Progression of autosomal dominant optic atrophy / 中华实验眼科杂志

ABSTRACT

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.