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通过对86例视网膜母细胞瘤(Rb)的临床表现与发病特点的分析,提出在 Rb 诊断中应注意的问题:1)统计的 Rb 症状年龄平均为21.75月,诊断年龄平均为24.32月,故对3岁以下白瞳症者应密切注意,但不应忽视 Rb 亦可能发生于成年:2)Rb 的第一症状多为白瞳,但也要注意无白瞳及无症状眼发生 Rb 的可能,于本组,这种情况为26/105眼;3)良性 Rb 或 Rb 自行性退变如眼球萎缩或视网膜细胞瘤应当引起重视,本组86例中发现4例视网膜细胞瘤;4)应当注意 Rb 患者的全身性异常及第二原发性肿瘤的存在:5)遗传学的家系调查,双生子法和实验室研究如染色体分析、酯酶 D 及乳酸脱氢酶测定,DNA 限制性片段长度多态性技术等,对 Rb 的产前诊断、早期诊断及携带者测定,均有意义。
Through the analysis of 86 cases of retinoblastoma (Rb) clinical features and characteristics of the disease, proposed in the diagnosis of Rb should pay attention to the problem: 1) The statistical average age of Rb symptoms was 21. 75 months, the average age of diagnosis was 24.32 months, so White pupil of patients under the age of 3 should pay close attention to, but should not be ignored Rb may also occur in adulthood: 2) the first symptoms of Rb mostly white pupil, but also pay attention to no white pupil and asymptomatic eye Rb may occur , In this group, this situation is 26/105 eyes; 3) benign Rb or Rb autonomic degeneration such as atrophy or retinoblastoma should pay attention to this group of 86 cases found in 4 cases of retinoblastoma; 4) should Pay attention to the generalized abnormalities in Rb and the presence of a second primary tumor: 5) Genetic pedigree investigations, twin studies and laboratory studies such as chromosomal analysis, esterase D and lactate dehydrogenase assays, DNA restriction fragments Length polymorphism technology, etc., on prenatal diagnosis of Rb, early diagnosis and carrier determination, are of significance.