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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><meta name="citation_inbook_title" content="GeneReviews® [Internet]" /><meta name="citation_title" content="Congenital Stromal Corneal Dystrophy" /><meta name="citation_publisher" content="University of Washington, Seattle" /><meta name="citation_date" content="2018/11/29" /><meta name="citation_author" content="Eyvind Rødahl" /><meta name="citation_author" content="Per M Knappskog" /><meta name="citation_author" content="Cecilie Bredrup" /><meta name="citation_author" content="Helge Boman" /><meta name="citation_pmid" content="20301741" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK2690/" /><meta name="citation_keywords" content="Decorin" /><meta name="citation_keywords" content="DCN" /><meta name="citation_keywords" content="Congenital Stromal Corneal Dystrophy" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Congenital Stromal Corneal Dystrophy" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="University of Washington, Seattle" /><meta name="DC.Contributor" content="Eyvind Rødahl" /><meta name="DC.Contributor" content="Per M Knappskog" /><meta name="DC.Contributor" content="Cecilie Bredrup" /><meta name="DC.Contributor" content="Helge Boman" /><meta name="DC.Date" content="2018/11/29" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK2690/" /><meta name="description" content="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." /><meta name="og:title" content="Congenital Stromal Corneal Dystrophy" /><meta name="og:type" content="book" /><meta name="og:description" content="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." /><meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK2690/" /><meta name="og:site_name" content="NCBI Bookshelf" /><meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" /><meta name="twitter:card" content="summary" /><meta name="twitter:site" content="@ncbibooks" /><meta name="bk-non-canon-loc" content="/books/n/gene/csc-dys/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK2690/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" media="print" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} .body-content h2, .body-content .h2 {border-bottom: 1px solid #97B0C8} .body-content h2.inline {border-bottom: none} a.page-toc-label , .jig-ncbismoothscroll a {text-decoration:none;border:0 !important} .temp-labeled-list .graphic {display:inline-block !important} .temp-labeled-list img{width:100%}</style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript" src="/corehtml/pmc/js/large-obj-scrollbars.min.js"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.min.js"> </script><script type="text/javascript">if (typeof (jQuery) != 'undefined') { (function ($) { $(function () { var min = Math.ceil(1); var max = Math.floor(100000); var randomNum = Math.floor(Math.random() * (max - min)) + min; var surveyUrl = "/projects/Gene/portal/surveys/seqdbui-survey.js?rando=" + randomNum.toString(); $.getScript(surveyUrl, function () { try { ncbi.seqDbUISurvey.init(); } catch (err) { console.info(err); } }).fail(function (jqxhr, settings, exception) { console.info('Cannot load survey script', jqxhr); });; }); })(jQuery); };</script><meta name="book-collection" content="NONE" />
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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. </p></div><div class="iconblock clearfix whole_rhythm no_top_margin bk_noprnt"><a class="img_link icnblk_img" title="All GeneReviews" href="/books/n/gene/"><img class="source-thumb" src="/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gene-lrg.png" alt="Cover of GeneReviews®" height="100px" width="80px" /></a><div class="icnblk_cntnt eight_col"><h2>GeneReviews<sup>®</sup> [Internet].</h2><a data-jig="ncbitoggler" href="#__NBK2690_dtls__">Show details</a><div style="display:none" class="ui-widget" id="__NBK2690_dtls__"><div>Adam MP, Feldman J, Mirzaa GM, et al., editors.</div><div>Seattle (WA): <a href="http://www.washington.edu" ref="pagearea=page-banner&targetsite=external&targetcat=link&targettype=publisher">University of Washington, Seattle</a>; 1993-2025.</div></div><div class="half_rhythm"><ul class="inline_list"><li style="margin-right:1em"><a class="bk_cntns" href="/books/n/gene/">GeneReviews by Title</a></li></ul></div><div class="bk_noprnt"><form method="get" action="/books/n/gene/" id="bk_srch"><div class="bk_search"><label for="bk_term" class="offscreen_noflow">Search term</label><input type="text" title="Search GeneReviews" id="bk_term" name="term" value="" data-jig="ncbiclearbutton" /> <input type="submit" class="jig-ncbibutton" value="Search GeneReviews" submit="false" style="padding: 0.1em 0.4em;" /></div></form><div><ul class="inline_list"><li><a href="/books/n/gene/advanced/">GeneReviews Advanced Search</a></li><li style="margin-left:.5em"><a href="/books/n/gene/helpadvsearch/">Help</a></li></ul></div></div></div><div class="icnblk_cntnt two_col"><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gene/nad-def/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gene/cdls/" title="Next page in this title">Next ></a></div></div></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK2690_"><span class="title" itemprop="name">Congenital Stromal Corneal Dystrophy</span></h1><p class="contrib-group"><span itemprop="author">Eyvind Rødahl</span>, MD, PhD, <span itemprop="author">Per M Knappskog</span>, PhD, <span itemprop="author">Cecilie Bredrup</span>, MD, PhD, and <span itemprop="author">Helge Boman</span>, MD, PhD.</p><a data-jig="ncbitoggler" href="#__NBK2690_ai__" style="border:0;text-decoration:none">Author Information and Affiliations</a><div style="display:none" class="ui-widget" id="__NBK2690_ai__"><div class="contrib half_rhythm"><span itemprop="author">Eyvind Rødahl</span>, MD, PhD<div class="affiliation small">Professor, Department of Ophthalmology
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||
Haukeland University Hospital
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||
Bergen, Norway<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="on.negreb-esleh@lhador.dnivye" class="oemail">on.negreb-esleh@lhador.dnivye</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Per M Knappskog</span>, PhD<div class="affiliation small">Professor, Center for Medical Genetics and Molecular Medicine
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Haukeland University Hospital
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Bergen, Norway<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="on.negreb-esleh@goksppank.netrom.rep" class="oemail">on.negreb-esleh@goksppank.netrom.rep</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Cecilie Bredrup</span>, MD, PhD<div class="affiliation small">Consultant, Department of Ophthalmology
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Haukeland University Hospital
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Bergen, Norway<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="on.negreb-esleh@purderb.eilicec" class="oemail">on.negreb-esleh@purderb.eilicec</a></div></div></div><div class="contrib half_rhythm"><span itemprop="author">Helge Boman</span>, MD, PhD<div class="affiliation small">Professor, Center for Medical Genetics and Molecular Medicine
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Haukeland University Hospital
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Bergen, Norway<div><span class="email-label">Email: </span><a href="mailto:dev@null" data-email="on.negreb-esleh@namob.egleh" class="oemail">on.negreb-esleh@namob.egleh</a></div></div></div></div><p class="small">Initial Posting: <span itemprop="datePublished">November 25, 2008</span>; Last Update: <span itemprop="dateModified">November 29, 2018</span>.</p><p><em>Estimated reading time: 15 minutes</em></p></div><div class="jig-ncbiinpagenav body-content whole_rhythm" data-jigconfig="allHeadingLevels: ['h2'],smoothScroll: false" itemprop="text"><div id="csc-dys.Summary" itemprop="description"><h2 id="_csc-dys_Summary_">Summary</h2><div><h4 class="inline">Clinical characteristics.</h4><p>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.</p></div><div><h4 class="inline">Diagnosis/testing.</h4><p>The diagnosis of <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> stromal corneal dystrophy is established in an individual with bilateral corneal opacities and characteristic findings on transmission electron microscopy. Identification of a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in <i>DCN</i> by <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> can confirm the diagnosis.</p></div><div><h4 class="inline">Management.</h4><p><i>Treatment of manifestations:</i> Spectacles or contact lenses for correction of refractive errors; patching and/or surgical correction of strabismus; penetrating or deep anterior lamellar keratoplasty.</p><p><i>Surveillance:</i> Routine ophthalmologic examination with visual acuity at least every year in children; regular surveillance in adults as needed in those treated with keratoplasty.</p></div><div><h4 class="inline">Genetic counseling.</h4><p>Congenital stromal corneal dystrophy is inherited in an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> manner. Most individuals diagnosed with <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> stromal corneal dystrophy have an affected parent. Each child of an affected individual has a 50% chance of inheriting the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>. If the variant has been identified in an affected family member, <a class="def" href="/books/n/gene/glossary/def-item/prenatal-testing/">prenatal testing</a> for a pregnancy at risk is possible.</p></div></div><div id="csc-dys.Diagnosis"><h2 id="_csc-dys_Diagnosis_">Diagnosis</h2><div id="csc-dys.Suggestive_Findings"><h3>Suggestive Findings</h3><p>Congenital stromal corneal dystrophy (CSCD) <b>should be suspected</b> in individuals with bilateral corneal opacities that are seen at or shortly after birth (see <a class="figpopup" href="/books/NBK2690/figure/csc-dys.F1/?report=objectonly" target="object" rid-figpopup="figcscdysF1" rid-ob="figobcscdysF1">Figure 1</a>), particularly if:</p><div class="iconblock whole_rhythm clearfix ten_col fig" id="figcscdysF1" co-legend-rid="figlgndcscdysF1"><a href="/books/NBK2690/figure/csc-dys.F1/?report=objectonly" target="object" title="Figure 1. " class="img_link icnblk_img figpopup" rid-figpopup="figcscdysF1" rid-ob="figobcscdysF1"><img class="small-thumb" src="/books/NBK2690/bin/csc-dys-Image001.gif" src-large="/books/NBK2690/bin/csc-dys-Image001.jpg" alt="Figure 1. " /></a><div class="icnblk_cntnt" id="figlgndcscdysF1"><h4 id="csc-dys.F1"><a href="/books/NBK2690/figure/csc-dys.F1/?report=objectonly" target="object" rid-ob="figobcscdysF1">Figure 1. </a></h4><p class="float-caption no_bottom_margin">Slit lamp photograph of the cornea showing slightly irregular surface and small flakes and spots throughout the corneal stroma </p></div></div><ul><li class="half_rhythm"><div>The surface of the cornea is normal or slightly irregular.