Schnyder씨 결정각막이상증 가족의 UBIAD1 유전자의 N102S 돌연변이

• 영문명: N102S Mutation of UBIAD1 Gene in a Family with Schnyder Crystalline Corneal Dystrophy
• 발행기관: 대한안과학회
• 저자명: 정우석 홍혜경 김태임 김은지 김응권,Woo Suk Chung, MD, Hye Kyoung Hong, PhD, Tae-Im Kim, MD, Eun-Ji Kim, MD, Eung Kweon Kim, MD, PhD
• 간행물 정보: 『대한안과학회지』Ophthalmological Society,volume51,number3, 440~446쪽, 전체 7쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2010.03.15

영문 초록

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

키워드

Cornea, N102S, Schnyder corneal dystrophy, Schnyder crystalline corneal dystrophy, UBIAD1