Your browser doesn't support javascript.
loading
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. 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.
Asunto(s)

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

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