</div></li><li class="half_rhythm"><div>Small opacities are seen throughout the stroma of the entire cornea and give the cornea a cloudy appearance.</div></li><li class="half_rhythm"><div>The thickness of the cornea (as measured by ultrasonic pachymetry) is increased. Note: This finding may help distinguish CSCD from other disorders that have normal corneal thickness.</div></li><li class="half_rhythm"><div>Intraocular pressure is normal.</div></li></ul><p><b>Transmission electron microscopy</b> of the stroma shows layers of apparently normal collagen fibrils separated by abnormal layers with small filaments embedded in an electron-lucent ground substance (<a class="figpopup" href="/books/NBK2690/figure/csc-dys.F2/?report=objectonly" target="object" rid-figpopup="figcscdysF2" rid-ob="figobcscdysF2">Figure 2</a>) [<a class="bk_pop" href="#csc-dys.REF.bredrup.2005.420">Bredrup et al 2005</a>].</p><div class="iconblock whole_rhythm clearfix ten_col fig" id="figcscdysF2" co-legend-rid="figlgndcscdysF2"><a href="/books/NBK2690/figure/csc-dys.F2/?report=objectonly" target="object" title="Figure 2. " class="img_link icnblk_img figpopup" rid-figpopup="figcscdysF2" rid-ob="figobcscdysF2"><img class="small-thumb" src="/books/NBK2690/bin/csc-dys-Image002.gif" src-large="/books/NBK2690/bin/csc-dys-Image002.jpg" alt="Figure 2. " /></a><div class="icnblk_cntnt" id="figlgndcscdysF2"><h4 id="csc-dys.F2"><a href="/books/NBK2690/figure/csc-dys.F2/?report=objectonly" target="object" rid-ob="figobcscdysF2">Figure 2. </a></h4><p class="float-caption no_bottom_margin">Transmission electron micrograph showing lamellae of normal collagen fibrils separated by abnormal layers of thin filaments in an electron lucent ground substance </p></div></div></div><div id="csc-dys.Establishing_the_Diagnosis"><h3>Establishing the Diagnosis</h3><p>The diagnosis of <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> stromal corneal dystrophy (CSCD) <b>is established</b> in an individual with the above <a href="#csc-dys.Suggestive_Findings">Suggestive Findings</a>. Identification of a <a class="def" href="/books/n/gene/glossary/def-item/heterozygous/">heterozygous</a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in <i>DCN</i> by <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> can confirm the diagnosis if clinical features and findings on transmission electron microscopy are inconclusive (see <a href="/books/NBK2690/table/csc-dys.T.molecular_genetic_testing_used/?report=objectonly" target="object" rid-ob="figobcscdysTmoleculargenetictestingused">Table 1</a>).</p><p>Molecular genetic testing approaches can include a combination of <b><a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>-targeted testing</b> (single-gene testing, <a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a>) and <b>comprehensive</b>
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<b><a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing</b> (<a class="def" href="/books/n/gene/glossary/def-item/chromosomal-microarray/">chromosomal microarray</a> analysis, <a class="def" href="/books/n/gene/glossary/def-item/exome-sequencing/">exome sequencing</a>, <a class="def" href="/books/n/gene/glossary/def-item/exome-array/">exome array</a>, <a class="def" href="/books/n/gene/glossary/def-item/genome-sequencing/">genome sequencing</a>) depending on the <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>.</p><p>Gene-targeted testing requires that the clinician determine which <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>(s) are likely involved, whereas <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing does not. The <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a> of CSCD is relatively characteristic, and individuals with the distinctive findings described in <a href="#csc-dys.Suggestive_Findings">Suggestive Findings</a> are likely to be diagnosed using gene-targeted testing (see <a href="#csc-dys.Option_1">Option 1</a>). Those with a phenotype indistinguishable from many other inherited disorders with <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> corneal opacification are more likely to be diagnosed using genomic testing (see <a href="#csc-dys.Option_2">Option 2</a>).</p><div id="csc-dys.Option_1"><h4>Option 1</h4><p>When the phenotypic and laboratory findings suggest the diagnosis of CSCD, <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> approaches can include <b>single-<a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> testing</b> or use of a <b><a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a></b>:</p><ul><li class="half_rhythm"><div class="half_rhythm"><b>Single-<a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> testing.</b> Sequence analysis of <i>DCN</i> detects small intragenic deletions/insertions and <a class="def" href="/books/n/gene/glossary/def-item/missense/">missense</a>, <a class="def" href="/books/n/gene/glossary/def-item/nonsense-variant/">nonsense</a>, and <a class="def" href="/books/n/gene/glossary/def-item/splice-site/">splice site</a> variants; typically, <a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> or whole-gene deletions/duplications are not detected.</div><div class="half_rhythm"><b>Note:</b> Congenital stromal corneal dystrophy is caused by aggregation or deposition of a truncated form of decorin [<a class="bk_pop" href="#csc-dys.REF.bredrup.2010.5578">Bredrup et al 2010</a>]. It is not clear if this is a <a class="def" href="/books/n/gene/glossary/def-item/gain-of-function/">gain-of-function</a> mechanism (see <a href="#csc-dys.Molecular_Genetics">Molecular Genetics</a>). Large intragenic <a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a> or <a class="def" href="/books/n/gene/glossary/def-item/duplication/">duplication</a> has not been reported, and testing for intragenic deletions or duplication is therefore unlikely to identify a disease-causing variant.</div></li><li class="half_rhythm"><div class="half_rhythm"><b>A <a class="def" href="/books/n/gene/glossary/def-item/multigene-panel/">multigene panel</a></b> that includes <i>DCN</i> and other genes of interest (see <a href="#csc-dys.Differential_Diagnosis">Differential Diagnosis</a>) is most likely to identify the genetic cause of the condition while limiting identification of variants of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a> and pathogenic variants in genes that do not explain the underlying <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a>. Note: (1) The genes included in the panel and the diagnostic <a class="def" href="/books/n/gene/glossary/def-item/sensitivity/">sensitivity</a> of the testing used for each <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this <i>GeneReview</i>. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused <a class="def" href="/books/n/gene/glossary/def-item/exome/">exome</a> analysis that includes genes specified by the clinician. (4) Methods used in a panel may include <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a>, <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a>, and/or other non-sequencing-based tests.</div><div class="half_rhythm">For an introduction to multigene panels click <a href="/books/n/gene/app5/#app5.Multigene_Panels">here</a>. More detailed information for clinicians ordering genetic tests can be found <a href="/books/n/gene/app5/#app5.Multigene_Panels_FAQs">here</a>.</div></li></ul></div><div id="csc-dys.Option_2"><h4>Option 2</h4><p>When the <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a> is indistinguishable from many other inherited disorders characterized by <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> corneal opacification, <b>comprehensive</b>
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<b><a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing</b> (which does not require the clinician to determine which <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>[s] are likely involved) is the best option. <b>Exome sequencing</b> is most commonly used; <b><a class="def" href="/books/n/gene/glossary/def-item/genome-sequencing/">genome sequencing</a></b> is also possible.</p><p>For an introduction to comprehensive <a class="def" href="/books/n/gene/glossary/def-item/genomic/">genomic</a> testing click <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing">here</a>. More detailed information for clinicians ordering genomic testing can be found <a href="/books/n/gene/app5/#app5.Comprehensive_Genomic_Testing_1">here</a>.</p><div id="csc-dys.T.molecular_genetic_testing_used" class="table"><h3><span class="label">Table 1. </span></h3><div class="caption"><p>Molecular Genetic Testing Used in Congenital Stromal Corneal Dystrophy</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK2690/table/csc-dys.T.molecular_genetic_testing_used/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__csc-dys.T.molecular_genetic_testing_used_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_csc-dys.T.molecular_genetic_testing_used_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Gene <sup>1</sup></th><th id="hd_h_csc-dys.T.molecular_genetic_testing_used_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Method</th><th id="hd_h_csc-dys.T.molecular_genetic_testing_used_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Proportion of Probands with a Pathogenic Variant <sup>2</sup> Detectable by Method</th></tr></thead><tbody><tr><td headers="hd_h_csc-dys.T.molecular_genetic_testing_used_1_1_1_1" rowspan="2" scope="row" colspan="1" style="text-align:left;vertical-align:middle;">
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<i>DCN</i>
