Fig. 3: Visualization of the photoreceptor, RPE, choriocapillaris complex in choroideremia.
a AO images acquired at the fovea (eccentricity = 0.0 mm) showing foveal cone photoreceptors (PR), RPE cells, and the choriocapillaris (CC) microvasculature. Images from an affected male, a female carrier, and a healthy eye are shown. Note that subject A4L has a relatively well-preserved island of RPE cells at the fovea in which RPE cells are less enlarged compared to other affected males; outside of the fovea, RPE cells still form a contiguous monolayer but are dramatically enlarged (see Fig. 5a). Scale bars: PR, 10 µm; RPE, 50 µm; CC, 100 µm. b Box plots of photoreceptor spacing, RPE spacing, and choriocapillaris flow void diameters show that the RPE is the most severely affected layer of these three layers (center line: median; box limits: upper/lower quartiles; whiskers: 1.5× interquartile range; points beyond the whiskers: outliers). Data corresponding to the subjects shown in (a) can be determined using the legend. Measurements of photoreceptors, RPE, and choriocapillaris performed in choroideremia were compared to normative histologic data43, normative in vivo RPE data40, and normative in vivo choriocapillaris data36, respectively. For subjects who had two visits, only data from the first visit was used for this analysis. c Longitudinal imaging acquired at the same location and co-registered across visits revealed the degree to which photoreceptors, RPE, and choriocapillaris changed from one visit to the next (time between visits varied between 2 and 12 months; Supplementary Table 1). The largest changes were observed in the RPE layer, further corroborating our finding that the RPE layer is the most disrupted layer out of these three layers.
