[1]陈春丽,赵培泉,李筱荣.家族性渗出性玻璃体视网膜病变（FEVR）患者临床表现的多样性及基因特点[J].眼科新进展,2020,40(6):538-541.[doi:10.13389/j.cnki.rao.2020.0123]
　CHEN Chunli,ZHAO Peiquan,LI Xiaorong.Diversity of clinical manifestations and genetic characteristics of patients with familial exudative vitreoretinopathy[J].Recent Advances in Ophthalmology,2020,40(6):538-541.[doi:10.13389/j.cnki.rao.2020.0123]
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家族性渗出性玻璃体视网膜病变（FEVR）患者临床表现的多样性及基因特点/HTML
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《眼科新进展》[ISSN:1003-5141/CN:41-1105/R]

卷:
40卷
期数:
2020年6期
页码:
538-541
栏目:
应用研究
出版日期:
2020-06-05

文章信息/Info

Title:
Diversity of clinical manifestations and genetic characteristics of patients with familial exudative vitreoretinopathy
作者:
陈春丽; 赵培泉; 李筱荣
300000　天津市，天津医科大学眼科医院，眼视光学院，眼科研究所（陈春丽,李筱荣）；257000　山东省东营市,胜利油田中心医院眼科（陈春丽）；200092　上海市，上海交通大学医学院附属新华医院眼科（赵培泉）
Author(s):
CHEN Chunli1; 2; ZHAO Peiquan3; LI Xiaorong1
1.Department of Ophthalmology,Eye Institute and School of Optometry,Tianjin Medical University Eye Hospital,Tianjin 300000,China
2.Department of Ophthalmology,Shengli Oilfield Central Hospital,Dongying 257000,Shandong Province,China
3.Department of Ophthalmology,Xinhua Hospital,Affiliated to Medicine School of Shanghai Jiaotong University,Shanghai 200092,China
关键词:
家族性渗出性玻璃体视网膜病变; 临床表现; 基因位点; 多样性
Keywords:
familial exudative vitreoretinopathy;  clinical manifestation;  gene site;  diversity
分类号:
R774.1
DOI:
10.13389/j.cnki.rao.2020.0123
文献标志码:
A
摘要:
目的　探讨家族性渗出性玻璃体视网膜病变（FEVR）患者临床表现的多样性及基因特点。方法　收集自2010年1月至2018年12月间诊断为FEVR 976例患者的病史、临床表现及基因检测资料信息。依据患者及其父母的眼底表现进行分类，分析FEVR患者及其父母的临床表现及眼底特征。探讨患者与父母眼底表现的相同点和差异性；对比每类表现患者不同基因突变情况。结果　本研究中伴有其他眼部异常表现的FEVR患者共有43例（4.4%，43/976），其中有早产史患儿17例，视网膜色素变性3例，牵牛花综合征3例，反向Drag-Disc病变4例，上睑下垂3例，黄斑前膜2例，脉络膜新生血管2例，Coats-like患者2例，永存原始玻璃体增生症1例，脉络膜缺损1例，小视盘1例，视盘血管炎1例，外伤性玻璃体积血1例，类眼眶蜂窝织炎1例，类葡萄膜炎反应1例。43例患者中有28例患者经基因检测确诊FEVR，其中LRP5基因突变位点16个，TSPAN12基因突变位点4个，KIF11基因突变位点3个，ZNF408基因突变位点3个，NDP基因突变位点2个，FZD4基因突变位点2个。有3例患者父母双方基因突变均阳性，1例父母均有ZNF408基因突变，1例父母均有LRP5基因突变，1例父母分别为NDP及ZNF408基因突变，还有1例为母源的LRP5双位点基因突变，未检测到FEVR相关基因变异15例。最常见FEVR基因突变位点为LRP5，占53.3%。结论　FEVR患者的临床表现和并发症具有多样性；LRP5为FEVR基因突变最常见位点。
Abstract:
Objective　To explore the diverse clinical manifestations and genetic characteristics of patients with familial exudative vitreoretinopathy (FEVR). Methods　The medical history, clinical manifestations and gene detection data were collected from 976 patients diagnosed with FEVR from January 2010 to December 2018. According to the fundus manifestations of the patients and their parents, the clinical manifestations and fundus characteristics of FEVR patients and their parents were analyzed. The similarities and differences of fundus manifestations were analyzed and evaluated between patients and their parents, and the different gene mutations were compared for each type of patients. Results　There were 43 FEVR patients with other ocular abnormalities (4.4%, 43/976), including 17 cases with preterm delivery, 3 cases with retinitis pigmentosa, 3 cases with morning glory syndrome, 4 cases with reverse Drag-Disc disease, 3 cases with ptosis, 2 cases with epimacular membrane, 2 cases with choroidal neovascularization, 2 cases with Coats-like disease, 1 case with persistent primary vitreous hyperplasia, 1 case with coloboma of choroid, 1 case with small optic disc, 1 case with optic disc vasculitis, 1 case with traumatic vitreous hemorrhage, 1 case with orbital cellulitis, and 1 case with uveitis. Among the 43 patients, 28 patients were diagnosed with FEVR by gene detection, including 16 mutation sites in LRP5 gene, 4 mutation sites in TSPAN12 gene, 3 mutation sites in KIF11 gene, 3 mutation sites in ZNF408 gene, 2 mutation sites in NDP gene and 2 mutation sites in FZD4 gene. Both parents had positive gene mutations for three patients, respectively ZNF408 gene mutation for parents of one case, LRP5 gene mutation for parents of another case, and NDP and ZNF408 gene mutation for parents of the last one case. There were 15 cases without detection of FEVR related gene mutation. The most common mutation site of FEVR gene was LRP5, accounting for 53.3%.Conclusion　The clinical manifestations and complications of FEVR patients are diverse, and LRP5 is the most common site of FEVR gene mutation.

参考文献/References:

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备注/Memo

备注/Memo:
国家自然科学基金资助（编号:81870675）
更新日期/Last Update: 2020-06-05