Lu Yuezhu, Shen Min, Yang Zhikun, Zhang Xiao, Li Donghui, Wei Zhangwanyu, Li Bing, Zhao Xufeng, Wu Na, Wu Bingxuan, Yu Weihong, Zhong Yong
Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Key Laboratory of Ocular Fundus Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Chinese Academy of Medical Sciences, Beijing, China.
Ann Med. 2025 Dec;57(1):2438842. doi: 10.1080/07853890.2024.2438842. Epub 2024 Dec 13.
To investigate the optic disc changes (ODC) in Chinese patients with -associated autoinflammatory disease (-AID).
Patients who were diagnosed with -AID at the Department of Rheumatology, Peking Union Medical College Hospital between April 2015 and December 2022 were retrospectively reviewed and analyzed.
A total of 20 patients were enrolled in this retrospective study. All 20 patients had a moderate MWS -AID phenotype. Thirteen patients (65%) had ocular involvements. The interval between symptoms onset and diagnosis was significantly longer in patients with ocular involvement than in patients without ( = 0.044). The incidence of hearing loss was significantly higher in patients with ocular involvement ( = 0.017), while the incidence of abdominal pain was significantly lower when compared to patients without ocular involvement ( = 0.007). Optic disc swelling (ODS) (50%) was the most common ODC. All of the four T348M mutation carriers within our cohort exhibited ODS with visual-field defects. There was a significant difference between patients with/without ODS regarding the number of patients carrying T348M mutation ( = 0.014). The occurrence of hearing loss and CNS involvement was significantly higher in the group with ODS compared to the group without ( = 0.0014, = 0.0198). Of the eight patients who underwent lumbar puncture, five presented with intracranial hypertension (IH). ODS was observed in all patients with IH. The serum inflammatory markers were significantly higher in patients with ODS than in those without. Two patients receiving regular subcutaneous IL-1 inhibitor treatment showed improvements in ODC.
ODC is common among Chinese patients with NLRP3-AID, with ODS being the most common manifestation. Hearing loss and CNS involvement often accompany the occurrence of ODS. The serum inflammatory markers are associated with ODS. The T348M mutation is more likely to lead to ODC with visual-field defects.
研究中国伴有自身炎症性疾病（-AID）患者的视盘改变（ODC）。
回顾性分析2015年4月至2022年12月在北京协和医院风湿免疫科诊断为-AID的患者。
本回顾性研究共纳入20例患者。所有20例患者均具有中度MWS -AID表型。13例患者（65%）有眼部受累。有眼部受累患者的症状出现至诊断的间隔时间显著长于无眼部受累患者（=0.044）。有眼部受累患者的听力损失发生率显著更高（=0.017），而与无眼部受累患者相比，腹痛发生率显著更低（=0.007）。视盘肿胀（ODS）（50%）是最常见的ODC。我们队列中的4名T348M突变携带者均表现出ODS伴视野缺损。有/无ODS患者中携带T348M突变的患者数量存在显著差异（=0.014）。与无ODS组相比，有ODS组的听力损失和中枢神经系统受累发生率显著更高（=0.0014，=0.0198）。在接受腰椎穿刺的8例患者中，5例出现颅内高压（IH）。所有IH患者均观察到ODS。有ODS患者的血清炎症标志物显著高于无ODS患者。2例接受常规皮下IL-1抑制剂治疗的患者ODC有所改善。
ODC在中国NLRP3-AID患者中很常见，ODS是最常见的表现。听力损失和中枢神经系统受累常伴随ODS的发生。血清炎症标志物与ODS相关。T348M突变更易导致伴视野缺损的ODC。
