Four Cases of Avellino Corneal Dystrophy Concurrent with Floppy Eyelid Syndrome
Journal of the Korean Ophthalmological Society
;
: 2934-2941, 2003.
Artigo
em Coreano
| WPRIM
| ID: wpr-212676
ABSTRACT
PURPOSE:
Avellino corneal dystrophy (ACD) is the most common form of inherited corneal disorder in Korea. To report 4 cases of ACD concurrent with floppy eyelid syndrome (FES), which had not been previously reported, and to find an additional mutation.METHODS:
Five patient in 2 families who were diagnosed as ACD patient were examined whether they had FES. PCR, cold-SSCP and sequencing analysis were performed for identification of genetic defect.RESULTS:
Four of 5 ACD patients showed FES which characterized by easily everted eyelid and conjunctival papillary reaction. In one family, succeeding two generations had this feature. We identified R124H mutation in all 5 ACD patients, however, no additional mutation wsa identified in BIGH3 gene.CONCLUSIONS:
One case series suggested that there may be some linkage between the genes responsible for ACD and FES.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Características da Família
/
Reação em Cadeia da Polimerase
/
Polimorfismo Conformacional de Fita Simples
/
Pálpebras
/
Coreia (Geográfico)
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Coreano
Revista:
Journal of the Korean Ophthalmological Society
Ano de publicação:
2003
Tipo de documento:
Artigo
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