Fig. 5: Detection of RPE cell polymegathism using late phase ICG imaging.

a Late phase ICG image acquired using a commercially available Heidelberg scanning laser ophthalmoscope (SLO) showing widespread enlarged RPE cells in an affected male. b Zoom of the white square in (a), contrast adjusted to show cellular detail. c AO-ICG image of the same region as (b). Many of the cells observed in (c) can be detected in (b). In the lower-left corner of (b and c), the RPE cells are smaller than those in the upper-right corner, but individual RPE cells are still visible. d Heidelberg SLO image from a female carrier. Numerous hyperfluorescent enlarged RPE cells can be observed, especially near the left edges of the image. e, g Contrast-adjusted zoom of white rectangles. f, h AO-ICG images corresponding to (e and g) showing that the heterogeneous pattern of fluorescence captured using the Heidelberg SLO matches the pattern imaged using AO-ICG. These side-by-side comparisons illustrate that individual enlarged RPE cells can be detected using conventional imaging, even without AO. a, d The green ‘x’ denotes the fovea. Scale bar, 1 mm. b, c, e–h Scale bar, 500 µm.