François J
Adv Ophthalmol. 1979;39:181-209.
(1) The incidence of retinoblastoma is 1/20,000. (2) About 94% of all retinoblastoma cases are sporadic, while 6% are familial. (3) The hereditary retinoblastomas, whether sporadic or familial, represent 40% of all cases. (4) A new dominant germinal mutation is responsible for 100% of the bilateral sporadic cases and for 10-15% of the unilateral sporadic cases. (5) Knudson's multistage mutation is the best explanation of retinoblastoma's behaviour. (6) A deletion of the long arm of a D-chromosome (13q14) may be the cause of some, if not of all retinoblastomas. (7) The main difficulty in genetic counseling is the lack of means for identifying which sporadic unilateral retinoblastomas are due to a new germinal mutation.
(1) 视网膜母细胞瘤的发病率为1/20000。(2) 所有视网膜母细胞瘤病例中约94%为散发性，6%为家族性。(3) 遗传性视网膜母细胞瘤，无论散发性还是家族性，占所有病例的40%。(4) 新的显性生殖细胞突变导致100%的双侧散发性病例和10 - 15%的单侧散发性病例。(5) 克努森的多阶段突变是对视网膜母细胞瘤行为的最佳解释。(6) D组染色体长臂（13q14）的缺失可能是部分（如果不是全部）视网膜母细胞瘤的病因。(7) 遗传咨询的主要困难在于缺乏手段来识别哪些散发性单侧视网膜母细胞瘤是由新的生殖细胞突变引起的。
