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全色盲是一种常染色体隐性遗传视锥细胞功能障碍疾病,主要表现为畏光、眼球震颤、视力下降和色觉异常.目前共发现5个全色盲致病基因,分别是环核苷酸门控通道α3(CNGA3)、CNGB3、鸟嘌呤结合蛋白α转导活性肽2(GNAT2)、磷酸二酯酶6C(PDE6C)和PDE6H,这些基因在光传导通路中发挥重要作用,可导致全色盲的发生.部分全色盲动物模型通过基因治疗在一定程度上恢复了视功能.就全色盲的临床特点及遗传学研究,包括全色盲致病基因功能概况及基因突变、全色盲的动物模型和基因治疗进行综述.“,”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.