Advances in genetic study of achromatopsia
10.3760/cma.j.issn.2095-0160.2015.08.020
- VernacularTitle:全色盲遗传学研究进展
- Author:
Xiaofang, LIANG
- Publication Type:Journal Article
- Keywords:
Achromatopsia;
Mutation;
Disease models,animal;
Gene therapy
- From:
Chinese Journal of Experimental Ophthalmology
2015;33(8):764-767
- CountryChina
- Language:Chinese
-
Abstract:
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.
