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KMID : 0360220100510030440
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Journal of the Korean Ophthalmological Society
2010 Volume.51 No. 3 p.440 ~ p.446
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N102S Mutation of UBIAD1 Gene in a Family with Schnyder Crystalline Corneal Dystrophy
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Chung Woo-Suk
Hong Hye-Kyoung
Kim Tae-Im
Kim Eun-Ji
Kim Eung-Kweon
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Abstract
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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.
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KEYWORD
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Cornea, N102S, Schnyder corneal dystrophy, Schnyder crystalline corneal dystrophy, UBIAD1
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