视紫红质基因型与视网膜色素变性临床表型相关性的初步研究

目的:对国人视网膜色素变性(retinitis pigmentosa RP)患者中视紫红质基因不同突变与临床表型相关性进行初步研究。方法:对经异源双链-SSCP和序列分析确定为视紫红质基因不同位点突变的3例RP患者,收集其详细临床资料,比较其异同。结果:详细描述了3例已知突变患者的临床表现。视紫红质基因不同位点突变,临床表现不尽相同,发生在杆细胞外节胞液侧的突变,常导致严重类型的Ⅰ型视网膜色素变性;而发生在杆细胞外节盘膜内的突变,常引起相对较轻的Ⅱ型视网膜色素变性。结论:本文3例视紫红质基因不同位点突变与临床表型有一定关系,但要建立基因突变与表型间确切的对应关系和规律,尚需积累更多病例资料进一步分析研究。眼科学报1999;15:204-206。

Genotype-Phenotype Correlation in Chinese Patients with Retinitis Pigmentosa Due to Rhodopsin Mutation

Purpose: To investigate the genotype-phenotype correlation in Chinese patients with retini-tis pigmentosa caused by rhodopsin gene mutation.Methods: On the basis of the onset of symptoms, degree of morphological changes and progression of visual disability in three (3/83) patients with identified mutations, the correlation of the phenotype with the corresponding mutations was assessed. Results: There was a certain degree of allele-specificity. Severe form of retinitis pigmentosa was found in patients with mutation in the cytoplasmic domain and mild form of retinitis pigmentosa in patients with mutation in the intradiscal domain.Conclusion ? Although there is a certain relation between the mutant rhodopsin and ocular manifestation, we need to accumulate more materials before relating a rhodopsin mutation to a specific phenotype. Eye Science 1999; 15: 204 - 206.