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. 2002 Jan 2;99(1):473–478. doi: 10.1073/pnas.022533099

Figure 2.

Figure 2

Microscopy of normal and NR2E3 mutant human retinas. The retinal pigment epithelium is indicated by (R). Bar indicates 50 μm in A–C and E and 25 μm in D. (A) Central macula of retina with NR2E3 R311Q mutation. Glycol methacrylate section stained with Richardson's methylene blue/azure II. Photoreceptors (P) are reduced to 2–3 layers of nuclei (normal is 6–8 layers). Outer segments are short to absent. The inner nuclear layer (N) varies in thickness, and the inner plexiform layer (I) is interrupted by a cluster of cells and radial fibers (between arrows). Ganglion cells (arrowhead) are reduced to a discontinuous layer (normal is 6–8 layers), the nerve fiber layer (F) is gliotic, and an epiretinal membrane (E) is present. (B–E) Immunofluorescence images. The RPE (R) contains gold autofluorescent lipofuscin granules. The nuclei have been stained (blue) with 4′,6′-diamidino-2-phenylindole in B, D, and E. (B) Central part of normal human retina processed for immunofluorescence with mAb 7G6 (green), which labels the cytoplasm of all cones, and anti-S cone opsin (red), which labels four S cone outer segments. (C) Central part of ESCS retina labeled with mAb 7G6 (green), specific for cone cytoplasm, and anti-S cone opsin (red). Note multilayered cones (c) with outer segments (arrowheads) positive for S cone opsin. Most cones are double-labeled (gold) and have S cone opsin reactivity (red) in the surface membranes of the inner segments and cell bodies. A few 7G6 positive cones (arrows) are S cone opsin negative. (D) The NR2E3 mutant retina labeled with anti-S cone opsin (green) (mAb OS-2, which labels S cone outer segments, indicated by *) and anti-L/M cone opsin (red). Note opsin delocalization to the inner segments (I) of the L/M cones and one cone outer segment (gold, arrowhead) that is positive for both L/M and S cone opsin. P, photoreceptor nuclei. (E) Low magnification micrograph showing loss of autofluorescent RPE (gold) and S-cones (green) from the periphery (right side) of the macula. The inner plexiform layer (I), labeled (red) with anti-SV2, is interrupted by S cones and their axons (arrowheads). R, edge of RPE.