Congenital stromal corneal dystrophy;
Congenital hereditary stromal dystrophy;
Witschel dystrophy

Congenital stromal corneal dystrophy (CSCD) is a rare condition characterized by numerous opaque flaky or feathery clouding of the corneal stroma. The flakes and spots become more numerous with age and are slowly progressive to decrease the visual acuity. In CSCD, the morphologic abnormalities include a peculiar arrangement of tightly packed lamellae having highly aligned collagen fibrils of an unusually small diameter. Refractive error, photophobia, strabismus and resulting amblyopia with searching nystagmus are common in affected individuals. CSCD is linked to mutations in the decorin gene, which encodes for a dermatan sulfate proteoglycan.

Nervous system disease

nt06539 Cytoskeleton in muscle cells

DCN [HSA:1634] [KO:K04660]

PMID:19236704

PMID:18214787