HLA-B27 positivity and systemic disease profiles in patients with non-infectious ocular disorders: a 12-year retrospective single-center study

This study explored the HLA‑B27 positivity rate in several clinically diagnosed non-infectious ocular diseases. This large-sample study is an exploratory laboratory screening study that aims to describe the overall distribution of HLA-B27 positivity rate in patients with various non-infectious ocular diseases. A total of 6253 consecutive eligible patients who underwent HLA-B27 testing and met the study inclusion criteria were included from January 2012 to December 2023. HLA-B27 testing was performed as part of routine clinical evaluation in this cohort. Routine flow cytometric HLA-B27 antigen testing on EDTA-anticoagulated whole blood specimens within 2 h after blood collection. For HLA-B27-positive patients, rheumatology consultation was performed, with collection of detailed clinical, laboratory, imaging, pathological and other auxiliary data to identify concurrent systemic diseases. This is a retrospective analysis of de-identified clinical and laboratory data; no stored blood specimens were retested for this study. Patients were divided into the uveitis, scleritis, keratitis, conjunctivitis, optic neuritis, central retinal vein occlusion (CRVO), external ophthalmoplegia (EO), and xerophthalmia groups. There were 2618 males and 3635 females. The mean patient age was 45.04 ± 15.89 years, with a range of 3 to 91 years. There were 1,051 HLA-B27-positive cases among the 6253 cases (16.8%,1051/6253). The HLA-B27 positivity rate was significantly greater in males [19.9% (522/2618)] than in females [14.6% (529/3635)]. The HLA-B27 positivity rate in patients with uveitis was 29.8% (745/2504), and the HLA-B27 positivity rate in patients with acute anterior uveitis (AAU) was 59.8% (634/1060). Among the 1051 HLA-B27-positive patients, a total of 741 were diagnosed with systemic disease:571 patients were diagnosed with AS, 63 with ulcerative colitis, 34 with rheumatoid arthritis, 26 with psoriasis, 22 with Behcet’s disease, 15 with Crohn’s disease, 6 with juvenile idiopathic arthritis, and 4 with gout. Among HLA‑B27‑positive patients in this tertiary‑referral ocular cohort, uveitis—particularly acute anterior uveitis—was the predominant ocular category, and ankylosing spondylitis was the most frequently documented systemic disease. Nevertheless, controlled prospective investigations are necessary to verify causal or disease-specific relationships. Multidisciplinary engagement of ophthalmologists and rheumatologists plays an essential role in facilitating early diagnosis and appropriate management of non-infectious ocular manifestations linked to systemic diseases. Among HLA‑B27‑positive patients in this tertiary‑referral ocular cohort, uveitis—particularly acute anterior uveitis—was the predominant ocular category, and ankylosing spondylitis was the most frequently documented systemic disease. Nevertheless, controlled prospective investigations are necessary to verify causal or disease-specific relationships. Multidisciplinary engagement of ophthalmologists and rheumatologists plays an essential role in facilitating early diagnosis and appropriate management of non-infectious ocular manifestations linked to systemic diseases.