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对于视网膜母细胞瘤(Retinoblastoma,Rb)患者的双亲及血缘近亲都应散瞳检查眼底,有阳性家族史的亲属更应如此。有可能在他(她)们的眼底发现视网膜萎缩瘢痕(Retinal Scars,RS)或静止的半透明隆起。这两种眼底改变分别表示Rb 的退行性变和Rb 的良性表现,即视网膜细胞瘤(Retinocy-toma,Rc)。虽然两者在临床及病理上有很大差别,但在遗传机制上有共同之处,即表明有这两种眼底改变的人均发生Rb 基因突变,或他们携带了突变Rb 基因。他们向后代遗传Rb 的危险率从4%增加
For retinoblastoma (Retinoblastoma, Rb) patients with both parents and blood relatives should dilated eye examination, relatives of positive family history should be more so. It is possible to find retinal atrophy scars (RS) or resting translucent hems in the eyes of his or her eyes. These two fundus changes indicate the degenerative changes of Rb and the benign appearance of Rb, namely Retinocytoma (Rc). Although both have very different clinical and pathological features, there are common genetic mechanisms that indicate that Rb mutations occur in either of the two fundus types or that they carry the mutant Rb gene. Their risk of transmitting genetic Rb to their offspring has increased from 4%