Early-onset of Familial Exudative Vitreoretinopathy: clinical characteristics, management and outcomes

Abstract Purpose: To describe the clinical characteristics, management and outcomes of toddlers (under the age of 3) diagnosed with Familial exudative vitreoretinopathy (FEVR). Methods: In this retrospective study we included patients diagnosed with FEVR before the age of 3. Presenting characteristics, genetic testing, management and outcomes were collected. Results: A total of 54 patients (108 eyes) with a mean age at diagnosis of 10.9±2.6 months were included. Poor visual behavior (33%) and strabismus (26%) were the most common presenting symptoms while screening only represented 11%. About half of included patients had a severe disease (stage 4 and 5). Genetic testing was positive in 40.7% of patients with 24% having a family history of FEVR. LRP5 was the most prevalent mutation (54.5%). Surgery was performed in 44.4% of eyes and was successful in 69.8% of cases. Failure exclusively occurred in eyes with severe stages. Among eyes evaluated for visual acuity (72 eyes), a majority (76.4%) had a vision of hand motion or better. Conclusion: FEVR tended to be worse with earlier age at diagnosis, subsequently affecting the prognosis. Surgical intervention was common and primarily included lens sparing vitrectomy and combined lensectomy and vitrectomy. Surgical success hinged on the stage of the disease.