A study concerning the association between genotype and phenotype in the inherited ocular diseases

点击翻译按钮获取中文摘要

Most cases with choroideremia, juvenile retinoschisis and fundus albipunatatus (FA) were caused by the mutations of REP-1, XLRS1 and RDH5 genes respectively. No genotype-phenotype co-relation was recognized in these three diseases. Cone dysfunction was sometimes associated with FA.Since genetic analysis revealed that most of cases with FA associate cone dysfunction in their forties, FA is not stationary but progressive disease.Tight genotype-phenotype co-relation was recognized in the corneal dystophies. Granular, Avellino, lattice type 1, lattice type 3, Reis-Bucklers corneal dystrophies were caused by R555W, R124H, both R124C and L518P, L527R, R555Q mutations of βig-h3 gene respectively. Homozygote of the R124H mutation of the βig-h3 gene shows severe clinical finding. Although most of lattice type 3 corneal dystrophy in Kansai area were caused by a P501T mutation of the βig-h3 gene, cases in Kanto and Chubu area were caused by the L527R mutation.Myocilin/TIGR gene mutations were found in glaucoma patients at the rate of 3%, not so high. Genetic heterogeneity is observed in glaucoma patients and no genotype-phenotype co-relation was recognized. Large deletion in promoter area of the red green gene was recognized in a Japanese family with blue-cone monochromatism. Leber hereditary optic neuropathy caused by the mitochondria mutations in nucleotide position 14484 and 3460. No genotype-phenotype co-relation was recognized in our cases.