Ophthalmology Department, Our Lady's Hospital, Crumlin, Dublin, Ireland.
Br J Ophthalmol. 2011 Jan;95(1):11-6. doi: 10.1136/bjo.2009.164434. Epub 2010 Sep 9.
The aims of this study were to make an inventory of the disease in Ireland, to acquire better knowledge of the relationship between genetic makeup and phenotypic ocular presentation and, finally, through literature review and personal experience, to establish clear guidelines on best practice in the management of children with this rare condition both in terms of screening and follow-up.
All patients who attended the dermatology and genetic clinic in Our Lady's Hospital for Sick Children, Crumlin, with incontinentia pigmenti (IP) were contacted and invited to attend the eye clinic for ocular assessment. Children who were already attending the ophthalmic services before commencement of the study had their charts reviewed for assessment.
11 of 19 patients agreed to attend the clinic for ocular assessment. Of these patients, nine had genetic testing. The mean age of the patients at the examination was 8 years (3 months to 29 years). In 10 patients, IP was the result of a spontaneous mutation, whereas the condition was inherited from an affected mother in one patient. Of the 11 patients with IP, 5 have visually significant ocular findings (47%). We describe the case history of four of these children briefly to outline the severity of this condition.
Our patients had a significant percentage of ocular abnormalities (47%). We have outlined an examination schedule for patients with and without retinal pathology and recommend fluorescein angiography in patients with retinal pathology to fully determine the extent of ischaemia. Like other studies, early treatment with peripheral retinal photocoagulation to reduce the risk of retinal detachment is recommended in this study.
本研究旨在对爱尔兰的疾病进行普查，更好地了解遗传构成与表型眼部表现之间的关系，最后，通过文献回顾和个人经验，为患有这种罕见疾病的儿童制定明确的最佳管理指南，包括筛查和随访。
联系了所有在克鲁姆林圣母医院皮肤科和遗传诊所就诊的患有色素失禁症（IP）的患者，并邀请他们到眼科诊所进行眼部评估。在研究开始前已经在眼科服务就诊的儿童，其病历将进行回顾以进行评估。
19 名患者中有 11 名同意接受眼部评估。这些患者中有 9 名接受了基因检测。检查时患者的平均年龄为 8 岁（3 个月至 29 岁）。在 10 名患者中，IP 是自发突变的结果，而在 1 名患者中，该疾病是从患病母亲遗传而来。在 11 名患有 IP 的患者中，有 5 名（47%）有明显的眼部异常。我们简要描述了其中 4 名儿童的病例，以概述该疾病的严重程度。
我们的患者有相当比例的眼部异常（47%）。我们已经为有视网膜病变和无视网膜病变的患者制定了检查时间表，并建议对有视网膜病变的患者进行荧光素血管造影，以全面确定缺血的程度。与其他研究一样，本研究也建议早期对周边视网膜进行光凝治疗，以降低视网膜脱离的风险。
