色素失禁症相关视网膜病变12例患者临床分析  

Clinical features and treatment of 12 cases with incontinentia pigmenti-associated retinopathy

作　　者：王琼 丁小燕[1] 黄思建[1] 黎小瑜 孙立梅[1] 李松珊 张婷[1] 黄莉 李加青[1] Wang Qiong;Ding Xiaoyan;Huang Sijian;Li Xiaoyu;Sun Limei;Li Songshan;Zhang Ting;Huang Li;Li Jiaqing(State Key Lab of Ophthalmology,Zhongshan Ophthalmic Center,Sun Yat-sen University,Guangzhou 510060,China)

机构地区：[1]中山大学中山眼科中心,眼科学国家重点实验室,广州510060

出　　处：《中华眼底病杂志》2021年第4期277-283,共7页Chinese Journal of Ocular Fundus Diseases

摘　　要：目的观察并分析色素失禁症(IP)相关视网膜病变患者的临床特征、治疗方法及疗效。方法回顾性临床病例研究。2015年1月至2018年12月于中山大学中山眼科中心检查确诊的IP或IP相关视网膜病变患者12例24只眼纳入研究。年龄>4岁患者行最佳矫正视力检查和眼压测量。所有患者均于表面麻醉或全身麻醉下行眼前节、玻璃体、眼底检查。行基因检测8例。有活动性病变者,给予抗血管内皮生长因子(VEGF)药物治疗、视网膜激光光凝或玻璃体切割手术;无活动性病变者给予观察。所有患者1~3个月随访1次,平均随访时间18.7个月。结果患者均为女性,首诊眼科时平均年龄(6.3±9.8)岁。根据儿科医生建议主动行眼科筛查(转诊者)3例,平均年龄(0.4±0.5)岁(中位年龄:2个月)。未获转诊建议者(非转诊者)共9例,包括因视力障碍首诊眼科者3例,眼科就诊前未确诊IP者6例;其首诊平均年龄(8.2±10.8)岁(中位年龄:3岁)。非转诊者首诊年龄较转诊者大,差异有统计学意义(Z=-2.141,P=0.036)。12例24只眼中,眼底未见明显异常1例2只眼,IP相关视网膜病变11例22只眼(91.7%,22/24);双眼不对称者8例(66.7%,8/12)。眼底有活动性病变7只眼(29.2%,7/24),给予单纯视网膜激光光凝和(或)抗VEGF药物治疗。随访期间,视网膜新生血管复发1只眼。行基因检测的8例中,IKBKG基因4~10号外显子缺失3例(37.5%,3/8)。结论IP相关视网膜病变多见于女性,发病年龄早;具有双眼累及但不对称特点,主要表现为视网膜新生血管和纤维增生;早发现、早治疗是改善预后的最主要方法。Objective To observe and analyze the clinical features,treatment methods and efficacy of patients with retinopathy associated with incontinentia pigmenti(IP).Methods A retrospective case study.Twelve clinical confirmed IP patients(24 eyes)in Zhongshan Ophthalmic Center of Sun Yat-sen University from January 2015 to December 2018 were included in this study.The best corrected visual acuity and intraocular pressure examination were performed in patients(>4 years old).All patients were examined on the anterior segment,vitreous body,and fundus under topical anesthesia or general anesthesia.Eight cases underwent genetic testing.Patients with active disease should be given anti-vascular endothelial growth factor(VEGF)drug treatment,retinal laser photocoagulation or vitrectomy,those without active disease should be observed.All patients were followed up for 1 to 3 months,with an average follow-up time of 18.7 months.Results All patients were all female,with an average age of 6.3±9.8 years old at the first ophthalmology visit.According to the recommendations of the pediatrician,3 cases were actively screened for ophthalmology(referrals),with an average age of 0.4±0.5 years(median age:2 months).A total of 9 cases were not recommended for referrals(non-referrals),including 3 cases of ophthalmology who were diagnosed for the first time due to visual impairment,and 6 cases of undiagnosed IP before the ophthalmology visit,the average age of their first visit was 8.2±10.8 years(medium age:3 years old).The age of the first visit for non-referred patients was larger than that of referrals,and the difference was statistically significant(Z=-2.141,P=0.036).Among the 24 eyes of 12 cases,there were no obvious fundus abnormalities in 1 case or 2 eyes,11 cases of IP-related retinopathy in 22 eyes(91.7%,22/24),8 cases of binocular asymmetry(66.7%,8/12).There were active lesions on the fundus in 7 eyes(29.2%,7/24).Patients underwent simple retinal laser photocoagulation and/or anti-VEGF drug therapy.During the follow-up,retinal neova

关 键 词：色素失调症 视网膜疾病 疾病特征 IKBKG基因 

分 类 号：R774.1[医药卫生—眼科]