Figure 2.

Ultra‐widefield retinal imaging (200° with single capture acquired with Optos device) of the proband (IV.1 [in Figure 1], a and b), his mother (III.2, c and d) and his maternal grandfather (II.2, e and f), all carrying the mutation in RB1 [NM_000321.2: c.45_76dup, p.(Pro26Leufs*50)]. (a and b) Ophthalmologic examination of the proband at age 18, in whom osteosarcoma developed at age 17: no history of leukocoria or strabismus. Visual acuity was 20/20 in both eyes. There was no retinoblastoma or retinoma. A single round flat lesion appeared on the far superior and temporal peripheral retina in the right eye (a, white arrows). This depigmented lesion is well demarcated with a ring or “halo” around its margin and agrees with a benign tumor of the retinal pigment epithelium (i.e., solitary congenital hypertrophy of the retinal pigment epithelium [CHRPE]). (c–f) No malignancy developed in the 47‐year‐old mother (c and d) or the 80‐year‐old grandfather (e and f) of the proband. Ultra‐widefield photographs did not reveal any active or spontaneously regressed retinoblastoma