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

Figure 2

Pedigree and ocular features of family 2. Red-free images and fluorescein angiograms from the proband’s father (I:1) showing similar findings in both eyes consisting of slight abnormalities of the peripheral retinal vasculature as indicated by the arrows. The posterior pole and the mid periphery were normal. Daytona wide-field color fundus photos and OCT scan of the proband (II:1) at the age of 2 years showing the presence of a falciform fold and peripheral avascular retina in the RE. The wide-field angiography of the LE (early and late phases) revealed a normal posterior pole and a severe leakage from undiscovered peripheral neovascular networks that were treated promptly to avoid exudation and visual impairment. Documented clinical evaluation; E+ and E−, positive and negative to genetic test, respectively; ^|asymptomatic/presymptomatic carrier (stage 1 FEVR); RE, right eye; LE, left eye.