Figure 5. TLR areas are associated with localized cone loss, compared to non-TLR areas in carriers of RPGR-associated RP.
Shown is a region of temporal retina from a healthy control (MM_0136), and two RPGR-associated RP carriers with a highlighted region of interest (ROI) (square, top row) in the nasal and temporal retina, respectively (MM_0010 and MM_0048) containing both TLR and non-TLR regions. These ROIs in the top row NIR reflectance images correspond to the location of the confocal AOSLO images below. The squares correspond to either regions of photoreceptor mosaic outside the TLR regions or to photoreceptor regions within the TLR. Scale bar is 100 μm. Adjacent regions in the non-carrier female show virtually no difference in cone densities. Conversely, in RPGR-associated RP carriers the TLR regions are associated with decreased cone densities and increased rod outer segment brightness.