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 mutation | Chromosome rearrangement | Effect | Comments |
|
---|
deletion
|  
| truncated protein
|  
| |
Remark(s)
|
decorin accumulation appears to contribute to the stromal opacities that are characteristic of CSCD (PMID: 20484579)) |