Casey Eye Institute, Oregon Health and Science University, Portland, Oregon.
Casey Eye Institute, Oregon Health and Science University, Portland, Oregon; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota.
Ophthalmol Retina. 2022 Dec;6(12):1113-1121. doi: 10.1016/j.oret.2022.05.032. Epub 2022 Jun 9.
To evaluate the prevalence of retinal disease on fluorescein angiography (FA) in patients with incontinentia pigmenti (IP) and to compare the severity of retinal disease in those with and without known central nervous system (CNS) disease.
Multi-institutional consecutive retrospective case series.
New patients with a diagnosis of IP were seen at the Casey Eye Institute at the Oregon Health and Science University (OHSU), Moran Eye Center, University of Utah, or Bascom Palmer Eye Institute, University of Miami from December 2011 to September 2018.
Detailed ophthalmoscopic examination and FA were recommended for all new patients and performed on every patient who had parental consent. Ophthalmoscopic findings and FA images were graded for severity by 2 masked graders on a 3-point scale: 0 = no disease, 1 = vascular abnormalities without leakage, 2 = leakage or neovascularization, and 3 = retinal detachment. The presence of known CNS disease was documented. Additional cases were obtained from a pediatric retina listserv for examples of phenotypic variation.
The proportion of eyes noted to have disease on ophthalmoscopy compared with FA and the severity of retinal disease in those with and without known CNS disease.
Retinal pathology was detected in 18 of 35 patients (51%) by indirect ophthalmoscopy and 26 of 35 patients (74%) by FA (P = 0.048) in a predominantly pediatric population (median age, 9 months). Ten patients (29%) had known CNS disease at the time of the eye examination. A Wilcoxon rank-sum test indicated that the retinal severity scores for patients with CNS disease (median, 2) were significantly higher than the retinal severity scores for patients without CNS disease (median, 1), z = -2.12, P = 0.034.
Retinal disease is present in the majority of patients with IP, and ophthalmoscopic examination is less sensitive than FA for detection of disease. There may be a correlation between the severity of retinal and CNS disease.
评估患有色素失禁症（IP）患者的荧光素血管造影（FA）视网膜疾病的患病率，并比较有和无已知中枢神经系统（CNS）疾病的患者的视网膜疾病严重程度。
多机构连续回顾性病例系列。
2011 年 12 月至 2018 年 9 月，俄勒冈健康与科学大学凯西眼科研究所、犹他大学莫兰眼科中心、迈阿密大学巴斯康帕尔默眼科研究所的新患者被诊断为 IP。
建议所有新患者进行详细的眼科检查和 FA，并对有父母同意的每位患者进行检查。由 2 名盲法评分员根据 3 分制对眼底镜检查结果和 FA 图像进行严重程度分级：0=无疾病，1=无渗漏的血管异常，2=渗漏或新生血管形成，3=视网膜脱离。记录已知 CNS 疾病的存在。从儿科视网膜列表服务器中获取其他病例，以了解表型变异的示例。
与 FA 相比，眼底镜检查发现疾病的眼睛比例，以及有和无已知 CNS 疾病的患者的视网膜疾病严重程度。
在以儿科患者为主的人群中（中位年龄为 9 个月），间接检眼镜检查发现 18 例（51%）患者存在视网膜病变，FA 检查发现 26 例（74%）患者存在视网膜病变（P=0.048）。在眼部检查时，10 例（29%）患者患有已知 CNS 疾病。Wilcoxon 秩和检验表明，有 CNS 疾病的患者的视网膜严重程度评分（中位数为 2）明显高于无 CNS 疾病的患者（中位数为 1），z=-2.12，P=0.034。
IP 患者中大多数存在视网膜疾病，眼底镜检查对疾病的检出敏感性低于 FA。视网膜和 CNS 疾病的严重程度之间可能存在相关性。
