Fig. 2

Clinical features of patient B. A 15-year-old otherwise healthy male presented with a unilateral decrease in visual acuity and inward deviation of the left eye, which was first noticed by his parents when he was four. On colour fundus photographs of the right and the left eye (A, B), two separate areas of bilateral and symmetrical, multifocal subretinal yellowish deposits are seen in the posterior pole and upper nasal region, with notable peripapillary sparing. On blue light fundus autofluorescence (C, D), the yellowish deposits are hyperautofluorescent, and circumscribed areas show hypoautofluorescence. In the late phase of fluorescein angiography (E, F), diffuse staining, seen as diffuse hyperfluorescence of the yellowish deposits is observed. Horizontal spectral-domain optical coherence tomography scans through the fovea (G, H) show center-involving subretinal fluid and thickening of the ellipsoid zone, with elongation of the photoreceptor outer segments and deposits in the subretinal area