Clinical features and the impact of MEFV Variants in pediatric non-infectious uveitis: a retrospective single-center...

To evaluate the clinical features, etiological distribution, complications, treatment responses, and the impact of co-existing MEFV gene variants on disease course in pediatric non-infectious uveitis.

This retrospective study included 73 patients (128 eyes) diagnosed with non-infectious uveitis and followed at a single tertiary center between 2017 and 2024. Demographic, clinical, laboratory, and treatment data were analyzed. The presence of MEFV variants, their subtype (Exon 10 vs non-Exon 10), and zygosity were evaluated in relation to clinical outcomes. Univariable and multivariable logistic regression analyses were performed.

The mean age was 9.9 ± 4.4 years, and 52.1% of patients were male. Anterior uveitis was the most common subtype (54.3%). Overall, 48% of patients developed complications and 18.6% required surgical intervention. MEFV variants were detected in 28% of patients and were associated with an increased risk of surgical intervention in univariable analysis (OR: 5.00, 95% CI: 1.13-22.05, p = 0.034), although this was not significant in multivariable analysis. MEFV variants were not associated with overall complication risk. However, Exon 10 variants were significantly associated with an increased risk of complications (OR: 24.0, 95% CI: 1.14-505.19, p = 0.041) and showed a trend toward increased surgical requirement. ANA positivity was independently associated with complication development.

MEFV mutations may be associated with increased disease severity in pediatric non-infectious uveitis, particularly in relation to surgical intervention. Exon 10 variants appear to confer a higher risk of complications and may have prognostic value. MEFV testing may be considered in selected patients, especially those with severe or refractory disease. Further studies are needed to clarify the role of MEFV mutations and the potential benefit of targeted therapies such as colchicine. Key Points • Pediatric non-infectious uveitis in our cohort predominantly showed a chronic and persistent disease course. • MEFV variants were found in 28% of patients, were associated with earlier disease onset, and these patients had a significantly higher need for surgical intervention. • Exon 10 variants were associated with higher complication rates, increased surgical requirements, and poorer visual outcomes. • Screening for MEFV variants may help identify high-risk patients requiring closer monitoring and more intensive management.