N102S Mutation of UBIAD1 Gene in a Family with Schnyder Crystalline Corneal Dystrophy
Journal of the Korean Ophthalmological Society
;
: 440-446, 2010.
Article
in Korean
| WPRIM
| ID: wpr-155241
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. CASESUMMARY:
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Corneal Dystrophies, Hereditary
/
Point Mutation
/
Cornea
/
Crystallins
/
Rare Diseases
/
Korea
Limits:
Humans
Country/Region as subject:
Asia
Language:
Korean
Journal:
Journal of the Korean Ophthalmological Society
Year:
2010
Type:
Article
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