Clinical Characteristics and Long-term Visual Prognosis of Familial Exudative Vitreoretinopathy

Abstract

OBJECTIVE: To investigate the clinical characteristics and long-term visual outcomes of familial exudative vitreoretinopathy (FEVR). DESIGN: Retrospective case series. SUBJECTS: Patients diagnosed with FEVR and treated at Ramathibodi Hospital, Bangkok, Thailand, between January 2007 and February 2024. METHODS: Medical records were reviewed for demographic data, clinical features, management, and visual outcomes. Logistic regression was used to identify predictors of visual outcomes. MAIN OUTCOME MEASURES: Clinical characteristics, treatment modalities, surgical success, and visual outcomes. RESULTS: Ninety-two eyes of 46 patients were included. The median (interquartile range) age of onset was 6.4 (2.0-24.0) months. FEVR stages 1, 2, 3, 4, and 5 were observed in 38.0%, 13.0%, 6.6%, 26.1%, and 16.3% of eyes, respectively. Retinal vessel abnormalities (55.4%) were the most common posterior finding. Overall, 62.0% of eyes required no treatment, 34.8% underwent laser photocoagulation, and 7.6% received surgery (pneumatic retinopexy [PR], pars plana vitrectomy with silicone oil [PPV+SO], or scleral buckling). The surgical success rate was 42.9%. Peripheral avascular retina <9 clock-hours was significantly associated with better visual outcomes, with an OR (95% CI) of 3.61 (1.06, 12.32). Disc dragging, macular dragging, and retinal detachment were associated with worse outcomes, with ORs (95% CI) of 0.12 (0.04-0.36), 0.04 (0.01-0.15), and 0.03 (0.01-0.12), respectively. Stage 4 disease independently predicted poor outcome with adjusted OR (95% CI) of 0.05 (0.00-0.82), P = .036). CONCLUSIONS: Most patients with FEVR presented with mild disease requiring no treatment, Despite successful treatment, advanced stages (≥4) were significantly associated with poor vision. When appropriately selected, PPV+SO and PR have potential benefits, particularly in achieving anatomical attachment.