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Figure 3 Bilateral optic atrophy and sural nerve biopsy of patient AII-2 Bilateral optic atrophy and sural nerve biopsy of patient AII-2 (A) Red-free photographs.

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Presentation on theme: "Figure 3 Bilateral optic atrophy and sural nerve biopsy of patient AII-2 Bilateral optic atrophy and sural nerve biopsy of patient AII-2 (A) Red-free photographs."— Presentation transcript:

1 Figure 3 Bilateral optic atrophy and sural nerve biopsy of patient AII-2
Bilateral optic atrophy and sural nerve biopsy of patient AII-2 (A) Red-free photographs of the optic discs of patient AII-2 show mild temporal pallor of both optic discs. (B) Optical coherence tomography measurements of the retinal nerve fiber layer thickness around both optic discs of patient AII-2 confirm significant thinning in the temporal quadrants consistent with an optic neuropathy. (D) Semi-thin resin section of the sural nerve, stained with methylene blue azure-basic fuchsin, shows a fascicle with severe loss of large (red arrowhead) and small myelinated fibers with no apparent active axonal degeneration and minimal regeneration (scale bar = 25 μm). (E) Electron microscopy shows frequent denervated Schwann cell profiles and bands of Büngner (blue arrowheads) in keeping with widespread fiber loss. The mitochondria (yellow arrowheads) show no apparent pathology (scale bar = 1 μm). Alejandro Horga et al. Neurol Genet 2019;5:e322 Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

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