Microscopy from Scientific Research

Four individuals with advanced disease (P19 with variants in AP5M1, age 59; P4 with variants in AP5Z1, age 62; P3 with variants in AP5Z1, age 53; and P21 with variants in AP5B1, age 70) with variable degree of central chorioretinal atrophy. In each panel, the top row shows color or pseudocolor fundus images, the middle row shows fundus autofluorescence images (FAF), and the bottom row shows optical coherence tomography (OCT) scans. OCT images were not available for individual P5 from family 3. Images are ordered according to the subjects age. OD, right eye; OS, left eye; yo, years old.

DOI