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</td><td headers="hd_h_csc-dys.T.molecular_genetic_testing_used_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Sequence analysis <sup>3</sup></td><td headers="hd_h_csc-dys.T.molecular_genetic_testing_used_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">4 families <sup>4</sup></td></tr><tr><td headers="hd_h_csc-dys.T.molecular_genetic_testing_used_1_1_1_2" colspan="1" scope="row" rowspan="1" style="text-align:left;vertical-align:middle;">Gene-targeted <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a> <sup>5</sup></td><td headers="hd_h_csc-dys.T.molecular_genetic_testing_used_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Unknown <sup>6</sup></td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt>1. </dt><dd><div id="csc-dys.TF.1.1"><p class="no_margin">See <a href="/books/NBK2690/#csc-dys.molgen.TA">Table A. Genes and Databases</a> for <a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> <a class="def" href="/books/n/gene/glossary/def-item/locus/">locus</a> and protein.</p></div></dd><dt>2. </dt><dd><div id="csc-dys.TF.1.2"><p class="no_margin">See <a href="#csc-dys.Molecular_Genetics">Molecular Genetics</a> for information on allelic variants detected in this <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>.</p></div></dd><dt>3. </dt><dd><div id="csc-dys.TF.1.3"><p class="no_margin">Sequence analysis detects variants that are benign, <a class="def" href="/books/n/gene/glossary/def-item/likely-benign/">likely benign</a>, of <a class="def" href="/books/n/gene/glossary/def-item/uncertain-significance/">uncertain significance</a>, <a class="def" href="/books/n/gene/glossary/def-item/likely-pathogenic/">likely pathogenic</a>, or pathogenic. Variants may include small intragenic deletions/insertions and <a class="def" href="/books/n/gene/glossary/def-item/missense/">missense</a>, <a class="def" href="/books/n/gene/glossary/def-item/nonsense-variant/">nonsense</a>, and <a class="def" href="/books/n/gene/glossary/def-item/splice-site/">splice site</a> variants; typically, <a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> or whole-<a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> deletions/duplications are not detected. For issues to consider in interpretation of <a class="def" href="/books/n/gene/glossary/def-item/sequence-analysis/">sequence analysis</a> results, click <a href="/books/n/gene/app2/">here</a>.</p></div></dd><dt>4. </dt><dd><div id="csc-dys.TF.1.4"><p class="no_margin"><a class="bk_pop" href="#csc-dys.REF.bredrup.2005.420">Bredrup et al [2005]</a>, <a class="bk_pop" href="#csc-dys.REF.r_dahl.2006.520">Rødahl et al [2006]</a>, <a class="bk_pop" href="#csc-dys.REF.kim.2011.1473">Kim et al [2011]</a>, <a class="bk_pop" href="#csc-dys.REF.jing.2014.288">Jing et al [2014]</a>. In addition, <a class="bk_pop" href="#csc-dys.REF.lee.2012.301">Lee et al [2012]</a> have reported a family with late onset of features resembling <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> stromal corneal dystrophy.</p></div></dd><dt>5. </dt><dd><div id="csc-dys.TF.1.5"><p class="no_margin">Gene-targeted <a class="def" href="/books/n/gene/glossary/def-item/deletion-duplication-analysis/">deletion/duplication analysis</a> detects intragenic deletions or duplications. Methods used may include a range of techniques such as <a class="def" href="/books/n/gene/glossary/def-item/quantitative-pcr/">quantitative PCR</a>, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a>-targeted microarray designed to detect single-<a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> deletions or duplications.</p></div></dd><dt>6. </dt><dd><div id="csc-dys.TF.1.6"><p class="no_margin">Congenital stromal corneal dystrophy is caused by aggregation or deposition of a truncated form of decorin. It is not clear if this is a <a class="def" href="/books/n/gene/glossary/def-item/gain-of-function/">gain-of-function</a> mechanism (see <a href="#csc-dys.Molecular_Genetics">Molecular Genetics</a>). Large intragenic <a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a> or <a class="def" href="/books/n/gene/glossary/def-item/duplication/">duplication</a> has not been reported, and testing for intragenic deletions or duplication is therefore unlikely to identify a disease-causing variant.</p></div></dd></dl></div></div></div></div></div></div><div id="csc-dys.Clinical_Characteristics"><h2 id="_csc-dys_Clinical_Characteristics_">Clinical Characteristics</h2><div id="csc-dys.Clinical_Description"><h3>Clinical Description</h3><p>Only seven families with the characteristic findings of <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> stromal corneal dystrophy (CSCD) have been reported in the literature [<a class="bk_pop" href="#csc-dys.REF.turpin.1939.109">Turpin et al 1939</a>, <a class="bk_pop" href="#csc-dys.REF.odland.1968.477">Odland 1968</a>, <a class="bk_pop" href="#csc-dys.REF.witschel.1978.1043">Witschel et al 1978</a>, <a class="bk_pop" href="#csc-dys.REF.van_ginderdeuren.2002.118">Van Ginderdeuren et al 2002</a>, <a class="bk_pop" href="#csc-dys.REF.kim.2011.1473">Kim et al 2011</a>, <a class="bk_pop" href="#csc-dys.REF.jing.2014.288">Jing et al 2014</a>, <a class="bk_pop" href="#csc-dys.REF.acar.2016.2016">Acar et al 2016</a>]. Some interfamilial variation has been noted among the affected individuals. In addition, <a class="bk_pop" href="#csc-dys.REF.lee.2012.301">Lee et al [2012]</a> have reported a family with late onset of features resembling CSCD.</p><p>In a Norwegian family with 11 affected individuals, bilateral corneal opacities were observed at or slightly after birth [<a class="bk_pop" href="#csc-dys.REF.bredrup.2005.420">Bredrup et al 2005</a>]. Slit lamp examination revealed small flakes and spots distributed in all layers of the stroma from limbus to limbus. The surface of the cornea was slightly irregular. Most affected individuals had best corrected visual acuity within the range of 0.3-0.63. Four out of 11 had strabismus. None had nystagmus. The corneal diameter was normal. Pachymetry revealed increased thickness of the cornea (mean: 673 μm; range: 658-704 μm).</p><p>Affected individuals reported deterioration in visual acuity with increasing age; opacities tended to increase with age. Penetrating keratoplasty was performed in 18 out of 22 eyes at a mean age of 20 years. The grafts remained clear in 56% of the eyes, and in an additional 33% only minimal opacities were seen within an observation period of three to 36 (mean: 19.5) years.</p><p>Some affected individuals in other studies reported photophobia [<a class="bk_pop" href="#csc-dys.REF.van_ginderdeuren.2002.118">Van Ginderdeuren et al 2002</a>] and nystagmus [<a class="bk_pop" href="#csc-dys.REF.witschel.1978.1043">Witschel et al 1978</a>, <a class="bk_pop" href="#csc-dys.REF.jing.2014.288">Jing et al 2014</a>], the latter most likely because of reduced visual acuity. Normal corneal thickness has also been described [<a class="bk_pop" href="#csc-dys.REF.witschel.1978.1043">Witschel et al 1978</a>, <a class="bk_pop" href="#csc-dys.REF.pouliquen.1979.115">Pouliquen et al 1979</a>, <a class="bk_pop" href="#csc-dys.REF.jing.2014.288">Jing et al 2014</a>] though not confirmed by pachymetry.</p><p>No findings in other organ systems have been noted.</p></div><div id="csc-dys.GenotypePhenotype_Correlations"><h3>Genotype-Phenotype Correlations</h3><p>Because of limited data, no <a class="def" href="/books/n/gene/glossary/def-item/genotype-phenotype-correlations/">genotype-phenotype correlations</a> are evident. In one family reported by <a class="bk_pop" href="#csc-dys.REF.lee.2012.301">Lee et al [2012]</a>, <i>DCN</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> <a href="/books/NBK2690/table/csc-dys.T.dcn_pathogenic_variants_discus/?report=objectonly" target="object" rid-ob="figobcscdysTdcnpathogenicvariantsdiscus">c.1036T>G</a> was associated with a relatively mild form of late-onset disease resembling CSCD.</p></div><div id="csc-dys.Penetrance"><h3>Penetrance</h3><p>Penetrance is complete in the described families.</p></div><div id="csc-dys.Nomenclature"><h3>Nomenclature</h3><p>Other names by which <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> stromal corneal dystrophy has been known:</p><ul><li class="half_rhythm"><div>Dystrophia corneae parenchymatosa congenita</div></li><li class="half_rhythm"><div>Congenital stromal dystrophy of the cornea</div></li><li class="half_rhythm"><div>Congenital hereditary stromal dystrophy of the cornea</div></li><li class="half_rhythm"><div>Decorin-associated <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> stromal corneal dystrophy</div></li></ul></div><div id="csc-dys.Prevalence"><h3>Prevalence</h3><p>CSCD is probably very rare. Seven families with a similar <a class="def" href="/books/n/gene/glossary/def-item/phenotype/">phenotype</a> have been described. In four of these, molecular analyses have revealed <i>DCN</i> pathogenic variants (<a href="/books/NBK2690/table/csc-dys.T.dcn_pathogenic_variants_discus/?report=objectonly" target="object" rid-ob="figobcscdysTdcnpathogenicvariantsdiscus">Table 3</a>) [<a class="bk_pop" href="#csc-dys.REF.bredrup.2005.420">Bredrup et al 2005</a>, <a class="bk_pop" href="#csc-dys.REF.r_dahl.2006.520">Rødahl et al 2006</a>, <a class="bk_pop" href="#csc-dys.REF.kim.2011.1473">Kim et al 2011</a>, <a class="bk_pop" href="#csc-dys.REF.jing.2014.288">Jing et al 2014</a>].</p></div></div><div id="csc-dys.Genetically_Related_Allelic_Diso"><h2 id="_csc-dys_Genetically_Related_Allelic_Diso_">Genetically Related (Allelic) Disorders</h2><p>No other phenotypes are known to be associated with pathogenic variants in <i>DCN</i>.</p></div><div id="csc-dys.Differential_Diagnosis"><h2 id="_csc-dys_Differential_Diagnosis_">Differential Diagnosis</h2><p>Bilateral <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> opacifications of the cornea can be caused by several disorders/conditions (see <a href="/books/NBK2690/table/csc-dys.T.disorders_with_bilateral_conge/?report=objectonly" target="object" rid-ob="figobcscdysTdisorderswithbilateralconge">Table 2</a>):</p><ul><li class="half_rhythm"><div>Various corneal dystrophies [<a class="bk_pop" href="#csc-dys.REF.weiss.2015">Weiss et al 2015</a>], primarily <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> hereditary endothelial dystrophy (OMIM <a href="https://www.omim.org/entry/217700" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">217700</a>)</div></li><li class="half_rhythm"><div>Congenital glaucoma</div></li><li class="half_rhythm"><div>Systemic storage disease</div></li><li class="half_rhythm"><div>Malformations of the anterior segment</div></li><li class="half_rhythm"><div>Inflammation</div></li></ul><div id="csc-dys.T.disorders_with_bilateral_conge" class="table"><h3><span class="label">Table 2. </span></h3><div class="caption"><p>Disorders with Bilateral Congenital Opacifications of the Cornea to Consider in the Differential Diagnosis of Congenital Stromal Corneal Dystrophy (CSCD)</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK2690/table/csc-dys.T.disorders_with_bilateral_conge/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__csc-dys.T.disorders_with_bilateral_conge_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_1" rowspan="2" scope="col" colspan="1" headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_1" style="text-align:left;vertical-align:middle;">Disorder/<br />Condition</th><th id="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_2" rowspan="2" scope="col" colspan="1" headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_2" style="text-align:left;vertical-align:middle;">Gene(s) / Chromosome Locus</th><th id="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_3" rowspan="2" scope="col" colspan="1" headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_3" style="text-align:left;vertical-align:middle;">MOI</th><th id="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_4" colspan="2" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Additional Clinical Features of This Disorder</th></tr><tr><th headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_4" id="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_2_1" colspan="1" scope="colgroup" rowspan="1" style="text-align:left;vertical-align:middle;">Overlapping w/CSCD</th><th headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_4" id="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_2_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Distinguishing from CSCD</th></tr></thead><tbody><tr><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Congenital hereditary endothelial dystrophy</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>SLC4A11</i>
