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Schnyder씨 결정각막이상증 가족의 UBIAD1 유전자의 N102S 돌연변이

Other Titles
 N102S Mutation of UBIAD1 Gene in a Family with Schnyder Crystalline Corneal Dystrophy 
Authors
 정우석  ;  홍혜경  ;  김태임  ;  김은지  ;  김응권 
Citation
 JOURNAL OF THE KOREAN OPHTHALMOLOGICAL SOCIETY, Vol.51(3) : 440-446, 2010 
Journal Title
 JOURNAL OF THE KOREAN OPHTHALMOLOGICAL SOCIETY 
ISSN
 0378-6471 
Issue Date
2010
Keywords
Cornea ; N102S ; Schnyder corneal dystrophy ; Schnyder crystalline corneal dystrophy ; UBIAD1
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
Files in This Item:
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DOI
10.3341/jkos.2010.51.3.440
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Eung Kweon(김응권) ORCID logo https://orcid.org/0000-0002-1453-8042
Kim, Tae Im(김태임) ORCID logo https://orcid.org/0000-0001-6414-3842
Chung, Woo Suk(정우석)
Hong, Hye Kyoung(홍혜경)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/102140
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