Progress in the research on clinical features of Best vitelliform macular dystrophy and mutations in BEST1 gene / 国际眼科杂志(Guoji Yanke Zazhi)
International Eye Science
;
(12): 621-624, 2015.
Article
Dans Chinois
| WPRIM
| ID: wpr-637258
ABSTRACT
Best vitelliform macular dystrophy ( BVMD ) is an autosomal dominant disease mostly caused by mutations in BEST1 gene. These mutations change the normal physiological functions of BEST1-encoded bestrophin-1 protein, and finally lead to a reduction of visual acuity. This review is composed of the following aspects the structure and functions of BEST1 gene, the characteristics of the mutations, clinical features of BVMD, genotype-phenotype correlations as well as possible gene therapy. Our contribution serves for further research on BVMD and BEST1 gene.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
langue:
Chinois
Texte intégral:
International Eye Science
Année:
2015
Type:
Article
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