摘要
RP是一组以感光细胞死亡为主要特征的遗传异质性疾病，其临床表现包括夜盲、视力下降、进行性视野缺失等，且视网膜电图异常。目前已发现众多与RP相关的基因缺陷，其导致RP患者的视杆细胞功能逐步丧失，随即视锥细胞感光功能出现障碍，最终完全失明。RP的致盲率较高，而临床目前尚无有效的治疗方法。近年来随着生物分子学技术的进步，针对RP治疗方法的研究取得较大进展。本文在阐述RP发病机制的基础上，对与RP治疗策略相关的研究进展进行综述。
Retinitis pigmentosa （RP） is a genetically heterogeneous group of hereditary retinal disorders characterized by photoreceptor cell death, associated with night blindness, vision loss, progressive peripheral visual field loss and abnormalities in the electroretinogram. A number of gene defects have so far been associated with RP, which cause a progressive loss of rod photoreceptor function, followed by cone photoreceptor dysfunction and eventually complete blindness. The rate of blindness related to RP is high. At present there is no effective therapeutic strategy for RP. In recent years, with the progress of molecular biology technique, many new therapeutic approaches have become promising. This article summarizes the pathogenesis of RP and gives a brief overview of related research progress of RP therapeutic strategies.
出处
《中华眼科杂志》
CAS
CSCD
北大核心
2017年第2期148-153,共6页
Chinese Journal of Ophthalmology
