J Korean Ophthalmol Soc > Volume 51(3); 2010 > Article
Journal of the Korean Ophthalmological Society 2010;51(3):440-446.
DOI: https://doi.org/10.3341/jkos.2010.51.3.440    Published online March 15, 2010.
N102S Mutation of UBIAD1 Gene in a Family with Schnyder Crystalline Corneal Dystrophy.
Woo Suk Chung, Hye Kyoung Hong, Tae Im Kim, Eun Ji Kim, Eung Kweon Kim
Corneal Dystrophy Research Institute, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea. eungkkim@yuhs.ac
Schnyder씨 결정각막이상증 가족의 UBIAD1 유전자의 N102S 돌연변이
정우석ㆍ홍혜경ㆍ김태임ㆍ김은지ㆍ김응권
Corneal Dystrophy Research Institute, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea
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.
Key Words: Cornea;N102S;Schnyder corneal dystrophy;Schnyder crystalline corneal dystrophy;UBIAD1


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