N102S Mutation of UBIAD1 Gene in a Family with Schnyder Crystalline Corneal Dystrophy
Journal of the Korean Ophthalmological Society
;
: 440-446, 2010.
Artículo
en Coreano
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Distrofias Hereditarias de la Córnea
/
Mutación Puntual
/
Córnea
/
Cristalinas
/
Enfermedades Raras
/
Corea (Geográfico)
Límite:
Humanos
País/Región como asunto:
Asia
Idioma:
Coreano
Revista:
Journal of the Korean Ophthalmological Society
Año:
2010
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS