婴幼儿色素失禁症相关眼部病变的临床特征分析  

Clinical features of ocular anomalies in infants with incontinentia pigmenti

作　　者：王亮 李曼红 张自峰 严宏祥 武雷 周毅 樊静 苟凯丽 王雨生 Wang Liang;Li Manhong;Zhang Zifeng;Yan Hongxiang;Wu Lei;Zhou Yi;Fan Jing;Gou Kaili;Wang Yusheng(Department of Ophthalmology,Eye Institute of Chinese PLA,Xijing Hospital,Fourth Military Medical University,Xi'an 710032,China)

机构地区：[1]空军军医大学西京医院眼科,全军眼科研究所,西安710032

出　　处：《中华实验眼科杂志》2021年第1期34-41,共8页Chinese Journal Of Experimental Ophthalmology

基　　金：国家自然科学基金项目(81770936);西京医院学科助推计划项目(XJZT18ML21)。

摘　　要：目的探讨色素失禁症(IP)患儿眼部病变的临床特征。方法采用系列病例观察研究设计,对2013年1月至2019年12月于西京医院眼科就诊的13例IP患儿的临床资料进行回顾性分析。所有患儿均接受常规眼部检查,3例患儿接受荧光素眼底血管造影,5例6眼根据病情接受视网膜激光光凝术或抗血管内皮生长因子(VEGF)药物玻璃体腔注射。随访6个月~6年。主要总结患儿病史、家族史、全身表现、眼部特征、诊断、治疗以及随访期间眼部及全身病情变化。结果13例患儿均为女性,就诊年龄为5 d~42个月,平均2.0(1.0,8.5)个月。初诊时主要皮肤损害表现为红斑水疱期4例,疣状皮疹期3例,色素沉着期6例;随访时见萎缩期7例。13例26眼中10例18眼有眼部受累,占总病例数的76.9%(占总眼数的69.2%);其中8例双眼受累,2例单眼受累,3例眼部未受累。眼部受累者均累及视网膜,典型表现为视网膜周边无血管区13眼,视网膜血管迂曲、扩张10眼,周边视网膜血管分支增多7眼,视网膜血管白线状改变、部分血管闭塞4眼,视网膜新生血管形成3眼,全视网膜脱离2眼,视网膜皱襞伴黄斑板层裂孔1眼。此外,视网膜出血11眼,视网膜色素改变4眼,灰白色条带样病灶3眼,黄斑发育不良2眼,脉络膜萎缩灶1眼,视盘前胶质增生1眼,视网膜黄白色渗出1眼。同时,4例患儿伴有斜视和眼球萎缩等眼部表现。分别有3例4眼和2例2眼行视网膜激光光凝和抗VEGF药物玻璃体腔注射,末次随访时活动病变消退,病情稳定。结论IP患儿眼部临床表现多样,以特征性的视网膜血管病变为主,早期诊断、及时治疗至关重要。Objective To investigate the ocular clinical manifestations in pediatric patients with incontinentia pigmenti(IP).Methods A case series study was carried out and a retrospective analysis was performed.Clinical data of 13 pediatric patients with IP treated from January 2013 to December 2019 in Xijing Hospital were collected.All the patients underwent regular ophthalmologic examination.Three patients accepted fundus fluorescein angiography and six eyes of five patients were treated with retinal photocoagulation or anti-vascular endothelial growth factor(VEGF)intravitreal injection according to severity of the condition.The follow-up period ranged from 6 months to 6 years.The medical history,family history,systemic manifestations,ocular characteristics,diagnosis,treatment as well as ocular and systemic changes during follow-up were recorded and analyzed.This study followed the Declaration of Helsinki and the study protocol was approved by the Ethics Committee of Xijing Hospital,Fourth Military Medical University(No.KY20203287-1).Results All the 13 patients were female aged from 5 days to 42 months at first visit,with the average age of 2.0(1.0,8.5)months.As for the main skin lesions at first visit,there were 4 cases in erythematous vesicle stage,3 cases in verrucous exanthema stage,and 6 cases in hyperpigmented stage.There were 7 cases in shrinkage stage during follow-up.Among the 26 eyes of 13 patients,18 eyes of 10 patients showed ocular anomalies,accounting for 76.9%of total patients(69.2%of total eyes).Among the 13 patients,8 patients presented bilateral ocular involvement,2 patients showed unilateral anomalies,and 3 patients had no ocular lesions.The retina was involved in all patients with ocular manifestations.The typical retinal lesions included avascular zone of peripheral retina in 13 eyes,tortuous and dilated retinal vessels in 10 eyes,increased vascular branch in 7 eyes,white linear retinal arteries and partial vascular occlusion in 4 eyes,retinal neovascularization in 3 eyes,total retinal detachment in

关 键 词：色素失禁症 眼部表现 临床特征 视网膜病变 婴幼儿 

分 类 号：R779.7[医药卫生—眼科]