常染色体显性视神经萎缩研究进展

摘要

常染色体显性视神经萎缩(ADOA),又称为Kjer型视神经萎缩,是显性遗传性视神经疾病中最常见的一种,其发病率为1∶10 000-1∶50 000.其主要的临床表现为视力下降、色觉障碍、视野缺损等,特征性的眼底改变为颞侧视盘苍白.本病还可以伴随听力下降、白内障、眼外肌麻痹、上睑下垂等.目前,已发现的ADOA侯选基因位点包括OPA1(3q28-29)、OPA3(19q13.2-13.3)、OPA4(18q12.2-12.3)和OPA5(22q12.1-13.1)等.其中,OPA1与OPA3位点均已克隆出相应的同名基因,但本病的基因型与表型的关系及致病机制还不十分明确.就ADOA的临床表现、与ADOA相关的侯选基因、位点及其鉴别诊断的最新研究进行总结.%Autosomal dominant optic atrophy(ADOA),also called Kjer-type optic atrophy,is the most decrease of visual acuity,color vision deficit,visual field defects,and it is also characterized by temporal pallor of the optic disc.Deafness,cataract,ophthalmoplegia,ptosis and so on,can also accompany ADOA.Up to now,it has been verified that four known genetic loci are associated with ADOA,including OPA1(3q28-29),OPA3(19q13.2-13.3),OPA4(18q12.2-12.3)and OPA5(22q12.1-13.1).The OPA1 and OPA3 genes have been cloned.But genotypephenotype correlations and pathogenic mechanisms of ADOA are not very clear.The recent researches about clinical features,relevant candidate gene and loci,differentiation diagnosis were reviewed.