|
||
</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_4 hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Corneal clouding</div></li><li class="half_rhythm"><div>Nystagmus</div></li></ul>
|
||
</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_4 hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Thick cornea</div></li><li class="half_rhythm"><div>Corneal edema</div></li><li class="half_rhythm"><div>Diffuse opacity</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Posterior polymorphous corneal dystrophy</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>OVOL2</i>
|
||
<br />
|
||
<i>COL8A2</i>
|
||
<br />
|
||
<i>ZEB1</i>
|
||
<br />
|
||
<i>GRHL2</i>
|
||
</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_4 hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Corneal clouding w/corneal opacities</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_4 hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Changes at Descemets membrane & endothelium w/vesicular lesions</div></li><li class="half_rhythm"><div>Peripheral anterior synechiae</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Posterior amorphous corneal dystrophy</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">12q21.33</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AD</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_4 hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Corneal opacities</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_4 hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Hyperopia</div></li><li class="half_rhythm"><div>Flattening of cornea</div></li><li class="half_rhythm"><div>Thin cornea</div></li><li class="half_rhythm"><div>Sheet-like opacifications</div></li><li class="half_rhythm"><div>Involvement of Descemets membrane & endothelium</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Congenital glaucoma</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CYP1B1</i>
|
||
<br />
|
||
<i>LTBP2</i>
|
||
<br />
|
||
<i>TEK</i>
|
||
</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR <sup>1</sup></td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_4 hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Corneal clouding</div></li><li class="half_rhythm"><div>Photophobia</div></li></ul>
|
||
</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_4 hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Tearing & blepharospasm</div></li><li class="half_rhythm"><div>↑ intraocular pressure</div></li><li class="half_rhythm"><div>↑ corneal diameter</div></li><li class="half_rhythm"><div>Breaks in Descemets membrane</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Mucopolysaccharidosis (I, IV, VI)</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>IDUA</i>
|
||
<br />
|
||
<i>GALNS</i>
|
||
<br />
|
||
<i>ARSB</i>
|
||
</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_4 hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Corneal clouding</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_4 hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Systemic involvement</td></tr><tr><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Anterior segment dysgenesis (Peters anomaly)</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<i>CYP1B1</i>
|
||
<br />
|
||
<i>FOXC1</i>
|
||
<br />
|
||
<i>PAX6</i>
|
||
<br />
|
||
<i>FOXE3</i>
|
||
<br />
|
||
<a href="/books/n/gene/norrie/">
|
||
<i>NDP</i>
|
||
</a>
|
||
<br />
|
||
<i>SLC4A11</i>
|
||
<br />
|
||
<i>HCCS</i>
|
||
<br />
|
||
<i>PITX2</i>
|
||
<br />
|
||
<i>PITX3</i>
|
||
</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">AR<br />AD</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_4 hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Corneal clouding</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_4 hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;"><ul><li class="half_rhythm"><div>Large, central opacities</div></li><li class="half_rhythm"><div>Iridocorneal adhesions</div></li><li class="half_rhythm"><div>Iris anomalies</div></li></ul>
|
||
</td></tr><tr><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Inflammation</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_3" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">NA</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_4 hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_2_1" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Corneal clouding</td><td headers="hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_1_4 hd_h_csc-dys.T.disorders_with_bilateral_conge_1_1_2_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Rarely present at birth</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">AD = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a>; AR = <a class="def" href="/books/n/gene/glossary/def-item/autosomal-recessive/">autosomal recessive</a>; MOI = <a class="def" href="/books/n/gene/glossary/def-item/mode-of-inheritance/">mode of inheritance</a></p></div></dd><dt>1. </dt><dd><div id="csc-dys.TF.2.1"><p class="no_margin">Autosomal recessive inheritance only accounts for a proportion of <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> glaucoma cases.</p></div></dd></dl></div></div></div></div><div id="csc-dys.Management"><h2 id="_csc-dys_Management_">Management</h2><div id="csc-dys.Evaluations_Following_Initial_Di"><h3>Evaluations Following Initial Diagnosis</h3><p>To establish the extent of disease and needs in an individual diagnosed with <a class="def" href="/books/n/gene/glossary/def-item/congenital/">congenital</a> stromal corneal dystrophy (CSCD), the evaluations summarized in this section (if not performed as part of the evaluation that led to the diagnosis) are recommended:</p><ul><li class="half_rhythm"><div>Ophthalmologic evaluation that includes the following:</div><ul><li class="half_rhythm"><div>Assessment of visual acuity</div></li><li class="half_rhythm"><div>Assessment of refractive error</div></li><li class="half_rhythm"><div>Assessment of motility and strabismus (orthoptic evaluation)</div></li><li class="half_rhythm"><div>Slit lamp examination</div></li><li class="half_rhythm"><div>Measurement of corneal thickness using pachymetry</div></li><li class="half_rhythm"><div>Measurement of intraocular pressure</div></li></ul></li><li class="half_rhythm"><div>Consultation with a clinical geneticist and/or genetic counselor</div></li></ul></div><div id="csc-dys.Treatment_of_Manifestations"><h3>Treatment of Manifestations</h3><p>The following are appropriate:</p><ul><li class="half_rhythm"><div>Spectacles or contact lenses for correction of refractive errors</div></li><li class="half_rhythm"><div>Patching and/or surgical correction of strabismus</div></li><li class="half_rhythm"><div>Keratoplasty. To reduce the risk of amblyopia, penetrating keratoplasty should be considered in children younger than age seven years. Most grafts remain clear after penetrating keratoplasty even in this age group. There is a single report of a successful deep anterior lamellar keratoplasty in a child age four years [<a class="bk_pop" href="#csc-dys.REF.acar.2016.2016">Acar et al 2016</a>].</div></li></ul></div><div id="csc-dys.Surveillance"><h3>Surveillance</h3><p>Visual acuity and routine ophthalmologic examination should be performed at least every year in children. Regular surveillance in adults is not necessary unless they have undergone keratoplasty. Affected individuals should be informed about penetrating keratoplasty and advised to contact their eye doctor in case of reduced visual acuity or increased glare.</p></div><div id="csc-dys.AgentsCircumstances_to_Avoid"><h3>Agents/Circumstances to Avoid</h3><p>Individuals who have undergone keratoplasty should avoid activities that could cause direct trauma to the eye. No other agents or circumstances need to be avoided.</p></div><div id="csc-dys.Evaluation_of_Relatives_at_Risk"><h3>Evaluation of Relatives at Risk</h3><p>In families with known CSCD, at-risk children should be seen by an ophthalmologist within a few months after birth to determine if they have the condition. Alternatively, if the <i>DCN</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in the family has been identified, <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> of at-risk children can be pursued.</p><p>It is appropriate to clarify the status of at-risk relatives of an affected individual within a few months after birth in order to identify as early as possible those who would benefit from prompt ophthalmologic examination. Evaluations can include:</p><ul><li class="half_rhythm"><div>Molecular genetic testing if the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in the family is known;</div></li><li class="half_rhythm"><div>Ophthalmologic evaluation if the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> in the family is not known.</div></li></ul><p>See <a href="#csc-dys.Related_Genetic_Counseling_Issue">Genetic Counseling</a> for issues related to testing of at-risk relatives for <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> purposes.</p></div><div id="csc-dys.Therapies_Under_Investigation"><h3>Therapies Under Investigation</h3><p>Search <a href="https://clinicaltrials.gov/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">ClinicalTrials.gov</a> in the US and <a href="https://www.clinicaltrialsregister.eu/ctr-search/search" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">EU Clinical Trials Register</a> in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.</p></div></div><div id="csc-dys.Genetic_Counseling"><h2 id="_csc-dys_Genetic_Counseling_">Genetic Counseling</h2><p>
|
||
<i>Genetic counseling is the process of providing individuals and families with
|
||
information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them
|
||
make informed medical and personal decisions. The following section deals with genetic
|
||
risk assessment and the use of family history and genetic testing to clarify genetic
|
||
status for family members; it is not meant to address all personal, cultural, or
|
||
ethical issues that may arise or to substitute for consultation with a genetics
|
||
professional</i>. —ED.</p><div id="csc-dys.Mode_of_Inheritance"><h3>Mode of Inheritance</h3><p>Congenital stromal corneal dystrophy (CSCD) is inherited in an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> manner.</p></div><div id="csc-dys.Risk_to_Family_Members"><h3>Risk to Family Members</h3><p>
|
||
<b>Parents of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a></b>
|
||
