N102S Mutation of UBIAD1 Gene in a Family with Schnyder Crystalline Corneal Dystrophy.
10.3341/jkos.2010.51.3.440
- Author:
Woo Suk CHUNG
1
;
Hye Kyoung HONG
;
Tae Im KIM
;
Eun Ji KIM
;
Eung Kweon KIM
Author Information
1. Corneal Dystrophy Research Institute, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea. eungkkim@yuhs.ac
- Publication Type:Case Report
- Keywords:
Cornea;
N102S;
Schnyder corneal dystrophy;
Schnyder crystalline corneal dystrophy;
UBIAD1
- MeSH:
Cornea;
Corneal Dystrophies, Hereditary;
Crystallins;
Humans;
Korea;
Point Mutation;
Rare Diseases
- From:Journal of the Korean Ophthalmological Society
2010;51(3):440-446
- CountryRepublic of Korea
- Language:Korean
-
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.
