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

Figure 6

Pedigree and ocular features of family 6. RetCam color fundus photograph from the LE of the 7 y/o male proband (II:1) of family 6, showing FEVR stage 3A for the presence of a falciform retinal fold arising from the optic nerve head, involving the macula and anchored in the temporal periphery without signs of exudation. Documented clinical evaluation; E+ and E−, positive and negative to genetic test, respectively. ^|Asymptomatic/presymptomatic carrier (stage 1 FEVR); LE, left eye.