</p><ul><li class="half_rhythm"><div>Most individuals diagnosed with CSCD have an affected parent.</div></li><li class="half_rhythm"><div>A <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with CSCD may have the disorder as the result of a new <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>. The proportion of cases caused by <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> pathogenic variants is unknown.</div></li><li class="half_rhythm"><div>Recommendations for the evaluation of parents of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with an apparent <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> include a complete eye examination with particular emphasis on visual acuity and slit lamp examination of the cornea and, if a <i>DCN</i> pathogenic variant has been identified in the proband, <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> of the parents.</div></li><li class="half_rhythm"><div>If a <i>DCN</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> found in the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> cannot be detected in the leukocyte DNA of either parent, possible explanations include a <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> pathogenic variant in the proband or <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a> in a parent. Though theoretically possible, no instances of germline mosaicism have been reported.</div></li><li class="half_rhythm"><div>The family history of some individuals diagnosed with CSCD may appear to be negative because of failure to recognize the disorder in family members. Therefore, an apparently negative family history cannot be confirmed unless appropriate clinical evaluation and/or <a class="def" href="/books/n/gene/glossary/def-item/molecular-genetic-testing/">molecular genetic testing</a> has been performed on the parents of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</div></li></ul><p><b>Sibs of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> The risk to the sibs of the proband depends on the clinical/genetic status of the proband's parents:</p><ul><li class="half_rhythm"><div>If a parent of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> is affected and/or is known to have the <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> identified in the proband, the risk to the sibs is 50%.</div></li><li class="half_rhythm"><div>If the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> has a known <i>DCN</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> that cannot be detected in the leukocyte DNA of either parent, the <a class="def" href="/books/n/gene/glossary/def-item/recurrence-risk/">recurrence risk</a> to sibs is estimated to be 1% because of the theoretic possibility of parental <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a> [<a class="bk_pop" href="#csc-dys.REF.rahbari.2016.126">Rahbari et al 2016</a>].</div></li><li class="half_rhythm"><div>If the parents have not been tested for the <i>DCN</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> but are clinically unaffected, the risk to the sibs of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> appears to be low. However, sibs of a proband with clinically unaffected parents are still presumed to be at increased risk for CSCD because of the theoretic possibility of parental <a class="def" href="/books/n/gene/glossary/def-item/germline-mosaicism/">germline mosaicism</a>.</div></li></ul><p><b>Offspring of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>.</b> Each child of an individual with CSCD has a 50% chance of inheriting the <i>DCN</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</p><p><b>Other family members.</b> The risk to other family members depends on the status of the <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a>'s parents: if a parent is affected, his or her family members may be at risk.</p></div><div id="csc-dys.Related_Genetic_Counseling_Issue"><h3>Related Genetic Counseling Issues</h3><p>See Management, <a href="#csc-dys.Evaluation_of_Relatives_at_Risk">Evaluation of Relatives at Risk</a> for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.</p><p><b>Considerations in families with an apparent <a class="def" href="/books/n/gene/glossary/def-item/de-novo/"><i>de novo</i></a> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a>.</b> When neither parent of a <a class="def" href="/books/n/gene/glossary/def-item/proband/">proband</a> with an <a class="def" href="/books/n/gene/glossary/def-item/autosomal-dominant/">autosomal dominant</a> condition has the pathogenic variant identified in the proband or clinical evidence of the disorder, the pathogenic variant is likely <i>de novo</i>. However, non-medical explanations including <a class="def" href="/books/n/gene/glossary/def-item/alternate-paternity/">alternate paternity</a> or maternity (e.g., with assisted reproduction) and undisclosed adoption could also be explored.</p><p>
|
||
<b>Family planning</b>
|
||
</p><ul><li class="half_rhythm"><div>The optimal time for determination of genetic risk and discussion of the availability of prenatal/<a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> is before pregnancy.</div></li><li class="half_rhythm"><div>It is appropriate to offer <a class="def" href="/books/n/gene/glossary/def-item/genetic-counseling/">genetic counseling</a> (including discussion of potential risks to offspring and reproductive options) to young adults who are affected or at risk.</div></li></ul><p><b>DNA banking.</b> Because it is likely that testing methodology and our understanding of genes, pathogenic mechanisms, and diseases will improve in the future, consideration should be given to banking DNA from probands in whom a molecular diagnosis has not been confirmed (i.e., the causative pathogenic mechanism is unknown).</p></div><div id="csc-dys.Prenatal_Testing_and_Preimplanta"><h3>Prenatal Testing and Preimplantation Genetic Testing</h3><p>Once the <i>DCN</i> <a class="def" href="/books/n/gene/glossary/def-item/pathogenic-variant/">pathogenic variant</a> has been identified in an affected family member, <a class="def" href="/books/n/gene/glossary/def-item/prenatal-testing/">prenatal testing</a> for a pregnancy at increased risk and <a class="def" href="/books/n/gene/glossary/def-item/preimplantation-genetic-testing/">preimplantation genetic testing</a> are possible.</p><p>Differences in perspective may exist among medical professionals and within families regarding the use of <a class="def" href="/books/n/gene/glossary/def-item/prenatal-testing/">prenatal testing</a>. While most centers would consider use of prenatal testing to be the choice of the parents, discussion of these issues may be helpful.</p></div></div><div id="csc-dys.Resources"><h2 id="_csc-dys_Resources_">Resources</h2><p>
|
||
<i>GeneReviews staff has selected the following disease-specific and/or umbrella
|
||
support organizations and/or registries for the benefit of individuals with this disorder
|
||
and their families. GeneReviews is not responsible for the information provided by other
|
||
organizations. For information on selection criteria, click <a href="/books/n/gene/app4/">here</a>.</i></p>
|
||
<ul><li class="half_rhythm"><div>
|
||
<b>National Eye Institute</b>
|
||
</div><div>31 Center Drive</div><div>MSC 2510</div><div>Bethesda MD 20892-2510</div><div><b>Phone:</b> 301-496-5248</div><div><b>Email:</b> 2020@nei.nih.gov</div><div>
|
||
<a href="https://nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/corneal-conditions" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Facts About the Cornea and Corneal Disease</a>
|
||
</div></li><li class="half_rhythm"><div>
|
||
<b>National Eye Institute</b>
|
||
</div><div><b>Phone:</b> 301-496-5248</div><div><b>Email:</b> 2020@nei.nih.gov</div><div>
|
||
<a href="https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/low-vision" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Low Vision</a>
|
||
</div></li></ul>
|
||
</div><div id="csc-dys.Molecular_Genetics"><h2 id="_csc-dys_Molecular_Genetics_">Molecular Genetics</h2><p><i>Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —</i>ED.</p><div id="csc-dys.molgen.TA" class="table"><h3><span class="label">Table A.</span></h3><div class="caption"><p>Congenital Stromal Corneal Dystrophy: Genes and Databases</p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK2690/table/csc-dys.molgen.TA/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__csc-dys.molgen.TA_lrgtbl__"><table class="no_bottom_margin"><tbody><tr><th id="hd_b_csc-dys.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">Gene</th><th id="hd_b_csc-dys.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">Chromosome Locus</th><th id="hd_b_csc-dys.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">Protein</th><th id="hd_b_csc-dys.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">Locus-Specific Databases</th><th id="hd_b_csc-dys.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">HGMD</th><th id="hd_b_csc-dys.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">ClinVar</th></tr><tr><td headers="hd_b_csc-dys.molgen.TA_1_1_1_1" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="/gene/1634" ref="pagearea=body&targetsite=entrez&targetcat=link&targettype=gene">
|
||
<i>DCN</i>
|
||
</a>
|
||
</td><td headers="hd_b_csc-dys.molgen.TA_1_1_1_2" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/genome/gdv/?context=gene&acc=1634" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">12q21<wbr style="display:inline-block"></wbr>.33</a>
|
||
</td><td headers="hd_b_csc-dys.molgen.TA_1_1_1_3" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.uniprot.org/uniprot/P07585" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">Decorin</a>
|
||
</td><td headers="hd_b_csc-dys.molgen.TA_1_1_1_4" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://databases.lovd.nl/shared/genes/DCN" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">DCN database</a>
|
||
</td><td headers="hd_b_csc-dys.molgen.TA_1_1_1_5" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=DCN" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">DCN</a>
|
||
</td><td headers="hd_b_csc-dys.molgen.TA_1_1_1_6" rowspan="1" colspan="1" style="vertical-align:top;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/clinvar/?term=DCN[gene]" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">DCN</a>
|
||
</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div id="csc-dys.TFA.1"><p class="no_margin">Data are compiled from the following standard references: <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> from
|
||
<a href="http://www.genenames.org/index.html" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">HGNC</a>;
|
||
<a class="def" href="/books/n/gene/glossary/def-item/chromosome/">chromosome</a> <a class="def" href="/books/n/gene/glossary/def-item/locus/">locus</a> from
|
||
<a href="http://www.omim.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">OMIM</a>;
|
||
protein from <a href="http://www.uniprot.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">UniProt</a>.
