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为了对视网膜母细胞瘤（RB）的遗传研究和遗传咨询。本文对1960～1995年临床病理确诊的RB183例进行家系调查，其中家族遗传性RB13例，分布于11个家系中，家族性RB的发病率为7．1％。遗传方式以隐性嵌合体型最多见，有10个家系，占90.91％，其次为直接遗传1个家系，占9.09％。随访到单眼散发性RB患者的后代14人，除2人因腹泻死亡外，其余经检查未发现RB病变。并讨论了家族遗传性RB的发病率、临床特点及遗传咨询问题。
For the genetic and genetic counseling of retinoblastoma (RB). In this article, 183 cases of RB confirmed by clinical pathology from 1960 to 1995 were investigated. Among them, 13 cases of familial hereditary RB were distributed in 11 families. The incidence of familial RB was 7.1%. The hereditary pattern was the most common with recessive chimerism, with 10 families (90.91%), followed by direct inheritance of 1 family, accounting for 9.09%. Fourteen of the descendants of unilateral sporadic RB patients were followed up. Except for 2 deaths due to diarrhea, no RB lesions were found after examination. The incidence, clinical features, and genetic counseling of hereditary RB were discussed.