视网膜母细胞瘤是儿童易患的遗传性眼内恶性肿瘤,占我国眼内恶性肿瘤的第一位,占我国儿童死亡率的1%。为保护儿童的身心健康,提倡优生,开展对视网膜母细胞瘤遗传学以及遗传咨询的研究就显得十分必要。一、视网膜母细胞瘤的发病情况视网膜母细胞瘤的发病率世界各地报告不一,从1:6,089至1:34,000不等。Yanguas(1987年)报告哥伦比亚的发病率是1:6,098,Macklin(1959年)报告 Retinoblastoma is a genetic predisposition to intraocular malignant tumors in children, accounting for the first in China’s intraocular malignant tumors, accounting for 1% of China’s child mortality rate. In order to protect children’s physical and mental health, promote eugenics, carry out the genetics of retinoblastoma and genetic counseling research is very necessary. First, the incidence of retinoblastoma Retinoblastoma incidence rates reported around the world vary from 1: 6,089 to 1: 34,000 range. Yanguas (1987) reports a 1: 6,098 incidence in Colombia and Macklin (1959) reports