Histological Correlates of In-Life Imaging Results in RPE65 Mutant Eyes
(A and B) Schematic representation of the retinal features of a representative eye overlaid with the localization of a block of serial sections (A, yellow parallel lines) or ONL thickness topography (B, pseudocolor image). The red oblique line represents the histologic section shown (A) or an optical coherence tomography (OCT) scan (B) registered to assess the same retinal region. The white circles superimposed on the red line are the corresponding points shown histologically (A, lower row) or in the OCT scan (B, lower row). The graphs in (A) and (B) represent the rows of nuclei counted on histologic sections (A) or the ONL thickness determined by OCT (B). INL, inner nuclear layer; ONL, outer nuclear layer. (C) Point-by-point correlation between ONL thickness and rows of nuclei determined from 2,079 co-registered loci across 8 mutant eyes at 9.4–10.6 years of age (Table S1).