Clinical and Molecular Evaluation of Probands and Family Members with Familial Exudative Vitreoretinopathy

Abstract

Significant anatomic differences were identified between the eyes of patients with FEVR with an avascular zone, when compared with those of the control subjects. In patients with an avascular zone, the optic disc was smaller and the disc-to-macula distance larger than in the control subjects. In 60% of the probands, mutations were identified in one of the three known FEVR genes.