Figure 2.

Retinal Images

(A and B) Family 1. Fundus images of left eyes of individual IV-15 (A), showing mid peripheral flecks (white arrows) and pigment clumping (black arrows), and of IV-1 (B), demonstrating severe vascular attenuation (arrows) and disc pallor (circled).

(C and D) Family 2. Fundus images of affected siblings, showing the dense pigmentary changes (black areas) that were present in all quadrants of the peripheral retina and the abrupt change to a more-normal-appearing central retina (arrows). Inferotemporal left retina of the female proband (P1) at age 30 years (C) and inferior left retina of the proband's brother (P2) at age 40 years (D).

(E and F) Family 3. Color fundus photos of the posterior pole (top) and inferior retina (bottom) of the right and left eyes of the proband in family 3 (F), with normal autofluorescence imaging of the posterior poles (E). Bone spiculation is seen in the peripheral retina only (arrows in F).

(G and H) Family 4. Fundus images of the left (G) and right (H) eyes of the proband. Note the abrupt demarcation between normal (light areas) and abnormal (dark areas) peripheral retina. RPE degeneration and bone-spicule-like pigment clumping (arrows) were present circumferentially in both eyes.

(I–K) Family 5. Proband (III-5), 23 years of age, showing total serous retinal detachment in the right eye (arrows), with central yellow deposit (I) and retinal detachment extending nasally (J). Autofluorescence imaging in individual III-2, showing increased signal in area of yellow deposits (arrows) (K).