Optic disc changes in Chinese patients with NLRP3-associated autoinflammatory disease

Yuezhu Lu; Min Shen; Zhikun Yang; Xiao Zhang; Donghui Li; Zhangwanyu Wei; Bing Li; Xufeng Zhao; Na Wu; Bingxuan Wu; Weihong Yu; Yong Zhong

doi:10.1080/07853890.2024.2438842

Optic disc changes in Chinese patients with NLRP3-associated autoinflammatory disease

Ann Med. 2025 Dec;57(1):2438842. doi: 10.1080/07853890.2024.2438842. Epub 2024 Dec 13.

Authors

Yuezhu Lu^{1

2}, Min Shen^{3

4}, Zhikun Yang^{1

2}, Xiao Zhang^{1

2}, Donghui Li^{1

2}, Zhangwanyu Wei^{1

2}, Bing Li^{1

2}, Xufeng Zhao^{1

2}, Na Wu^{3

4}, Bingxuan Wu^{3

4}, Weihong Yu^{1

2}, Yong Zhong^{1

2}

Affiliations

¹ Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
² Key Laboratory of Ocular Fundus Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Chinese Academy of Medical Sciences, Beijing, China.
³ Department of Rare Diseases, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
⁴ Department of Rheumatology and Clinical Immunology, National Clinical Research Center for Dermatologic and Immunologic Diseases (NCRC-DID), Ministry of Science & Technology, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, PUMCH, Beijing, China.

Abstract

Objective: To investigate the optic disc changes (ODC) in Chinese patients with NLRP3-associated autoinflammatory disease (NLRP3-AID).

Methods: Patients who were diagnosed with NLRP3-AID at the Department of Rheumatology, Peking Union Medical College Hospital between April 2015 and December 2022 were retrospectively reviewed and analyzed.

Results: A total of 20 patients were enrolled in this retrospective study. All 20 patients had a moderate MWS NLRP3-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 (p = 0.044). The incidence of hearing loss was significantly higher in patients with ocular involvement (p = 0.017), while the incidence of abdominal pain was significantly lower when compared to patients without ocular involvement (p = 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 (p = 0.014). The occurrence of hearing loss and CNS involvement was significantly higher in the group with ODS compared to the group without (p = 0.0014, p = 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.

Conclusions: 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.

Keywords: NLRP3; NLRP3-AID; autoinflammatory disease; optic disc changes; optic disc swelling.

MeSH terms

Adolescent
Adult
Child
China / epidemiology
Cryopyrin-Associated Periodic Syndromes* / epidemiology
Cryopyrin-Associated Periodic Syndromes* / genetics
East Asian People
Female
Hearing Loss / epidemiology
Hearing Loss / etiology
Hearing Loss / genetics
Humans
Male
Middle Aged
Mutation*
NLR Family, Pyrin Domain-Containing 3 Protein* / genetics
Optic Disk* / pathology
Papilledema
Retrospective Studies
Young Adult

Substances

NLR Family, Pyrin Domain-Containing 3 Protein
NLRP3 protein, human

Grants and funding

This work was supported by National High Level Hospital Clinical Research Funding under Grants 2022-PUMCH-C-61, 2022-PUMCH-D-002, and 2022-PUMCH-B-013; Xinjiang Production and Construction Corps Science and Technology Project, Science and Technology Development Program in Major Fields under Grant 2022AB021.