目的:报告1例弥漫性浸润性视网膜母细胞瘤,因其非典型性临床表现而诊断受到极大挑战。方法:患者为1例10岁男孩,患有白内障及术后眼部炎症,最终确诊为弥漫性浸润性视网膜母细胞瘤。结果:患者行假性特征,诊断方法,手术处理,组织病理学检查。对该病例中房水细胞的细胞学研究确定了诊断结果,而放射显像诊断具有有限的诊断价值。结论:该病例突显了弥漫性浸润性视网膜母细胞瘤的诊断难度,眼科医生应该认识到弥漫性浸润性视网膜母细胞瘤的非典型性临床表现,同时在处理其它相似病例时应特别注意。

AIM:To report a case of diffuse infiltrating retinoblastoma that proved to be diagnostic challenge because of its atypical presentation. METHODS:We described a 10 years old boy presented with cataract and features of ocular inflammation post-operatively, and was finally diagnosed as diffuse infiltrating retinoblastoma.RESULTS:The masquerading features, diagnostic approach, surgical management and histopathology findings were presented. In this case, cytology study of aqueous humor cells confirmed the diagnosis while radioimaging demonstrated a limited diagnostic value.CONCLUSION:The case highlights the diagnostic challenge of diffuse infiltrating retinoblastoma. Ophthalmologist should be aware of the atypical presentation of diffuse infiltrating retinoblastoma and must be vigilant in managing similar cases.