Figure 2

FAF imaging showing generalized increase in lipofuscin accumulation proportional to the severity of the disease. Normal FAF is seen in the right eye of the unaffected 9-year-old sibling (A). FAF imaging demonstrates constriction of a small perifoveal hyper-fluorescent ring in the right eye of a 12-year-old (B), a 16-year-old (C) and a 51-year-old (D) D190N/+ patient. Autofluorescence is elevated inside the ring of the surviving retina and less intense outside of the ring. Compared to the wt mice (E, G), D190N/+ mutant mice show generalized hyperfluorescence and bright dots that increase in intensity and number as the mice age (F, H). Disease severity is highly correlated with increased overall FAF in mice. In (B-H), the reference bar at the top enables intensity comparison.