Fig. 4

Imaging of the proband’s younger sister (II/4). Images (a to f) at review aged 56, at 38 years after diagnosis. Optos imaging showing atrophic maculae (a and b). Autofluorescence (AF) shows loss of signal centrally corresponding to atrophy with a surrounding band of increased AF within the arcades (c and d. optical coherence tomography (OCT) imaging showing the temporal extent of the loss of the ellipsoid zone demarcated by yellow arrows. e and f. Images (g to l) showing increased atrophy after a 4-year interval. Optos imaging shows increased bilateral macular atrophy (g and h). AF imaging shows extension of patchy AF surrounding the central atrophy with a small preserved foveal remnant (i and j). OCT showing further extension of the loss of the ellipsoid zone demarcated by the yellow arrows