视网膜细胞瘤临床特征分析

Clinical features of patients with retinocytoma

目的:分析视网膜细胞瘤眼底表现等临床特征。方法:回顾性系列病例研究。收集复旦大学附属眼耳鼻喉科医院眼科2006年1月至2019年12月收治的10例(12只眼)临床确诊为视网膜细胞瘤患者,整理记录临床资料,包括性别、年龄、首发症状及分析瘤体大小、位置,眼底表现,退化类型等。结果:10例患者中男性7例,女性3例;确诊年龄5~39岁,中位数为14岁;单眼发病8例,累及双眼2例。最常见首发症状为斜视4例,其余为视力差、眼前黑影或遮挡、体检发现异常。瘤体平均最大基底径为5.70 mm(范围2.69~8.69 mm),平均厚度为2.28 mm(范围0.61~3.76 mm)。12只眼均为单灶瘤体,后极部瘤体5个,中周部瘤体5个,周边部瘤体2个。眼底表现:10个瘤体为半透明视网膜占位病变,11个瘤体内含有钙化团,12个瘤体周围均伴边界明显的视网膜色素上皮改变,6个瘤体伴脉络膜萎缩改变。退化类型:1型瘤体2个,2型瘤体1个,3型瘤体9个,无4型瘤体。1例患者对侧眼合并视网膜母细胞瘤,基因检测提示RB1基因突变。平均随访28.7个月,所有患者瘤体均稳定,无恶性转化表现。结论:视网膜细胞瘤是临床较少见的良性视网膜肿瘤,具有半透明视网膜占位病变等特征性眼底表现,应予以定期随访。

Objective To analyze the clinical features and fundus performance of patients with retinocytoma.Methods Retrospective case series study.Ten patients(12 eyes)diagnosed with retinocytoma were enrolled in Department of Ophthalmology of Eye&ENT Hospital of Fudan University from January 2006 to December 2019.Clinical data were reviewed,including gender,age,initial symptoms,tumor size and location,fundus manifestations and regression patterns.Results There were 7 males and 3 females aged from 5 to 39 years,with a median age of 14 years.Eight patients had unilateral retinocytoma,while 2 patients had bilateral retinocytoma.The most common complaints were strabismus(4 patients)and blurred vision(3 patients).The average maximum base diameter of the tumor was 5.70 mm(2.69 to 8.69 mm),and the average thickness was 2.28 mm(0.61 to 3.76 mm).Tumors in 12 eyes were all of a single focus,5 in the posterior pole,5 in the midperiphery and 2 in the periphery.Ophthalmoscopic features of retinocytoma included a translucent retinal mass in 10 eyes,a calcification mass in 11 eyes,with well-defined retinal pigment epithelial alteration in 12 eyes and a zone of chorioretinal atrophy in 6 eyes.The regression patterns were type 1 in 2 eyes,type 2 in 1 eye and type 3 in 9 eyes.The gene test showed RB1 mutation in 1 patient.During the average follow-up of 28.7 months,all of the tumors were stable without malignant transformation.Conclusions Retinocytoma is a rare benign retinal tumor with characteristic fundus manifestations.Patients with retinocytoma should be monitored closely.