摘要遗传性视网膜变性(IRD)是一组具有高遗传异质性并且在遗传模式、发病年龄与视力障碍的严重程度等方面表现各异的疾病,基因治疗是其治疗研究热点.国内外多项临床试验结果证明了基因治疗在IRD中的安全性及有效性.以腺相关病毒为基因载体的Leber先天性黑曚及无脉络膜症的临床试验结果显示,接受治疗后患者视网膜功能均得到了不同程度的改善;另有多个其他IRD疾病相关的临床试验正在进行中.为今后更好地治疗此类疾病奠定了坚实基础,为根治IRD带来了新的可能与希望.

abstractsInherited retinal degenerations (IRD) are a group of diseases with high genetic heterogeneity and differences in inheritance patterns,age of onset and severity of visual dysfunction.It is one of the leading causes of blindness.In recent years,gene therapy becomes a popular research area in the treatment of genetic diseases due to the rapid development of gene diagnosis technology.Several clinical trials worldwide have proved the safety and effectiveness of gene therapies in IRD.Clinical application of adeno-associated virus-mediated gene therapies for Leber congenital amaurosis and choroideremia clinical trials indicate that patients' retinal functions were improved at different levels after treatment.There are a number of other IRD clinical trials ongoing currently,which bring new possibilities to treat IRD.This article reviews the pathogenesis of IRD,gene vectors and clinical trials in IRD.