期刊论文详细信息
Orphanet Journal of Rare Diseases
New retinal findings in NLRP3-associated autoinflammatory disease
Research
Wenyu Yan1  Xiao Zhang2  Bing Li2  Zhikun Yang2  Weihong Yu2  Donghui Li2  Xuqian Wang2  Xufeng Zhao2  Zhangwanyu Wei2  Bingxuan Wu3  Na Wu3  Min Shen3 
[1] Department of Ophthalmology, Peking Union Medical College Hospital, 100730, Beijing, China;Department of Ophthalmology, Peking Union Medical College Hospital, 100730, Beijing, China;Key Laboratory of Ocular Fundus Diseases, Chinese Academy of Medical Sciences, 100730, Beijing, China;Department of Rheumatology and Clinical Immunology, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Key Laboratory of Rheumatology and Clinical Immunology, Chinese Academy of Medical Sciences & Peking Union Medical College, Ministry of Education, Beijing, China;
关键词: NLRP3;    Cryopyrin-associated periodic syndrome (CAPS);    Retina;    Retinal vascular leakage;    Macular ischemia;    Microaneurysms;   
DOI  :  10.1186/s13023-023-02815-1
 received in 2023-02-20, accepted in 2023-07-07,  发布年份 2023
来源: Springer
PDF
【 摘 要 】

PurposeTo determine whether the rare NLRP3-Associated Autoinflammatory Disease (NLRP3-AID) is associated with retinal changes and to assess the ocular involvement.MethodsA 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).ResultsThis 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.ConclusionsPeripheral 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.

【 授权许可】

CC BY   
© The Author(s) 2023

【 预 览 】
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