Mental health outcomes in patients with inherited retinal diseases: a systematic review and meta-analysis.

PURPOSE: To assess the association between inherited retinal diseases (IRDs) and mental health outcomes, specifically examining the prevalence of depression and anxiety compared to general population estimates.

METHODS

Following PRISMA 2020 guidelines, we conducted a search of PubMed/MEDLINE, Scopus, Ovid, and Web of Science from inception through April 2025. Studies reporting quantitative prevalence data for depression and/or anxiety in IRD patients using validated instruments or standardized diagnostic criteria were included. Random-effects meta-analyses using the DerSimonian-Laird method with Freeman-Tukey double arcsine transformation were performed. Heterogeneity was assessed using I² statistics, and methodological quality was evaluated using the Newcastle-Ottawa Scale. Subgroup analyses examined prevalence by disease type, and sensitivity analyses tested result robustness.

RESULTS

Sixteen studies encompassing 12,868 participants met inclusion criteria. The pooled depression prevalence was 31.0% (95% CI: 22.1%-40.6%; I² = 93.9%), substantially exceeding general population rates. Anxiety prevalence was 29.3% (95% CI: 17.1%-43.3%; I² = 94.3%). Subgroup analysis revealed depression prevalence of 30.6% (95% CI: 22.4%-39.4%) for Retinitis Pigmentosa and 42.5% (95% CI: 0.0%-97.7%) for Stargardt disease. Other IRDs were represented by a single study reporting 14.6% prevalence. The test for subgroup differences approached statistical significance (p = 0.08). Sensitivity analyses confirmed result robustness despite substantial heterogeneity. Publication bias assessment suggested potential overestimation of depression prevalence.

CONCLUSION

Patients with IRDs experience a substantial mental health burden, with depression and anxiety prevalence markedly exceeding general population rates. These findings underscore the critical need for mental health screening integrated into routine ophthalmologic care.