EARLY-ONSET OF FAMILIAL EXUDATIVE VITREORETINOPATHY

Familial exudative vitreoretinopathy cases with a diagnosis in early infancy have a severe stage at presentation, and a worse prognosis. Early examination of first-degree relatives with familial exudative vitreoretinopathy under general anesthesia is essential for a prompt screening and treatment of the disease, to avoid progression of the disease and complications. Purpose:To describe the clinical characteristics, management, and outcomes of toddlers (under the age of 3) diagnosed with familial exudative vitreoretinopathy.Methods:In this retrospective study, patients diagnosed with familial exudative vitreoretinopathy before the age of 3 were included. 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, whereas screening only represented 11%. About half of included patients had a severe disease (stages 4 and 5). Genetic testing was positive in 40.7% of patients with 24% having a family history of familial exudative vitreoretinopathy. 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), most (76.4%) had a vision of hand motion or better.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, whereas screening only represented 11%. About half of included patients had a severe disease (stages 4 and 5). Genetic testing was positive in 40.7% of patients with 24% having a family history of familial exudative vitreoretinopathy. 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), most (76.4%) had a vision of hand motion or better.Conclusion:Familial exudative vitreoretinopathy 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.