Figure 2.
Multimodal imaging. Adaptive optics scanning light ophthalmoscope (AOSLO) montages superimposed on fundus photographs with spectral domain optical coherence tomography (SD-OCT) overlay. SD-OCT photoreceptor outer segment layer (green arrows) appears healthy in unaffected sibling IV-4 and patient IV-2, and shows a subtle granular appearance in patient IV-5. Yellow dotted lines indicate locations of SD-OCT cross sections. Yellow rectangles indicate SD-OCT sections shown at higher magnification on the right. Red ‘+’ indicates foveal centre. White squares indicate AOSLO areas shown at higher magnification in figure 3.