We performed a histopathologic study of whole globes obtained post mortem from a patient with well-documented, vitamin B6-responsive gyrate atrophy. The retina in the posterior pole had focal areas of photoreceptor atrophy with adjacent retinal pigment epithelial hyperplasia. An abrupt transition from the near normal retina to a zone of near total atrophy of the retina, retinal pigment epithelium, and choroid was present in the fundus midperiphery. Electron microscopic examination disclosed abnormalities of the mitochondria of the corneal endothelium and the non-pigmented ciliary epithelium. Similar, but less severe, mitochondrial abnormalities were present in the photoreceptors.
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