High-Resolution Imaging of Patients with Bietti Crystalline Dystrophy with CYP4V2 Mutation
SD-OCT and IR images of BCD patients. IR ((a), (c), and (e)) and SD-OCT ((b), (d), and (f)) images from Case 1 ((a), (b)), Case 2 ((c), (d)), and Case 3 ((e), (f)) are shown. The green horizontal lines in the IR images indicate location of scan line to obtain the SD-OCT images. The RPE and the outer layers of the retina were extensively damaged in all cases. The outer nuclear layer (ONL) of all patients is detectable only in the center of the macular region, but the layer is discontinuous at the peripheral macular region. In Case 2, the ONL is detectable only in the very small region at the fovea. The crystals observed in IR images are seen as brightly reflective plaques located on the RPE layer (arrows). These brightly reflective plaques were found in the areas where the ONL was preserved.