视网膜色素变性

通过利用藻类中首次发现的感光蛋白，一名完全失明男子的部分视力得到了恢复。40年前，这名来自法国布列塔尼的男子被诊断患有视网膜色素变性。

The man from Brittany in France was diagnosed with retinitis pigmentosa 40 years ago .

应用连锁分析方法对X连锁型视网膜色素变性进行基因诊断的研究

Gene diagnosis of X linked retinitis pigmentosa by linkage analysis

两例疑为X连锁型视网膜色素变性家系的单倍型分析研究

Haplotype analysis of two families with X - linked retinitis pigmentosa

应用微卫星多态位点对X连锁型视网膜色素变性疾病进行遗传连锁分析的研究

Investigation on genetic linkage analysis of X-linked retinitis pigmentosa using microsatellite markers

目的探讨用连锁分析方法对X连锁型视网膜色素变性（RP）进行基因诊断的可行性。

Objective To establish a gene diagnosis method for X linked retinitis pigmentosa ( XLRP ) .

RCS大鼠视网膜色素变性过程中视网膜形态学研究

Morphological study of retina in RCS rats during retinal degeneration

促红细胞生成素对视网膜色素变性的RCS大鼠的作用

The effect of erythropoietin on the course of hereditary retinal dystrophy in RCS rats

川芎嗪对视网膜色素变性rd小鼠的干预作用及其抗凋亡作用机制研究

The interventional effect and anti - apoptosis mechanism of ligustrazine on the rd mice

目的探讨原发性视网膜色素变性（RP）合并视网膜血管闭塞患者的临床特点及预后。

Objective To observe clinical features of Retinitis pigmentosa with retinal vascular occlusion and its prognosis .

RHO基因突变在视网膜色素变性中的分子遗传学分析

Molecular study on rhodopsin gene point mutations in retinitis pigmentosa

NADH-细胞色素b5还原酶在视网膜色素变性rds小鼠中的差异表达

Differential expression of NADH-cytochrome b5 reductase in the rds mouse

目的研究我国一个4代常染色体显性遗传视网膜色素变性（RP）家系患者的致病基因突变位点及临床表型特征。

Objective To identify mutations in a four-generation Chinese family with retinitis pigmentosa and to investigate its clinical phenotype .

580眼视网膜色素变性患者ERG改变的研究

Research of Electroretinography for 580 Eyes with Retinitis Pigmentosa

两个家系中X连锁视网膜色素变性的RP2基因无义突变

Identification of a nonsense mutation causing X-linked RP 2 in two Chinese families

原发性视网膜色素变性家系的RDS基因Pro216Leu突变及其表型研究

The study of RDS gene mutation and clinical phenotype in a family with primary retinitis pigmentosa

视网膜色素变性（RetinitisPigmentosa，RP）是遗传性盲目最常见的病因之一。

Retinitis pigmentosa ( RP ) is one of the most common etiological factors for hereditary blind .

我们实验室发现并建立了一种患有视网膜色素变性疾病的近交系小鼠（rdf小鼠，现已繁殖到F18代）。

Our laboratory found and has been establishing an inbred mouse model of retinitis pigmentosa .

视网膜色素变性（RetinitisPigmentosa，RP）是常见的遗传性视网膜变性疾病，它具有高度的遗传异质性，有不同的遗传方式和临床表型。

Retinitis pigmentosa is a common genetic form of retinal degeneration . It is very heterogeneous , both genetically and phenotypically .

结果在视网膜色素变性发病过程中，rds小鼠的视网膜存在着相当明显的基因表达差异。

Results There was obvious difference of gene expression between rds mouse and the control during the development of retinitis pigmentosa .

目的检测引起2个家系产生X连锁视网膜色素变性的RP2基因突变。

Objective To detect mutations of the RP2 gene in two Chinese families with X linked retinitis pigmentosa ( XLRP ) .

目的探讨金纳多（Ginaton，EGb761）对RCS大鼠视网膜色素变性神经元保护作用的机制。

Objective To explore the protective mechanisms of Ginaton ( EGb761 ) on hereditary retinal dystrophy in RCS rats .

⑵MFT呈常染色体显性遗传；常染色体显性遗传性视网膜色素变性基因型-表型研究进展

⑵ The pattern of inheritance was autosomal dominant . Study on genotype - phenotype of autosomal dominant retinitis pigmentosa

40%-50%的患者为散发或单发，无家族发病史，称为散发性视网膜色素变性（sporadicretinitispigmentosa，SRP）。

About 40-50 percent cases are distributed or single have no family history of disease , called sporadic retinitis pigmentosa ( SRP ) .

目的：探讨玻璃体腔注射睫状神经营养因子（ciliaryneuyotrophicfactor，CNTF）对视网膜色素变性RD小鼠视网膜形态结构的保护作用。

Objective : To investigate the protective effect of ciliary neurotrophic factor ( CNTF ) on retinal structure and function of rd mouse through vitreous injection .

结论：CNTF玻璃体腔注射延缓了感受器细胞的凋亡，对视网膜色素变性RD小鼠有治疗作用。

Conclusion : Vitreous injection of CNTF can slow the photoreceptors on rd mouse and may have therapeutic effect on the retinitis pigmentosa of rd mouse .

目的确定一个常染色体显性遗传视网膜色素变性（autosomaldominantretinitispigmentosa，ADRP）家系中的疾病基因与3号染色体视紫红质基因的关系。

Objective To study the relationship between the rhodopsin gene on chromosome 3 and autosomal dominant retinitis pigmentosa ( ADRP ) in a Chinese kindred .

背景：视网膜色素变性（RetinitisPigmentosa，RP）是常见的引起视力下降甚至完全失明的眼病。

Background : Retinitis pigmentosa ( RP ) is one of the most common ophthalmopathy , with permanent visual loss or even blindness as the ultimate consequence .

视网膜色素变性（RetinitisPigmentosa，RP）是导致视觉损害最常见的遗传性眼病，历来是众医学家的研究焦点。

Retinitis pigmentosa ( RP ) is the most common inherent eye disease which causes visual deficiency . It 's always the study focus of many ophthalmologists .

目的观察异体组织埋藏法治疗视网膜色素变性（RP）患者视力、视野和眼底荧光血管造影变化，探讨治疗作用机理。

Objective To investigate the changes of vision and fluorescent fundus angiography ( FFA ) in patients with retinitis pigmentosa ( RP ) treated by implanting foreign tissue and its mechanism of action .

目的研究视网膜色素变性（RP）的多焦视网膜电图（ERG）特性和评价多焦ERG应用价值。

Objective To investigate the characteristics of the multifocal electroretinogram ( ERG ) and to evaluate the application values of the multifocal ERG in retinitis pigmentosa ( RP ) .