Figure 2.

Structural–functional relationships in patients included in the study.Notes: (A) Color fundus images of the right eye of two of the patients. (B) Goldmann kinetic perimetry with large targets (V-4e and IV-4e) in untreated patients demonstrating limited extent of the visual fields (to the central 20–40°) and no perception of smaller targets. (C) 7 mm-long, non-straightened, SD-OCT cross-sections along the vertical (VR21) and horizontal (VR25) meridian through the fovea in two patients. Nuclear layers are labeled (ONL, outer nuclear layer, INL, inner nuclear layer, GCL, ganglion cell layer). Visible outer photoreceptor/RPE sublaminae are labeled (ELM, external limiting membrane; EZ, inner segment/outer segment ellipsoid region) following conventional terminology. T, temporal; N, nasal; I, inferior, S, superior retina. Calibration bar to the bottom left. The images illustrate severe foveal abnormalities and the asymmetric extent of the degree photoreceptor preservation around the foveal center (T > N, S > I) at this stage in patients from this family with RPE65-LCA. Asterisk denotes points to severe foveal ONL thinning with approximation of the EZ band to the RPE (VR21) or interruption (VR25). Bar above the scan show psychophysically determined cone (light-adapted, white stimulus). Dotted line above bar defines lower limit (mean – 2SD) of sensitivity for control subjects. Images illustrate structural functional dissociation with severe retinal dysfunction contrasting with relatively preserved central retinal structure. Adapted with permission from Maguire AM, Bennett, J, Aleman E, et al. Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy. Mol Ther. 2021;29(2):442-463.⁵