Figure 2. Dysmorphology in the retina of LCA5. A: Cross-sectional OCT images across the horizontal meridian are shown for a normal 6-year-old subject (upper) and LCA5, P1 (middle) and P2 (lower). Layers or structures are labeled as individual or combined laminae. IPL+RGC, inner plexiform and retinal ganglion cell layers; INL, inner nuclear layer; ONL, outer nuclear layer; OLM, outer limiting membrane; IS, inner segments; OS, outer segments; RPE, retinal pigment epithelium. N: Nasal, T: Temporal retina. B: Central scans are shown for a normal subject, P1, P2, and an RP patient with a residual and abnormally reduced central island of retinal structure. ONL layer is highlighted in blue. C: Photoreceptor nuclear layer thickness horizontally across the central 4 mm of retina is graphically displayed for a group of normal subjects (gray represents mean±2SD; n=26; ages 5–58 years), 19 patients with retinal degeneration but not LCA5, and the LCA5 data. For comparison with LCA5 P1 and P2 with light perception (LP) vision, the ONL data from the patients with retinal degeneration are color-coded by their visual acuity levels. D: Magnified (1.2 mm across) horizontal cross-sections through the fovea of LCA5 P1 and P2 are compared to those of the 6-year-old normal subject (left panel) and an RP patient (right panel) with similarly reduced foveal ONL. E: Cross-sectional, 0.9 mm-long, extramacular images from LCA5 P1 and P2 are compared to a normal subject. Longitudinal reflectivity profiles (LRP, white traces) overlaid on the scans show signal features corresponding to the different retinal laminae. The ONL is highlighted (blue) next to the corresponding LRP signal feature. LCA5 P1 (left) at 7 to 7.8 mm in nasal retina shows remnants of ONL, retained retinal lamination and a thickened inner retina (bracketed to the left of the scans) compared to the normal subject at the same eccentricity. Scans from 7 mm in temporal retina from both LCA5 patients show complete loss of ONL signal and retinal disorganization with a bilaminar appearance of the LRPs.