家族性渗出性玻璃体视网膜病变误漏诊病例分析  

Analysis of misdiagnosed and missed diagnosis of familial exudative vitreoretinopathy

作　　者：张婧[1] 邓光达 赵琦 卢海 ZHANG Jing;DENG Guang-da;ZHAO Qi;LU Hai(Department of Ophthalmology, Beijing Puren Hospital, Beijing 100062, China;Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Key Laboratory of Ophthalmology and Visual Science, Beijing 100730, China)

机构地区：[1]北京市普仁医院眼科,100062 [2]首都医科大学附属北京同仁医院,北京同仁眼科中心,眼科学与视觉科学北京市重点实验室,100730

出　　处：《眼科》2019年第5期354-358,共5页Ophthalmology in China

摘　　要：目的总结家族性渗出性玻璃体视网膜病变(FEVR)常见误诊、漏诊原因及病例特点。设计回顾性病例系列。研究对象 2017年2月至2018年8月在北京同仁医院就诊,曾被误诊和漏诊的FEVR患者28例(55眼),患者家庭25组(含父亲和母亲共50例)。方法总结患者症状、眼部体征和检查结果,分析被漏、误诊原因,总结FEVR家族史特点。主要指标患者症状、裂隙灯检查、眼底情况及荧光素眼底血管造影(FFA)、眼部彩超,患儿父、母眼底FFA和家族史资料。结果 28例FEVR患者,一例单眼发病,其余双眼发病,共55眼,双眼病变不对称20例(71.43%),有斜视表现18例(64.29%),眼底豹纹状改变 35眼(63.64%),合并白内障 30眼(54.54%)。FEVR眼底及FFA有特征性表现,病变各期均可误诊及漏诊;婴幼儿期FEVR常见被误漏诊疾病有:先天性白内障(2例)、永存原始玻璃体增生症(14例)、青光眼(3例)和斜视(4例);青少年期易误漏诊疾病:高度近视、弱视(4例)、孔源性视网膜脱离(3例)。FEVR家族史:共25例患者的父母FFA确定FEVR阳性家庭12组(48.0%)。结论 FEVR眼底表现多种多样,对患有白内障、青光眼、玻璃体异常、斜视等疾病者要考虑到FEVR可能,对家族史阴性的患者避免漏诊。Objective To summarize the characteristics of clinically missed or misdiagnosed patients with familial exudative vitreoretinopathy (FEVR). Design A retrospective case analysis. Participants 28 cases with FEVR (55 eyes) presented to Beijing Tongren Hospital from February 2017 to August 2018 who had been misdiagnosed previously and 25 families of these cases (50 persons including father and mother). Methods We summarized the symptoms, the ocular characteristics and the examination results of these patients. The causes of misdiagnosis were analyzed, and the characteristics of the family history of these cases were summarized. Main Outcome Measures Clinical symptoms, signs under slit-lamp microscope and funduscopy, fundus fluorescence angiography (FFA) and color Doppler ultrasound. The data of the parents' FFA and the family history. Results Of the 28 FEVR patients in this study, 1 patient was involved unilaterally and the others were involved bilaterally. 20 cases (71.43%) had bilateral asymmetric disease stage. 18 cases presented (64.29%) with strabismus. 35 eyes (63.64%) had leopard-like fundus, and 30 eyes (54.54%) had cataract. The fundus and FFA in FEVR are characteristic. Each stage of FEVR can be misdiagnosed and missed. Some common misdiagnosed diseases in early childhood were as following: congenital cataract (2 cases), persistent hyperplastic primary vitreous (14 cases), glaucoma(3 cases), strabismus(4 cases). The common missed diseases in teenagers included high myopia and amblyopia(4 cases) and rhegmatogenous retinal detachment(3 cases). A total of 25 families were examined with FFA, in which father or mother were positive in 12 families, with a positive rate of 12/25 (48%). Conclusion FEVR with various forms of presentation can be easily misdiagnosed. The children and teenagers with cataract, anomalies of vitreous, glaucoma, strabismus should be considered the possibility of FEVR, even without a FEVR family history.

关 键 词：家族性渗出性玻璃体视网膜病变 误诊 漏诊 

分 类 号：R774.1[医药卫生—眼科]