18例儿童结节性硬化症的眼部表现及特点分析  

Ocular manifestations and characteristics of children tuberous sclerosis: 18 cases report

作　　者：苏学刚 王旭[2] 冷非[3] 李莉[3] 白大勇[3] SU Xue-gang;WANG Xu;LENG Fei;LI Li;BAI Da-yong(Department of Ophthalmology,Shunyi Matarnal and Child Health Hospital,Beijing 101300,China;Department of Neurology,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,Chino;Department of Ophthalmology,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China)

机构地区：[1]北京市顺义区妇幼保健院北京儿童医院顺义妇儿医院眼科,101300 [2]首都医科大学附属北京儿童医院神经内科,100045 [3]首都医科大学附属北京儿童医院眼科,100045

出　　处：《眼科》2019年第1期56-60,共5页Ophthalmology in China

摘　　要：目的探讨儿童结节性硬化症(tuberous sclerosis complex,TSC)的眼部表现特点。设计回顾性病例系列。研究对象 18例儿童TSC患者。方法回顾分析患者的临床资料。包括眼底照相、红外眼底照相、相干光断层扫描(OCT)及TSC1/TSC2基因检测资料。主要指标外眼、眼前节、眼底影像所见。结果 TSC患者年龄(7.12±3.33)岁。其中5例(27.8%)眼睑纤维瘤,2例(11.1%)眼睑皮肤脱色素斑,2例(11.1%)白色不规则虹膜结节,1例(5.6%)虹膜白色沉积物。11例患者(22眼)OCT发现39个视网膜错构瘤,红外眼底照相发现28个,彩色眼底照相发现13个。11例患者中存在TSC2基因突变9例,其中2例为新发现的突变。结论 TSC患儿除了眼睑及虹膜受累外,视网膜错构瘤更多见。OCT较眼底照相对早期视网膜错构瘤的检出率更高。Objective To investigate the ophthalmic features of children with tuberous sclerosis(TSC).Design Retrospective case series.Participants 18 cases of children with TSC.Methods The clinical data of TSC children including fundus photography,infrared fundus photography,coherent optical tomography(OCT)and TSC1/TSC2 gene detection data were retrospectively analyzed.Main Outcome Measures Imaging findings of the external eye,anterior segment and fundus.Results The average age of TSC patients was 7.12±3.33 years.There were 5 cases(27.8%)of eyelid fibroma,2 cases(11.1%)of eyelid skin depigmentation,2 cases(11.1%)of white irregular iris nodules and 1 case(5.6%)of white iris deposits.39,28,13 hamartomas were respectively found with OCT,infrared fundus photography and color fundus photography in 11 cases(22 eyes)of TSC.There were 9 TSC2 gene mutations in 11 patients,2 of which were newly discovered mutations.Conclusion In addition to eyelid and iris involvement,retinal hamartoma is more common in children with TSC.OCT has a higher detection rate of early retinal hamartoma than fundus photography.

关 键 词：结节性硬化症 视网膜错构瘤 

分 类 号：R725.9[医药卫生—儿科]