视网膜色素变性的诊断和治疗进展  

Progress in diagnosis and treatment of retinitis pigmentosa

作　　者：刘红丽 吴继红 Liu Hongli;Wu Jihong(Department of Ophthalmology,Affiliated Ophthalmology and Otolaryngology Hospital of Fudan University,Shanghai 200031,China)

机构地区：[1]复旦大学附属眼耳鼻喉科医院眼科,上海200031

出　　处：《中华眼底病杂志》2021年第11期896-900,共5页Chinese Journal of Ocular Fundus Diseases

基　　金：国家自然科学基金(81770925、81790641);上海市优秀学术/技术带头人计划(20XD1401100);上海市医学领军人才项目(2019LJ01);上海市科技重大项目(2018SHZDZX05)。

摘　　要：视网膜色素变性(RP)是以视网膜光感受器细胞和视网膜色素上皮细胞受损为主要特征的遗传性视网膜疾病,其主要临床特征包括视力下降伴夜盲、进行性视野缺损、视网膜电图异常等。随着四代基因测序和精准诊疗的发展,RP的诊断和治疗方式也逐年更新,包括基因治疗、干细胞治疗及光遗传学疗法等。但将上述治疗方式从实验室技术转化为有效的临床治疗药物,还存在着不小的鸿沟。如免疫反应、潜在的导致插入的区域诱变和肿瘤发生、遗传毒性、基因技术和干细胞技术的质量和稳定性、临床级别药物的大量生产和推广以及药物和手术的有效性优化等等,都有待研究者们进一步解决。Retinitis pigmentosa is a hereditary disease which is characterized by damage in retinal photoreceptor cells and retinal pigment epithelium.Its main clinical features include low vision with night blindness,progressive visual field defects,and abnormal electroretinograms.The development of gene sequencing,the diagnosis and treatment methods of retinitis pigmentosa update year by year,including gene therapy,stem cell therapy,optogenetic therapy,etc.However,there is still a big gap in these treatments from laboratory technology into effective clinical treatment drugs.Some problems which include immune response,potential mutagenesis and tumorigenesis of the inserted region,genetic toxicity,quality and stability of gene technology and stem cell technology,mass production and promotion of clinical grade drugs,and optimization of the effectiveness of drugs and surgery,etc,remain to be solved by researchers.

关 键 词：色素性视网膜炎 基因疗法 综述 

分 类 号：R774.13[医药卫生—眼科]