视网膜色素变性的实验研究进展

Progress in experimental research of retinitis pigmentosa

摘要:

视网膜色素变性是一种遗传性眼病，遗传方式包括常染色体显性遗传、常染色体隐性遗传及性连锁隐性遗传等，目前已知的突变位点超过3 000个，造成本病临床治疗困难。眼科学者致力于探索视网膜色素变性的治疗方式，进行了大量实验研究，主要有药物治疗、细胞移植、基因治疗等治疗方式。药物治疗包括中药、抗氧化剂、抗凋亡剂、神经营养因子等，与其它治疗方式相比，无侵入性，且方便价廉，但其作用机制尚需更深入的研究。细胞移植被认为是治疗视网膜色素变性的有效方法，但有可能引起视网膜前膜及黄斑皱褶。基因治疗虽然存在一定的局限性，但随着基因编辑技术和新型基因递送载体的发展，未来会成为视网膜色素变性最有希望的治疗方式之一。本文对近年来视网膜色素变性的实验研究进行了综述与展望。

Abstract:

Retinitis pigmentosa is an inherited eye disease. The inheritance methods include autosomal dominant inheritance, autosomal recessive inheritance, and sex-linked recessive inheritance. Currently, there are more than 3,000 mutation sites, which makes clinical treatment of this disease difficult. Ophthalmologists are committed to exploring the treatment of retinitis pigmentosa, and have conducted a large number of experimental studies, mainly including drug treatment, cell transplantation, gene therapy, etc. Drug therapy includes traditional Chinese medicine, antioxidants, anti-apoptotic agents, neurotrophic factors, etc. Compared with other treatment methods, it is non-invasive and convenient and cheap, but its mechanism of action needs further research. Cell transplantation is considered an effective method for the treatment of retinitis pigmentosa, but it may cause preretinal membrane and macular folds. Although gene therapy has certain limitations, with the development of gene editing technology and new gene delivery vectors, it will become one of the most promising treatments for retinitis pigmentosa in the future. This article reviews and prospects the recent experimental research on retinitis pigmentosa.