|
||
For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click
|
||
<a href="/books/n/gene/app1/">here</a>.</p></div></dd></dl></div></div></div><div id="csc-dys.molgen.TB" class="table"><h3><span class="label">Table B.</span></h3><div class="caption"><p>OMIM Entries for Congenital Stromal Corneal Dystrophy (<a href="/omim/125255,610048" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">View All in OMIM</a>) </p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK2690/table/csc-dys.molgen.TB/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__csc-dys.molgen.TB_lrgtbl__"><table><tbody><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/125255" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">125255</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">DECORIN; DCN</td></tr><tr><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">
|
||
<a href="/omim/610048" ref="pagearea=body&targetsite=entrez&targetcat=term&targettype=omim">610048</a></td><td rowspan="1" colspan="1" style="text-align:left;vertical-align:top;">CORNEAL DYSTROPHY, CONGENITAL STROMAL; CSCD</td></tr></tbody></table></div></div><div id="csc-dys.Molecular_Pathogenesis"><h3>Molecular Pathogenesis</h3><p>Corneal transparency requires that collagen fibrils be properly organized with a uniform diameter and a regular interfibrillar space. Congenital stromal corneal dystrophy (CSCD) is characterized by stromal opacities throughout the cornea. By transmission electron microscopy these opacities are seen as layers of amorphous material with thin filaments. The reported <i>DCN</i> pathogenic variants all lead to formation of a truncated decorin that has a tendency to aggregate in vitro. Decorin is found to accumulate in the amorphous areas. The authors hypothesize that truncated decorin accumulates in CSCD, thus causing the opacities [<a class="bk_pop" href="#csc-dys.REF.bredrup.2010.5578">Bredrup et al 2010</a>]. Studies in mice have shown that extracellular export of truncated decorin is necessary for the development of corneal opacities [<a class="bk_pop" href="#csc-dys.REF.mellgren.2015.2909">Mellgren et al 2015</a>].</p><p><b>Gene structure.</b>
|
||
<i>DCN</i> spans 3,777 kb. The full-length <a class="def" href="/books/n/gene/glossary/def-item/gene/">gene</a> consists of eight exons with the AUG start codon in <a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a> 2. For a detailed summary of gene and protein information, see <a href="/books/NBK2690/#csc-dys.molgen.TA">Table A</a>, <b>Gene</b>.</p><p><b>Benign variants.</b> An imperfect dinucleotide repeat variation is in <a class="def" href="/books/n/gene/glossary/def-item/intron/">intron</a> 1. In a small cohort of individuals with type 1 diabetes, one of these variants was associated with slower progression of renal disease [<a class="bk_pop" href="#csc-dys.REF.de_cosmo.2002.72">De Cosmo et al 2002</a>] (see <a href="/books/NBK2690/#csc-dys.molgen.TA">Table A</a>, <b>HGMD</b>).</p><p><b>Pathogenic variants.</b> Four variants associated with CSCD have been detected in <i>DCN</i> (<a href="/books/NBK2690/table/csc-dys.T.dcn_pathogenic_variants_discus/?report=objectonly" target="object" rid-ob="figobcscdysTdcnpathogenicvariantsdiscus">Table 3</a>) [<a class="bk_pop" href="#csc-dys.REF.bredrup.2005.420">Bredrup et al 2005</a>, <a class="bk_pop" href="#csc-dys.REF.r_dahl.2006.520">Rødahl et al 2006</a>, <a class="bk_pop" href="#csc-dys.REF.kim.2011.1473">Kim et al 2011</a>, <a class="bk_pop" href="#csc-dys.REF.jing.2014.288">Jing et al 2014</a>]. They are all frameshift variants located in the last coding <a class="def" href="/books/n/gene/glossary/def-item/exon/">exon</a>. The resulting proteins are predicted to have a few altered terminal amino acid residues and a <a class="def" href="/books/n/gene/glossary/def-item/deletion/">deletion</a> of the 33 C-terminal amino acids.</p><p><a class="bk_pop" href="#csc-dys.REF.lee.2012.301">Lee et al [2012]</a> have reported a c.1036T>G (p.Cys346Gly) variant in a family where affected individuals developed corneal opacities in adult life. The functional consequences of this variant at the protein level have not yet been studied. The authors suggest that this could represent a mild form of CSCD.</p><div id="csc-dys.T.dcn_pathogenic_variants_discus" class="table"><h3><span class="label">Table 3. </span></h3><div class="caption"><p><i>DCN</i> Pathogenic Variants Discussed in This <i>GeneReview</i></p></div><p class="large-table-link" style="display:none"><span class="right"><a href="/books/NBK2690/table/csc-dys.T.dcn_pathogenic_variants_discus/?report=objectonly" target="object">View in own window</a></span></p><div class="large_tbl" id="__csc-dys.T.dcn_pathogenic_variants_discus_lrgtbl__"><table class="no_bottom_margin"><thead><tr><th id="hd_h_csc-dys.T.dcn_pathogenic_variants_discus_1_1_1_1" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">DNA Nucleotide Change</th><th id="hd_h_csc-dys.T.dcn_pathogenic_variants_discus_1_1_1_2" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Predicted Protein Change</th><th id="hd_h_csc-dys.T.dcn_pathogenic_variants_discus_1_1_1_3" scope="col" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">Reference Sequences</th></tr></thead><tbody><tr><td headers="hd_h_csc-dys.T.dcn_pathogenic_variants_discus_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.1036T>G</td><td headers="hd_h_csc-dys.T.dcn_pathogenic_variants_discus_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Cys346Gly</td><td headers="hd_h_csc-dys.T.dcn_pathogenic_variants_discus_1_1_1_3" rowspan="5" colspan="1" style="text-align:left;vertical-align:middle;">
|
||
<a href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=nuccore&id=47419925" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NM_001920<wbr style="display:inline-block"></wbr>.3</a>
|
||
<br />
|
||
<a href="https://www.ncbi.nlm.nih.gov/entrez/viewer.fcgi?db=protein&id=4503271" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">NP_001911<wbr style="display:inline-block"></wbr>.1</a>
|
||
</td></tr><tr><td headers="hd_h_csc-dys.T.dcn_pathogenic_variants_discus_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.967delT</td><td headers="hd_h_csc-dys.T.dcn_pathogenic_variants_discus_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Ser323LeufsTer5</td></tr><tr><td headers="hd_h_csc-dys.T.dcn_pathogenic_variants_discus_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.941delC</td><td headers="hd_h_csc-dys.T.dcn_pathogenic_variants_discus_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Pro314HisfsTer14</td></tr><tr><td headers="hd_h_csc-dys.T.dcn_pathogenic_variants_discus_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.947delG</td><td headers="hd_h_csc-dys.T.dcn_pathogenic_variants_discus_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Gly316AspfsTer12</td></tr><tr><td headers="hd_h_csc-dys.T.dcn_pathogenic_variants_discus_1_1_1_1" scope="row" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">c.962delA</td><td headers="hd_h_csc-dys.T.dcn_pathogenic_variants_discus_1_1_1_2" rowspan="1" colspan="1" style="text-align:left;vertical-align:middle;">p.Lys321ArgfsTer7</td></tr></tbody></table></div><div><div><dl class="temp-labeled-list small"><dt></dt><dd><div><p class="no_margin">Variants listed in the table have been provided by the authors. <i>GeneReviews</i> staff have not independently verified the classification of variants.</p></div></dd><dt></dt><dd><div><p class="no_margin"><i>GeneReviews</i> follows the standard naming conventions of the Human Genome Variation Society (<a href="https://varnomen.hgvs.org/" ref="pagearea=body&targetsite=external&targetcat=link&targettype=uri">varnomen<wbr style="display:inline-block"></wbr>.hgvs.org</a>). See <a href="/books/n/gene/app3/">Quick Reference</a> for an explanation of nomenclature.</p></div></dd></dl></div></div></div><p><b>Normal <a class="def" href="/books/n/gene/glossary/def-item/gene-product/">gene product</a>.</b> Decorin is a member of the class I family of small leucine-rich repeat proteoglycans; other members of this class include biglycan and asporin. A 14-amino-acid propeptide is cleaved from the N-terminal part to make the mature core protein of 329 amino acids. The mature core protein is substituted with one chondroitin/dermatan sulphate glycosaminoglycan chain at p.Ser4 and two or three N-linked oligosaccharides at residues p.Asn181, p.Asn232, and p.Asn273.</p><p>Decorin is expressed in a wide range of connective tissues and can bind to several biologically important molecules including collagen I, collagen VI, fibronectin, thrombospondin, epidermal growth factor receptor, insulin-like growth factor 1 receptor, and transforming growth factor beta. It has been implicated in a number of biologic processes, primarily in the regulation of collagen fibril morphology, where there is evidence suggesting that decorin is the main inhibitor of lateral growth of collagen fibrils [<a class="bk_pop" href="#csc-dys.REF.zhang.2009.8888">Zhang et al 2009</a>]. In addition, decorin may play an important role as a regulatory protein in processes that include cell adhesion, cell proliferation, angiogenesis, cell matrix formation, autophagy, and carbohydrate metabolism [<a class="bk_pop" href="#csc-dys.REF.schaefer.2008.21305">Schaefer & Iozzo 2008</a>, <a class="bk_pop" href="#csc-dys.REF.gubbiotti.2018.16940">Gubbiotti et al 2018</a>].