Corneal Dystrophy
Gene: DCN
Congenital stromal corneal dystrophy (CSCD) is a rare autosomal dominant eye disease characterized by diffuse bilateral corneal clouding with flake-like whitish opacities throughout the stroma. These small flakes and spots are present at or shortly after birth and are thought to become more numerous with age. Some affected individuals may have strabismus or nystagmus. Normal corneal thickness, horizontal diameter, and endothelial function distinguish the condition from other congenital corneal opacifications.
At least 4 unrelated families reported.Created: 5 Jan 2021, 8:02 p.m. | Last Modified: 5 Jan 2021, 8:02 p.m.
Panel Version: 0.41
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Corneal dystrophy, congenital stromal, MIM# 610048
Publications
Gene: dcn has been classified as Green List (High Evidence).
Phenotypes for gene: DCN were changed from to Corneal dystrophy, congenital stromal, MIM# 610048
Publications for gene: DCN were set to
Mode of inheritance for gene: DCN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: DCN was added gene: DCN was added to Corneal Dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DCN was set to Unknown