Advances in genetic study of achromatopsia

Authors: Liang Xiaofang,  Sui Ruifang,  Dong Fangtian
DOI: 10.3760/cma.j.issn.2095-0160.2015.08.020
Published 2015-08-10
Cite as Chin J Exp Ophthalmol, 2015,33(8): 764-767.

Abstract                              [Download PDF] [Read Full Text]

Achromatopsia is a kind of autosomal recessive cone disorder. It occurs with nystagmus, photophobia, inability of color discrimination and severely reduced visual acuity. Five pathogenic genes had been reported to be associated with achromatopsia: cyclic nucleotide-gated(CNG)A3, CNGB3, guanine nucleotide binding protein alpha transduction active pepitide 2(GNAT2), phosphodiesterase (PDE)6C and PDE6H. They are crucial for cone phototransduction. Mutations of these genes can induce achromatopsia. Gene therapy, which can recover partial visual function, has been successfully used for the treatment of achromatopsia in animal model. Clinical features, pathogenic genes functions and mutations, the animal models and gene therapy of achromatopsia were reviewed.

Key words:

Achromatopsia; Mutation; Disease models, animal; Gene therapy

Contributor Information

Liang Xiaofang
Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China
Sui Ruifang
Dong Fangtian
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