Institute of Visual Neuroscience and Stem Cell Engineering, College of Life Sciences and Health, Wuhan University of Science and Technology, Wuhan 430065, China.
Int J Mol Sci. 2022 Apr 28;23(9):4883. doi: 10.3390/ijms23094883.
Retinitis pigmentosa (RP) is genetically heterogeneous retinopathy caused by photoreceptor cell death and retinal pigment epithelial atrophy that eventually results in blindness in bilateral eyes. Various photoreceptor cell death types and pathological phenotypic changes that have been disclosed in RP demand in-depth research of its pathogenic mechanism that may account for inter-patient heterogeneous responses to mainstream drug treatment. As the primary method for studying the genetic characteristics of RP, molecular biology has been widely used in disease diagnosis and clinical trials. Current technology iterations, such as gene therapy, stem cell therapy, and optogenetics, are advancing towards precise diagnosis and clinical applications. Specifically, technologies, such as effective delivery vectors, CRISPR/Cas9 technology, and iPSC-based cell transplantation, hasten the pace of personalized precision medicine in RP. The combination of conventional therapy and state-of-the-art medication is promising in revolutionizing RP treatment strategies. This article provides an overview of the latest research on the pathogenesis, diagnosis, and treatment of retinitis pigmentosa, aiming for a convenient reference of what has been achieved so far.
色素性视网膜炎（RP）是一种由感光细胞死亡和视网膜色素上皮萎缩引起的遗传异质性视网膜病变，最终导致双眼失明。RP 中已经揭示的各种感光细胞死亡类型和病理表型变化，需要深入研究其发病机制，这可能解释了患者对主流药物治疗的异质反应。作为研究 RP 遗传特征的主要方法，分子生物学已广泛应用于疾病诊断和临床试验。目前的技术迭代，如基因治疗、干细胞治疗和光遗传学，正在朝着精确诊断和临床应用的方向发展。具体来说，有效的递送载体、CRISPR/Cas9 技术和基于 iPSC 的细胞移植等技术，加速了 RP 个性化精准医学的步伐。传统疗法与最先进药物的结合有望彻底改变 RP 的治疗策略。本文概述了色素性视网膜炎发病机制、诊断和治疗的最新研究进展，旨在为目前取得的成果提供一个方便的参考。
