视网膜母细胞瘤(Rb)是一种常见于婴幼儿的眼部恶性肿瘤,可分为遗传型和非遗传型两类。遗传型特点是在早年发病,且为双侧多发性病灶,按常染色体显性遗传方式传递,外显率为90％;非遗传型发病较迟,通常为单侧性,但仍有约15％的单侧患者是遗传型。近年来,由于分子遗传学和基因工程研究的进步,在Rb基因结构,基因诊断,发病 Retinoblastoma (Rb) is a common ocular malignancy in infants and young children, can be divided into two types of genetic and non-genetic. Genetics is characterized by early onset, and is a bilateral multiple lesions, transmitted by autosomal dominant inheritance, penetrance was 90%; non-genetic type of onset later, usually unilateral, but there are still about 15 % Of unilateral patients are inherited. In recent years, due to advances in molecular genetics and genetic engineering research, Rb gene structure, gene diagnosis, pathogenesis