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 |
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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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