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

REP-1、XLRS1和RDH5基因突变分别与脉络膜血症、幼年性视网膜劈裂和眼底白化(FA)有关。在这三种疾病中没有发现基因-表型的相关性。视锥功能障碍有时与FA相关。由于遗传分析显示，大多数FA患者在40多岁时伴有视锥功能障碍，FA不是静止性疾病，而是进行性疾病。在角膜病变中，存在明显的基因-表型相关性。βig-h3基因R555W、R124H、R124C和L518P、L527R、R555Q突变分别导致颗粒型、Avellino、晶格型、晶格型、Reis-Buckler角膜营养不良。βig-h3基因R124H突变纯合子临床表现严重。虽然关西地区大部分晶格型3型角膜营养不良是由βig-h3基因的P501T突变引起的，但关东和中部地区的病例是由L527R突变引起的。青光眼患者中Myoclin/TIGR基因突变的发生率为3%，不是很高。在青光眼患者中观察到了遗传异质性，没有发现基因型和表型之间的相关性。在一个日本蓝锥体单色性家系中发现了红绿基因启动子区域的大缺失。14484位和3460位线粒体突变引起的Leber遗传性视神经病变。在我们的病例中，没有发现基因-表型的相关性。

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.