Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 01-05-2011
Symbol CSCD
Location 12q21.33
Name congenital stroma corneal dystrophy
Corresponding gene DCN
Main clinical features stromal opacities that morphologically are seen as corneal interlamellar layers of amorphous substance with small filaments
Genetic determination autosomal dominant
Function/system disorder eye
Type malformation
Gene product
Name decorin
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
deletion   truncated protein  
Remark(s) decorin accumulation appears to contribute to the stromal opacities that are characteristic of CSCD (PMID: 20484579))