Familial exudative vitreoretinopathy in Chile: clinical features and outcomes

Background: Familial exudative vitreoretinopathy (FEVR) is a rare inherited vitreoretinal disorder with marked phenotypic variability and a risk of severe visual loss when diagnosed at advanced stages.Objectives: To describe the clinical characteristics, multimodal imaging findings, and anatomical and functional outcomes of a cohort of patients with FEVR treated at a tertiary referral center in Chile.Methods: This retrospective observational case series included 37 eyes of 21 patients diagnosed with FEVR between 2010 and 2025 at Fundación Oftalmológica Los Andes.Clinical, imaging, treatment, and outcome variables were recorded.No genetic testing was performed in this series.Disease stage was classified according to Pendergast and Trese (I-V).The study was reported in accordance with the STROBE statement.Results: Mean age at diagnosis was 12.8 ± 8.6 years, and 57% of patients were male.Advanced disease (stages III-V) was present in 62% of eyes.Mean visual acuity worsened from 0.90 ± 0.7 to 1.35 ± 0.8 logMAR (p < 0.01).Ten-year anatomical survival was 67%, with significantly poorer outcomes in advanced compared with early stages (p < 0.001).Laser photocoagulation was associated with greater disease stability, whereas eyes requiring anti-VEGF therapy or vitreoretinal surgery had worse functional outcomes.Conclusions: In this Chilean cohort, FEVR was frequently diagnosed at advanced stages and was associated with unfavorable long-term visual outcomes.Early diagnosis and family screening may improve prognosis.