</p><p><b>Abnormal <a class="def" href="/books/n/gene/glossary/def-item/gene-product/">gene product</a>.</b> Pathogenic frameshift variants so far detected in <i>DCN</i> are predicted to result in alteration of a few amino acids and premature protein truncation (i.e., of the 33 carboxy-terminal amino acids) [<a class="bk_pop" href="#csc-dys.REF.bredrup.2005.420">Bredrup et al 2005</a>, <a class="bk_pop" href="#csc-dys.REF.r_dahl.2006.520">Rødahl et al 2006</a>, <a class="bk_pop" href="#csc-dys.REF.kim.2011.1473">Kim et al 2011</a>, <a class="bk_pop" href="#csc-dys.REF.jing.2014.288">Jing et al 2014</a>]. The predicted truncation is hypothesized to cause decorin to accumulate in the cornea, causing corneal opacities. The mechanism of accumulation may be due to aggregation of truncated decorin [<a class="bk_pop" href="#csc-dys.REF.bredrup.2010.5578">Bredrup et al 2010</a>].</p><p>Note: Decorin has attracted particular attention in malignancies where the decorin protein has been shown to be a strong inhibitor of cell growth and to act as a pro-apoptotic agent. None of these studies concerns <a class="def" href="/books/n/gene/glossary/def-item/germline/">germline</a> variants in humans.</p></div></div><div id="csc-dys.References"><h2 id="_csc-dys_References_">References</h2><div id="csc-dys.Literature_Cited"><h3>Literature Cited</h3><ul class="simple-list"><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.acar.2016.2016">Acar BT, Bozkurt KT, Duman E, Acar S. Bilateral cloudy cornea: is the usual suspect congenital hereditary endothelial dystrophy or stromal dystrophy? <span><span class="ref-journal">BMJ Case Rep. </span>2016:2016.</span> [<a href="/pmc/articles/PMC4854138/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4854138</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/27107055" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 27107055</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.bredrup.2005.420">Bredrup C, Knappskog PM, Majewski J, Rødahl E, Boman H. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. <span><span class="ref-journal">Invest Ophthalmol Vis Sci. </span>2005;<span class="ref-vol">46</span>:420–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/15671264" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 15671264</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.bredrup.2010.5578">Bredrup C, Stang E, Bruland O, Palka BP, Young RD, Haavik J, Knappskog PM, Rødahl E. Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. <span><span class="ref-journal">Invest Ophthalmol Vis Sci. </span>2010;<span class="ref-vol">51</span>:5578–82.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/20484579" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 20484579</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.de_cosmo.2002.72">De Cosmo S, Tassi V, Thomas S, Piras GP, Trevisan R, Cavallo Perin P, Bacci S, Zucaro L, Cisternino C, Trischitta V, Viberti GC. The decorin gene 179 allelic variant is associated with a slower progression of renal disease in patients with type 1 diabetes. <span><span class="ref-journal">Nephron. </span>2002;<span class="ref-vol">92</span>:72–6.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/12187087" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 12187087</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.gubbiotti.2018.16940">Gubbiotti MA, Seifert E, Rodeck U, Hoek JB, Iozzo RV. Metabolic reprogramming of murine cardiomyocytes during autophagy requires the extracellular nutrient sensor decorin. <span><span class="ref-journal">J Biol Chem. </span>2018;<span class="ref-vol">293</span>:16940–50.</span> [<a href="/pmc/articles/PMC6204907/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC6204907</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/30049794" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 30049794</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.jing.2014.288">Jing Y, Kumar PR, Zhu L, Edward DP, Tao S, Wang L, Chuck R, Zhang C. Novel decorin mutation in a Chinese family with congenital stromal corneal dystrophy. <span><span class="ref-journal">Cornea. </span>2014;<span class="ref-vol">33</span>:288–93.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/24413633" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 24413633</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.kim.2011.1473">Kim JH, Ko JM, Lee I, Kim JY, Kim MJ, Tchah H. A novel mutation of the decorin gene identified in a Korean family with congenital hereditary stromal dystrophy. <span><span class="ref-journal">Cornea. </span>2011;<span class="ref-vol">30</span>:1473–7.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/21993463" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 21993463</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.lee.2012.301">Lee JH, Ki CS, Chung ES, Chung TY. A novel decorin gene mutation in congenital hereditary stromal dystrophy: a Korean family. <span><span class="ref-journal">Korean J Ophthalmol. </span>2012;<span class="ref-vol">26</span>:301–5.</span> [<a href="/pmc/articles/PMC3408537/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC3408537</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/22870031" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 22870031</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.mellgren.2015.2909">Mellgren AE, Bruland O, Vedeler A, Saraste J, Schönheit J, Bredrup C, Knappskog PM, Rødahl E. Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. <span><span class="ref-journal">Invest Ophthalmol Vis Sci. </span>2015;<span class="ref-vol">56</span>:2909–15.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/26029887" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26029887</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.odland.1968.477">Odland M. Dystrophia corneae parenchymatosa congenita. A clinical, morphological and histochemical examination. <span><span class="ref-journal">Acta Ophthalmol (Copenh). </span>1968;<span class="ref-vol">46</span>:477–85.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/5304426" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 5304426</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.pouliquen.1979.115">Pouliquen Y, Lacombe E, Schreinzer C, Giraud JP, Savoldelli M. Familial congenital dystrophy of the corneal stroma: Turpin's syndrome (author's transl). <span><span class="ref-journal">J Fr Ophtalmol. </span>1979;<span class="ref-vol">2</span>:115–25.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/312637" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 312637</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.rahbari.2016.126">Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR, Hurles ME, et al. Timing, rates and spectra of human germline mutation. <span><span class="ref-journal">Nat Genet. </span>2016;<span class="ref-vol">48</span>:126–33.</span> [<a href="/pmc/articles/PMC4731925/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC4731925</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/26656846" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 26656846</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.r_dahl.2006.520">Rødahl E, Van Ginderdeuren R, Knappskog PM, Bredrup C, Boman H. A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. <span><span class="ref-journal">Am J Ophthalmol. </span>2006;<span class="ref-vol">142</span>:520–1.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/16935612" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 16935612</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.schaefer.2008.21305">Schaefer L, Iozzo RV. Biological functions of the small leucine-rich proteoglycans: from genetics to signal transduction. <span><span class="ref-journal">J Biol Chem. </span>2008;<span class="ref-vol">283</span>:21305–9.</span> [<a href="/pmc/articles/PMC2490788/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2490788</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/18463092" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 18463092</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.turpin.1939.109">Turpin R, Tisserand M, Sérane J. Opacités cornéennes héréditaires et congénitales réparties sur trois générations et atteignant deux jumelles monozygotes. Article in French. <span><span class="ref-journal">Arch Ophthalmol (Paris). </span>1939;<span class="ref-vol">3</span>:109–11.</span></div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.van_ginderdeuren.2002.118">Van Ginderdeuren R, De Vos R, Casteels I, Foets B. Report of a new family with dominant congenital heredity stromal dystrophy of the cornea. <span><span class="ref-journal">Cornea. </span>2002;<span class="ref-vol">21</span>:118–20.