目的:确定罕见的NLRP3相关自身炎症性疾病(NLRP3-AID)是否与视网膜病变相关,并评估眼部受累情况。
方法:对北京协和医院20例(40只眼)罕见NLRP3-AID患者进行回顾性队列研究,从2015年4月到2022年8月。患者接受了全面的眼科检查,包括视力,眼压检查,裂隙灯检查,眼底摄影,光学相干断层扫描(OCT),和荧光血管造影(FA)。一些患者还接受了光学相干断层扫描血管造影(OCTA)。
结果:本研究分析了20例患者的40只眼(男性11例[55.0%];中位年龄,25.0年[范围,12-52岁])和13名患者(26只眼,65%)表现为眼部受累。最常见的眼科表现是结膜炎(22眼,84.6%),其次是乳头水肿(14眼,53.8%),视网膜病变(10只眼,38.5%),视神经萎缩(6眼,23.1%),葡萄膜炎(4只眼睛,15.4%),减少瞳孔光反射(3眼,11.5%)和白内障(2眼,7.7%)。11例患者(55.0%)双侧眼部受累。5例(10只眼,25%)与NLRP3-AID,包括周边视网膜血管渗漏,微动脉瘤,黄斑缺血,黄斑前膜形成和玻璃疣。
结论:周围视网膜血管渗漏,黄斑缺血,微动脉瘤和玻璃疣是NLRP3-AID患者新近发现的视网膜发现,这表明对这些患者进行详细视网膜检查的重要性。
To determine whether the rare NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) is associated with retinal changes and to assess the ocular involvement.
A retrospective cohort study of 20 patients(40 eyes) diagnosed with rare NLRP3-AID at Peking Union Medical College Hospital, from April 2015 to August 2022. Patients underwent a comprehensive ophthalmological examination, including visual acuity, intraocular pressure examination, slit-lamp examination, fundus photography, optical coherence tomography(OCT), and fluorescence angiography (FA). Some patients also underwent optical coherence tomography angiography (OCTA).
This study analyzed 40 eyes of 20 patients (11 [55.0%] male; median age, 25.0 years [range, 12-52 years]) and 13 patients (26 eyes, 65%) demonstrated ocular involvement. The most common ophthalmologic manifestation was conjunctivitis (22 eyes, 84.6%), followed by papilledema (14 eyes, 53.8%), retinopathy (10 eyes, 38.5%), optic atrophy (6 eyes, 23.1%), uveitis (4 eyes, 15.4%), reduced pupil light reflex (3 eyes, 11.5%) and cataracts (2 eyes, 7.7%). Ocular involvement was bilateral in 11 patients (55.0%). Five kinds of retinal lesions were seen in 5 patients (10 eyes, 25%) with NLRP3-AID, including peripheral retinal vascular leakage, microaneurysms, macular ischemia, macular epiretinal membrane formation and drusen.
Peripheral retinal vascular leakage, macular ischemia, microaneurysms and drusen are newly identified retinal findings in patients with NLRP3-AID, which suggests the importance of detailed retinal examination in these patients.