Fig. 1

Clinical features of patient A (proband). A 17-year-old otherwise healthy female presented with blurred distance vision in both eyes, which she first noticed when she was 14 years old. Colour fundus photographs (A, B) show bilateral and symmetrical, multifocal subretinal yellowish deposits in the posterior pole and upper nasal region, with notable peripapillary sparing. The yellowish deposits are hyperautofluorescent on blue light fundus autofluorescence (C, D) and circumscribe areas of hypoautofluorescence. On fluorescein angiography (E, F), the yellowish deposits show diffuse staining in the late phase. Horizontal spectral-domain optical coherence tomography images through the right and left 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 space. Additionally, intraretinal hyporreflective areas predominantly located in the outer nuclear layer can be seen