Corneal Dystrophy
Gene: DCN

DCN (decorin)
EnsemblGeneIds (GRCh38): ENSG00000011465
EnsemblGeneIds (GRCh37): ENSG00000011465
OMIM: 125255, Gene2Phenotype
DCN is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 5 Jan 2021, 8:02 p.m.
Last Modified: 5 Jan 2021, 8:02 p.m.
Panel version: 0.41

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Corneal dystrophy, congenital stromal, MIM# 610048

OMIM

125255

Clinvar variants

Variants in DCN

Penetrance

None

Publications

Panels with this gene