Figure 1. Retinal imaging in dominant RPE65 disease. A, B, C, G, L, O: Color fundus photographs demonstrate extensive chorioretinal atrophy in patients 1.1, 1.2, and 2.2, with foveal yellow lesions
in patient 2.3. D, H, M, P: Fundus autofluorescence (FAF) imaging demonstrates extensive loss of autofluorescence in patients 1.2 and 2.2 with scalloped
regions of preserved retina and RPE, and increased autofluorescence of foveal deposits in patient 2.3. E, I, N, Q: Optical coherence tomography (OCT) through the fovea demonstrates the loss of outer nuclear and photoreceptor layers for
patients 1.2 and 2.2, and dome-shaped deposits extending from the RPE to the outer retina for patient 2.3. F, J: OCT through the preserved retina and RPE in patients 1.2 and 2.2 with frequent outer retinal tubulation. K: OCT through the RPE hypertrophy in patient 2.2. Arrowheads highlight the comparative regions of the preserved retina and
RPE. Stars highlight the comparative area of RPE hypertrophy.