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（n Z=-2.141，n 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，n IKBKG基因4~10号外显子缺失3例（37.5%，3/8 ）。n 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 (n Z=-2.141, n 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 neovascularization recurred in 1 eye. Among the 8 cases that underwent genetic testing, 3 cases (37.5%, 3/8) were deleted in exons 4-10 of the n IKBKG gene.n Conclusions:IP is more common in women. IP-associated retinopathy is noted with early-onset, asymmetrical retinopathy, which is identified with retinal neovascularization and vitreous proliferation. Early detection and timely treatment are essential.