Purpose: To evaluate the heterogeneity of both the clinical features and genetics of familial exudative vitreoretinopathy (FEVR) in a Northern Irish population.
Methods: A retrospective trawl of a secure pediatric database was completed, as well as communication with all Northern Ireland ophthalmologists to identify adult cases. Cases were cross-referenced with a regional genetics database. Data on patient demographics, clinical findings, genetic testing, and patient treatment were collected.
Results: Sixteen patients were identified. Average age at presentation was 11.8 years (range: 4 months to 38 years). Earlier age at presentation was associated with more advanced disease and those presenting later had more subtle signs such as retinal tear or vitreous hemorrhage. Four types of gene mutations were identified in 7 patients (NDP, TSPAN12, FZD4, and KIF11). Thirteen patients had complications associated with FEVR and associated systemic conditions were found in 5 patients. Twelve eyes received active treatment to control disease.
Conclusions: FEVR is a sight-threatening disease affecting prenatal retinal angiogenesis with a spectrum of disease and diverse genetic basis. Clinicians should look for signs of systemic and other ophthalmic sequelae in patients with FEVR because this could point to a genetic cause. Vigilance should also be exercised in older patients with unexplained vitreous hemorrhage or retinal tear with consideration of widefield angiography if FEVR is suspected. [J Pediatr Ophthalmol Strabismus. 2022;59(2):102-109.].