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Ophthalmology and Visual Sciences

Schnyder Corneal Dystrophy

Schnyder Corneal Dystrophy

Category(ies): Cornea, Inherited Eye Disease
Contributor: Jesse Vislisel, MD
Photographer: Tracy Aly, CRA

Schnyder crystalline corneal dystrophy is an autosomal dominant condition caused by a mutation in the UbiA prenyltransferase domain-containing protein 1 (UVIAD1). It results in deposition of cholesterol and phospholipid crystals in the central corneal stroma. Later, the patients develop a dense corneal arcus, and eventually midperipheral corneal opacification and decreased corneal sensation.

OMIM #121800