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Ocular histopathologic study of a patient with the T 8993-G point mutation in Leigh's syndrome.
Hayashi N, Geraghty M T, Green W R
OphthalmologyJul 200017 citationsCase Report
Ocular histopathology in Leigh's syndrome (T 8993-G mutation) revealed retinal nerve fiber/ganglion cell thinning and widespread mitochondrial abnormalities. This highlights mitochondrial dysfunction's role in optic neuropathy in such patients.