Congenital stromal corneal dystrophy

Definition:

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.

References:

[1]. Gordon K Klintworth, et al. Corneal dystrophies. Orphanet J Rare Dis. 2009 Feb 23;4:7. [Content Brief]

[2]. Vasilliki Poulaki, et al. Genetics of anterior and stromal corneal dystrophies. Semin Ophthalmol. 2008 Jan-Feb;23(1):9-17. [Content Brief]

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