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/11805522" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 11805522</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.weiss.2015">Weiss JS, Møller HU, Aldave AJ, Seitz B, Bredrup C, Kivelä T, Munier FL, Rapuano CJ, Nischal KK, Kim EK, Sutphin J, Busin M, Labbé A, Kenyon KR, Kinoshita S, Lisch W (2015) IC3D classification of corneal dystrophies--edition 2. Cornea 34:117-59. [<a href="https://pubmed.ncbi.nlm.nih.gov/25564336" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 25564336</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.witschel.1978.1043">Witschel H, Fine BS, Grützner P, McTigue JW. Congenital hereditary stromal dystrophy of the cornea. <span><span class="ref-journal">Arch Ophthalmol. </span>1978;<span class="ref-vol">96</span>:1043–51.</span> [<a href="https://pubmed.ncbi.nlm.nih.gov/350201" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 350201</span></a>]</div></li><li class="half_rhythm"><div class="bk_ref" id="csc-dys.REF.zhang.2009.8888">Zhang G, Chen S, Goldoni S, Calder BW, Simpson HC, Owens RT, McQuillan DJ, Young MF, Iozzo RV, Birk DE. Genetic evidence for the coordinated regulation of collagen fibrillogenesis in the cornea by decorin and biglycan. <span><span class="ref-journal">J Biol Chem. </span>2009;<span class="ref-vol">284</span>:8888–97.</span> [<a href="/pmc/articles/PMC2659246/" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pmc">PMC free article<span class="bk_prnt">: PMC2659246</span></a>] [<a href="https://pubmed.ncbi.nlm.nih.gov/19136671" ref="pagearea=cite-ref&targetsite=entrez&targetcat=link&targettype=pubmed">PubMed<span class="bk_prnt">: 19136671</span></a>]</div></li></ul></div></div><div id="csc-dys.Chapter_Notes"><h2 id="_csc-dys_Chapter_Notes_">Chapter Notes</h2><div id="csc-dys.Revision_History"><h3>Revision History</h3><ul><li class="half_rhythm"><div>29 November 2018 (sw) Comprehensive update posted live</div></li><li class="half_rhythm"><div>2 February 2012 (me) Comprehensive update posted live</div></li><li class="half_rhythm"><div>25 November 2008 (me) Review posted live</div></li><li class="half_rhythm"><div>10 September 2008 (er) Original submission</div></li></ul></div></div><div id="bk_toc_contnr"></div></div></div>
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<div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Views</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PDF_download" id="Shutter"></a></div><div class="portlet_content"><ul xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="simple-list"><li><a href="/books/NBK2690/?report=reader">PubReader</a></li><li><a href="/books/NBK2690/?report=printable">Print View</a></li><li><a data-jig="ncbidialog" href="#_ncbi_dlg_citbx_NBK2690" data-jigconfig="width:400,modal:true">Cite this Page</a><div id="_ncbi_dlg_citbx_NBK2690" style="display:none" title="Cite this Page"><div class="bk_tt">Rødahl E, Knappskog PM, Bredrup C, et al. Congenital Stromal Corneal Dystrophy. 2008 Nov 25 [Updated 2018 Nov 29]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. 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</li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Related information</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=medgen&DbFrom=books&Cmd=Link&LinkName=books_medgen&IdsFromResult=1476414" ref="log$=recordlinks">MedGen</a><div class="brieflinkpop offscreen_noflow">Related information in MedGen</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=omim&DbFrom=books&Cmd=Link&LinkName=books_omim&IdsFromResult=1476414" ref="log$=recordlinks">OMIM</a><div class="brieflinkpop offscreen_noflow">Related OMIM records</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=pmc&DbFrom=books&Cmd=Link&LinkName=books_pmc_refs&IdsFromResult=1476414" ref="log$=recordlinks">PMC</a><div class="brieflinkpop offscreen_noflow">PubMed Central citations</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=pubmed&DbFrom=books&Cmd=Link&LinkName=books_pubmed_refs&IdsFromResult=1476414" ref="log$=recordlinks">PubMed</a><div class="brieflinkpop offscreen_noflow">Links to PubMed</div></li><li class="brieflinkpopper"><a class="brieflinkpopperctrl" href="/books/?Db=gene&DbFrom=books&Cmd=Link&LinkName=books_gene&IdsFromResult=1476414" ref="log$=recordlinks">Gene</a><div class="brieflinkpop offscreen_noflow">Locus Links</div></li></ul></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Similar articles in PubMed</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="PBooksDiscovery_RA" id="Shutter"></a></div><div class="portlet_content"><ul><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301510" ref="ordinalpos=1&linkpos=1&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> FBN1-Related Marfan Syndrome.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> FBN1-Related Marfan Syndrome.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Dietz H. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301625" ref="ordinalpos=1&linkpos=2&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Retinoblastoma.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Retinoblastoma.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Lohmann DR, Gallie BL. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301765" ref="ordinalpos=1&linkpos=3&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Von Willebrand Disease.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Von Willebrand Disease.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Johnsen J. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301668" ref="ordinalpos=1&linkpos=4&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Hemophilia B.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Hemophilia B.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Konkle BA, Nakaya Fletcher S. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li><li class="brieflinkpopper two_line"><a class="brieflinkpopperctrl" href="/pubmed/20301551" ref="ordinalpos=1&linkpos=5&log$=relatedreviews&logdbfrom=pubmed"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Sickle Cell Disease.</a><span class="source">[GeneReviews(®). 1993]</span><div class="brieflinkpop offscreen_noflow"><span xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="invert">Review</span> Sickle Cell Disease.<div class="brieflinkpopdesc"><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="author">Bender MA, Carlberg K. </em><em xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" class="cit">GeneReviews(®). 1993</em></div></div></li></ul><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed_reviews&uid=20301741" ref="ordinalpos=1&log$=relatedreviews_seeall&logdbfrom=pubmed">See reviews...</a><a class="seemore" href="/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed&uid=20301741" ref="ordinalpos=1&log$=relatedarticles_seeall&logdbfrom=pubmed">See all...</a></div></div><div class="portlet"><div class="portlet_head"><div class="portlet_title"><h3><span>Recent Activity</span></h3></div><a name="Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="recent_activity" id="Shutter"></a></div><div class="portlet_content"><div xmlns:np="http://ncbi.gov/portal/XSLT/namespace" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" id="HTDisplay" class=""><div class="action"><a href="javascript:historyDisplayState('ClearHT')">Clear</a><a href="javascript:historyDisplayState('HTOff')" class="HTOn">Turn Off</a><a href="javascript:historyDisplayState('HTOn')" class="HTOff">Turn On</a></div><ul id="activity"><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d3889267c23b31e0e158da">Congenital Stromal Corneal Dystrophy - GeneReviews®</a><div class="ralinkpop offscreen_noflow">Congenital Stromal Corneal Dystrophy - GeneReviews®<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=2" href="/portal/utils/pageresolver.fcgi?recordid=67d388912f30673f7b1fa8b3">Table B. [OMIM Entries for Congenital Stromal Corneal Dystrophy (View All in OMI...</a><div class="ralinkpop offscreen_noflow">Table B. [OMIM Entries for Congenital Stromal Corneal Dystrophy (View All in OMIM)]. - GeneReviews®<div class="brieflinkpopdesc"></div></div><div class="tertiary"></div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67d38874cde49f3df7fd69b4">RecName: Full=Decorin; AltName: Full=Bone proteoglycan II; AltName: Full=PG-S2; ...</a><div class="ralinkpop offscreen_noflow">RecName: Full=Decorin; AltName: Full=Bone proteoglycan II; AltName: Full=PG-S2; AltName: Full=PG40; Flags: Precursor<div class="brieflinkpopdesc">gi|129951|sp|P07585.1|PGS2_HUMAN</div></div><div class="tertiary">Protein</div></li><li class="ra_rcd ralinkpopper two_line"><a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d3885f2f30673f7b1e83b6">Congenital stromal corneal dystrophy</a><div class="ralinkpop offscreen_noflow">Congenital stromal corneal dystrophy<div class="brieflinkpopdesc"></div></div><div class="tertiary">MedGen</div></li><li class="ra_qry two_line"><a class="htb" ref="log$=activity&linkpos=5" href="/portal/utils/pageresolver.fcgi?recordid=67d3885dcde49f3df7fce7b9">C1864738[conceptid] <span class="number">(1)</span></a><div class="tertiary">MedGen</div></li></ul><p class="HTOn">Your browsing activity is empty.</p><p class="HTOff">Activity recording is turned off.</p><p id="turnOn" class="HTOff"><a href="javascript:historyDisplayState('HTOn')">Turn recording back on</a></p><a class="seemore" href="/sites/myncbi/recentactivity">See more...</a></div></div></div>
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