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

Figure 4

Pedigree and ocular features of family 4. Fluorescein angiograms by RetCam from the 7 y/o male proband (II:2) of family 4, showing FEVR stage 2B with slight optic nerve pallor, areas of chorioretinal atrophy due to previous laser treatment and a persisting small area of leakage in the peripheral retina of the RE. Color fundus photographs by RetCam of the LE with FEVR stage 3B clearly show the presence of a falciform fold arising from the optic nerve head, with partial traction on the surrounding retina. Stage 3A FEVR of the proband’s older brother (II:1) is shown in the color fundus photograph from his LE. Macular OCT images of proband’s father and mother are also shown in upper left and upper right quadrants of figure, respectively. The mother’s exam shows a slight reduction of macular thickness. Documented clinical evaluation; E+ and E−, positive and negative to genetic test, respectively; ^●obligate carrier; RE, right eye; LE, left eye.