%27%20corneal%20dystrophy%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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||
</li>
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