Research progress of Schnyder crystalline corneal dystrophy in molecular basis and clinic

Abstract:

Schnyder crystalline corneal dystrophy(SCCD)is a rare autosomal dominant genetic disorder that occurs in bilateral corneas and is associated with crystalline opacification. SCCD is an inherited eye disease and distributes equally in both man and woman. Clinical research revealed that corneal crystalline turbidity resulted from the abnormal accumulation of cholesterol, phospholipid and other lipids in the corneal epithelium and stroma. The occurrence of SCCD is related to abnormal lipid metabolism caused by UBIAD1 mutation, but the molecular basis of the disease is unknown. This paper reviews the discovery and developmental history of SCCD, the molecular basis of SCCD and its clinical research, which provides guidance for the diagnosis and treatment of SCCD and the elucidation of pathogenic molecular mechanism.

Key words:Schnyder crystalline corneal dystrophy; UBIAD1; clinical research