Gallie B L, Phillips R A, Ellsworth R M, Abramson D H
Ophthalmology. 1982 Dec;89(12):1393-9. doi: 10.1016/s0161-6420(82)34622-9.
Genetic counseling of retinoblastoma (RB) patients and their families is difficult and inaccurate. The data in this paper show that two ocular lesions, retinoma and phthisis bulbi, are associated with RB and can be useful in diagnosis and counseling. Phthisis bulbi is the end result of many conditions and can only be linked to RB if other evidence is present. Retinomas, on the other hand, have three distinctive clinical characteristics (irregular translucent retinal mass, calcification, and pigment epithelial disturbance) and quite accurately predict the presence of the RB gene. Recognition of the significance of retinoma and phthisis bulbi with respect to the RB gene is critical in genetic counseling. Of 34 individuals studied, 32 with retinoma and five with phthisis bulbi, two thirds had a family history of RB or RB in the other eye, and 23/37 of their offspring developed RB. The clinical course of RB in the six children known to be at risk on the basis of detection of the gene in the parent was significantly better than in 17 children that were symptomatic at the time of diagnosis.
视网膜母细胞瘤（RB）患者及其家属的遗传咨询既困难又不准确。本文数据表明，视网膜瘤和眼球痨这两种眼部病变与RB相关，可用于诊断和咨询。眼球痨是多种病症的最终结果，只有在有其他证据时才能与RB联系起来。另一方面，视网膜瘤具有三个独特的临床特征（不规则半透明视网膜肿块、钙化和色素上皮紊乱），并能相当准确地预测RB基因的存在。认识到视网膜瘤和眼球痨与RB基因的关系在遗传咨询中至关重要。在研究的34人中，32人患有视网膜瘤，5人患有眼球痨，其中三分之二有RB家族史或另一只眼患有RB，他们的后代中有23/37患了RB。已知因父母基因检测而有患病风险的6名儿童中RB的临床病程明显好于诊断时有症状的17名儿童。
