摘要采用基因检测方式对视网膜母细胞瘤(RB)患者及其家庭成员进行筛查和遗传咨询十分必要,其不仅可指导临床治疗、随访,预测其同胞亲属及子女的患病风险,还可借助产前诊断技术,降低RB患儿的出生率,提高人口素质,减轻RB患者家庭的心理负担和经济负担,节省大量医疗资源.在欧美发达国家,对RB先证者进行基因检测已成为临床常规工作.在我国,目前RB患者的生存率明显提高,但基因诊断工作尚处于起步阶段.本文重点阐述基因检测在RB诊疗中的重要意义,回顾我国基因检测的现状,希望临床医师能重视RB遗传学及表观遗传学的特点,积极遵循临床操作规范,广泛开展工作,以推动我国遗传病基因检测和治疗的基础和临床研究,争取实现精准医疗.

abstractsRetinoblastoma, the most frequent malignant intraocular tumor in childhood, is caused by oncogenic mutations in the RB1 tumor suppressor gene. Identification of these mutations in patients is important for genetic counseling and clinical management of relatives at risk, and thus probands are conventionally applied gene detection in developed countries. However, gene diagnosis is still in the elementary period in China. This article reviews the characteristics of retinoblastoma genetics and the current status of genetic testing in China, so as to attract more attention from ophthalmologists and to promote regulated gene diagnosis in clinical work. Not only does good understanding of retinoblastoma genetics support optimal care for retinoblastoma children and their families, but also promotes the development in foundational research.