A case of familial exudative vitreoretinopathy identified after genetic testing

We report the case of a 21-month-old girl who was found to have familial exudative vitreoretinopathy after genetic testing revealed a genetic deletion at 7q22. She had previously been followed for exotropia; however, fundus examinations in the office were thought to be normal. After the pediatric geneticist identified the link between 7q22 deletions and vitreoretinopathies an examination under anesthesia was performed. Fluorescein angiography during this examination confirmed the presence of avascular areas of the retina.