Fig. 4: Optical coherence tomography (OCT) findings for four patients with Leber’s congenital amaurosis (LCA) caused by RPGRIP1 mutations.

a The lamellar structure in the foveal area is retained in all four patients. In cases 1–3 (EYE20, 64 and 65), the ellipsoid zone is extinguished. In case 4 (EYE55), the ellipsoid zone is retained. Arrows indicate the lamina corresponding to the inner nuclear layer (INL), outer plexiform layer (OPL), outer nuclear layer (ONL) and ellipsoid zone (EZ). b OCT for case 1 (EYE20) shows changes in the macular structure with an increase in age. Although a continuous ONL with a distinct adjacent lamellar architecture is detectable in the foveal area on OCT performed at 7 years of age, ONL is not distinct in the perifoveal area (arrows) on OCT performed at 11 years of age. OCT indicates slight ONL thinning between 7 and 11 years of age. In OCT for case 4 (EYE55), the ellipsoid zone is maintained at 9 years of age but is blurred at 17 years of age (arrowheads)