Figure 2  Clinical Presentation of Subjects with POC1B Mutations
(A and B) Fundus photography of the right eye of individual A-II:3 of family A at 12 years of age. (A) Posterior pole with normal macular region. (B) Peripheral field with relative hypopigmentation (∗), but no pathologic RPE changes.
(C and D) Fundus photography of the right eye of individual B-II:1 of family B at 60 years of age. (C) Posterior pole with optic nerve pallor (∗), attenuated vessels (arrowhead), and no RPE disturbances at the macula. (D) Peripheral inferior field with mild RPE atrophy and bone-spicule pigmentations (arrowhead).
(E) OCT of the left eye of individual B-II:1 showed no foveal hypoplasia but did show changes at the inner-segment ellipsoid zone (arrow) and adherent posterior hyaloid membrane (∗).