Purpose: Schnyder crystalline corneal dystrophy (SCCD) is an autosomal dominant disease characterized by progressive central
corneal opacification and premature development of peripheral arcus in the cornea. This disease results from a point mutation
of UBIAD1 in chromosome 1p34-36. Until now, 15 different mutations of UBIAD1 gene on chromosome 1p34-36 have been reported
for Schnyder crystalline corneal dystrophy. More point mutations are expected to be added to the list in the future.
Schnyder crystalline corneal dystrophy is a rare disease, with only three reported cases in Korea, although there has been no
report of a genetically confirmed case of the disease.
Case summary: We encountered six patients with an N102S mutation of UBIAD1, who are from a family of two generation with
12 family members. Genetic confirmation for Schnyder crystalline corneal dystrophy was performed on these patients. This was the
first report of a genetic confirmation of Schnyder crystalline corneal dystrophy in Korea. We will discuss our cases along with
a review of the related literature