PMC

Location of 33 ABCA4 pathogenic variants in 14 patients with peripheral pigmented retinal lesions.

Development of two pigmented lesions over time in a 14 year-old. Top left and bottom left, wide-field fundus photographs and wide-field fundus autofluorescence showing the pigmented lesions (black arrows) in the temporal and inferior periphery. Top right and bottom right, photographs of the same patient at two-year follow-up showing development of two new lesions (white arrows), including one temporally that is predominantly hyperautofluorescent with a hypoautofluorescent center.

Ultra wide-field Optos fundus imaging showing peripheral pigmented retinal lesions. Top left, multiple confluent pigmented lesions along the advancing border of peripheral retinal flecks in a 30 year-old. Top right, geographic pigmented lesion in an 18 year-old. A second stellate shaped lesion is visible in the far inferotemporal periphery. Bottom left, single pigmented lesion in a 15 year-old. Bottom right, ovoid pigmented lesion in the inferotemporal periphery of a 16 year-old.

Development of a pigmented lesion in a 12 year-old. Top left and bottom left, wide-field fundus photographs and wide-field fundus autofluorescence showing a flat, pigmented lesion in the superotemporal retina (black arrow) and diffuse retinal flecks extending past the vascular arcades. Top right and bottom right, photographs of the same patient eye at two-year follow-up showing development of a new lesion (white arrow) with expansion of surrounding peripheral retinal flecks.