Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy

Figure 1

Pedigree and ocular features of family 1. Color fundus photographs by RetCam and fluorescein angiograms from the 9 y/o male proband (II:1) of family 1. The RE presented normal posterior pole; however, the fluorescein angiography showed a large area of avascular retina in the peripheral retina (FEVR stage 1). No signs of neovascularization or peripheral exudation were noticed. The LE presented a falciform retinal fold anchored to the temporal retinal sector without signs of peripheral exudation (FEVR stage 3A). Documented clinical evaluation; E+ and E−, positive and negative to genetic test, respectively; RE, right eye; LE, left eye.