Ophthalmology Department and Rare Eye Disease Reference Center OPHTARA, Necker-Enfants malades University Hospital, AP-HP, Paris, France.
INSERM, UMRS1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Paris University, Paris, France.
Orphanet J Rare Dis. 2020 Aug 27;15(1):223. doi: 10.1186/s13023-020-01509-2.
Early blindness secondary to incurable retinal detachment is one of the main complications of incontinentia pigmenti (IP). The efficiency of ophthalmological management for preventing such evolution has not been proven. The objective of this retrospective study was to report a screening and treatment strategy of the vascular retinopathy in newborns and infants with IP.
All files of patients diagnosed with IP within the two first months of life in a single tertiary referral center, between 2010 and 2015, were retrospectively included. The minimum follow-up duration was three years. Patients had undergone systematic indirect ophthalmoscopy examination, looking for signs of peripheric retinal vasculopathy, according to a standardized schedule: at diagnosis, at age 1, 2, 3, 6, 9, 12, 18 and 24 months, and then once a year. Urgent laser therapy was performed under anesthesia in case of signs of retinal ischemia. Nineteen children files (17 girls) were studied. Median age at IP diagnosis was 1 day [0-44]; median age at first retinal evaluation was 25 days. Retinal manifestations occurred in 7 patients (n = 10/38 eyes, 26.3%); they were diagnosed at median age 19 days [3-59]. These patients underwent one or two ablative session per eye (mean 1.7, median 2), under general anaesthesia. No retinal detachment or fold occurred during the follow-up (median 6 years [3-9.8]).
Ocular screening should be performed in all cases of IP as soon as possible after diagnosis. A strict ophthalmological monitoring and prophylactic treatment of retinal vasculopathy can efficiently prevent the early blinding complications of the disease.
无法治愈的视网膜脱离导致的早期失明是色素失禁症（IP）的主要并发症之一。眼科管理在预防这种演变方面的效果尚未得到证实。本回顾性研究的目的是报告色素失禁症新生儿和婴儿血管性视网膜病变的筛查和治疗策略。
回顾性纳入了 2010 年至 2015 年期间在一家三级转诊中心确诊的前两个月内患有 IP 的所有患者的病历。最小随访时间为 3 年。根据标准化时间表对患者进行了系统的间接检眼镜检查，以寻找周边视网膜血管病变的迹象：诊断时、1 岁、2 岁、3 岁、6 岁、9 岁、12 岁、18 岁和 24 个月，然后每年一次。如有视网膜缺血迹象，应在麻醉下进行紧急激光治疗。研究了 19 名儿童的病历（17 名女孩）。IP 诊断的中位年龄为 1 天[0-44]；首次视网膜评估的中位年龄为 25 天。7 名患者（n=10/38 只眼，26.3%）出现视网膜表现；中位年龄为 19 天[3-59]。这些患者每只眼接受了 1 或 2 次消融治疗（平均 1.7 次，中位数 2 次），均在全身麻醉下进行。在随访期间（中位 6 年[3-9.8]）未发生视网膜脱离或折叠。
应尽快对所有色素失禁症患者进行眼部筛查。严格的眼科监测和预防性视网膜血管病变治疗可以有效地预防疾病早期失明的并发症。
