Advances in genetic study of achromatopsia / 中华实验眼科杂志
Chinese Journal of Experimental Ophthalmology
;
(12): 764-767, 2015.
Article
in Chinese
| WPRIM
| ID: wpr-637574
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 achromatopsiacyclic 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Experimental Ophthalmology
Year:
2015
Type:
Article
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