Long-Term Functional and Clinical Outcomes in Familial Exudative Vitreoretinopathy

Purpose: To characterize long-term functional and anatomical outcomes in patients with familial exudative vitreoretinopathy (FEVR). Methods: A retrospective chart review was conducted of all patients with a diagnosis of FEVR at a tertiary academic institution and its affiliated children’s hospital treated from January 2003 through January 2024. Demographic and clinical data were collected. Functional vision was defined as at least one eye with Snellen visual acuity (SVA) ≥20/40 and ambulatory vision defined as at least one eye with SVA ≥20/200. Results: A total of 186 eyes from 96 patients comprised the FEVR cohort, of which 90 eyes from 46 patients were included for analysis. Average age at presentation was 6.4 years (SD 8.6) and average duration of follow-up was 9.1 years (SD 7.3, range 0-40). At most recent exam, 77.3% of patients had functional vision and 88.6% had ambulatory vision. Globe salvage was achieved in 98.4% of eyes. Of the exam findings studied, only retinal detachment at presentation was significantly associated with worse vision in multivariable analysis. Conclusions: Patients in our FEVR cohort show promising long-term functional and ambulatory vision outcomes. More than 75% of patients were 20/40 or better, and 89% of patients avoided legal blindness.