J Korean Ophthalmol Soc.  2010 Mar;51(3):440-446.

N102S Mutation of UBIAD1 Gene in a Family with Schnyder Crystalline Corneal Dystrophy

• Chung WS
• Hong HK
• Kim TI
• Kim EJ
• Kim EK

Abstract

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.

Keyword

Cornea; N102S; Schnyder corneal dystrophy; Schnyder crystalline corneal dystrophy; UBIAD1

MeSH Terms

Cornea
Corneal Dystrophies, Hereditary
Crystallins
Humans
Korea
Point Mutation
Rare Diseases
Corneal Dystrophies, Hereditary
Crystallins