摘要目的:观察分析筛查发现的无症状视网膜母细胞瘤（RB）患儿的临床特征、治疗及预后。方法:回顾性系列病例研究。2006年1月至2019年3月于复旦大学附属眼耳鼻喉科医院眼科确诊的无症状RB患儿8例11只眼纳入研究。其中，男性6例，女性2例；确诊年龄2 d~20个月，中位数确诊年龄6个月；单眼5例，双眼3例。国际眼内RB分期，A期、B期、C期分别为4、3、4只眼。有RB家族史1例。行Rb1基因检测4例。8例患儿的16名父母及3名兄弟姐妹均行常规眼部检查及超广角眼底照相检查。全身静脉化学药物治疗（IVC）采用卡铂、长春新碱和依托泊苷联合方案；眼动脉灌注化学药物治疗（IAC）采用马法兰和卡铂；眼局部治疗包括冷冻和经瞳孔温热疗法（TTT ）。平均随访时间47.25个月。结果:8例患儿均无任何眼部症状。行IVC 5~6次者6例，IAC 3次者1例，仅眼局部治疗者1例。11只眼中，行眼局部冷冻治疗9只眼，TTT治疗8只眼。随访中发现新瘤体2例，发现新瘤体时间为化疗结束后平均6.3个月。末次随访时，瘤体消退11只眼，稳定11只眼；无眼球摘除者，保眼率100% （8/8 ）。最佳矫正视力0.1、1.0者分别为3、5只眼；未查及者3只眼。行Rb1基因检测的4例患儿中，未检测到明确致病变异3例，检测到Rb1基因1c.35_69del(p.T12fs）杂合突变1例。16名父母中，双眼眼球痨1名，为双眼RB患儿的母亲。3名兄弟姐妹中，双眼RB 1例，为双眼RB患儿的哥哥。结论:眼部筛查有助于发现早期RB，经IVC、IAC等全身或局部化学药物治疗及冷冻、TTT等眼局部治疗后保眼率高，长期视力预后较好。

abstractsObjective:To analyze the clinical features, treatment and prognosis of asymptomatic patients with retinoblastoma.Methods:A retrospective series of case study. Eight asymptomatic patients (11 eyes) with the diagnosis of retinoblastoma by screening enrolled in Department of Ophthalmology of The Eye-ENT Hospital of Fudan University from January 2006 to March 2019 were included. There were 6 males and 3 females ranging from 2 days to 20 months, with a median age of 6 months. Five patients were unilateral retinoblastoma while 3 patients were bilateral. Based on the International Classification of Intraocular Retinoblastoma, 4 eyes were stage A, 3 eyes were stage B and 4 eyes were stage C. One patient had family history. Four patients were evaluated the Rb1 mutation. Routine ophthalmic examinations and ultra-wide field fundus imaging were performed on the 16 parents and 3 siblings of the 8 patients. Systemic intravenous chemotherapy was performed using the Carboplatin, Vincristine, Etoposide protocol, intra-arterial chemotherapy using Carboplatin and Melphalan, and local treatment involved cryotherapy and transpupillary thermotherapy. The mean follow-up time is 47.25 months.Results:None of the 8 children had any ocular symptoms. Six patients received intravenous chemotherapy (5-6 times), 1 patient received intra-arterial chemotherapy (3 times), and 1 patient just received local treatment. Among the 11 eyes, 9 eyes were treated with local cryotherapy and 8 eyes were treated with transpupillary thermotherapy. During the follow-up period, 2 patients had new tumor, and the average time was 6.3 months after the last chemotherapy. At the last follow-up, the tumor disappeared in 11 eyes, remained stable in 11 eyes. The eye protection rate was 100% (8/8) for patients without eyeball excision. The best corrected visual acuity was 0.1 for 3 eyes and 1.0 for 5 eyes. Three eyes were not found. One heterozygous mutation of Rb1 gene [1c.35_69del (p.T12fs)] was identified in 1 patient, and the other 3 patients were not detected. One had bilateral bulbar tuberculosis of the 16 parents, 1 had bilateral RB of the 3 siblings. They were the mother and brother of a child with bilateral RB.Conclusions:Fundus screening is helpful for the detection of early RB. The eye protection rate is high and the long-term vision prognosis is good after systemic or topical chemical drugs (IVC, IAC) and ocular topical treatment (cryopreservation and transpupillary thermotherapy).