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

Figure 5

Pedigree and ocular features of family 5. Color fundus photographs by RetCam from the 3 y/o male proband (II:1) of family 5 showing a closed funnel total retinal detachment in the right eye and peripheral exudation with vascular abnormalities before and after laser treatment in the left eye. Fluorescein angiograms performed with RetCam before and after laser treatment showing peripheral ischemic areas with leakage mainly in temporal and inferior peripheral retina in the left eye. Top right, OCT macular scans from the proband’s mother (I:2) showing normal retinal features. Documented clinical evaluation; E+, positive to genetic test; RE, right eye; LE, left eye; LE, images taken at a subsequent examination after the laser treatment.