Leber's hereditary optic atrophy

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Leber's hereditary optic neuropathy is a rare disease which presents with rapid, progressive optic neuropathy, classically in young men between 20 and 30 years of age, but occasionally in women. Blurred vision and loss of central vision appear in one eye, with the fellow eye affected within days, weeks or months.

Diagnosis is by documenting a hyperaemic and oedematous disc that does not leak during fluorescein injection in spite of the many dilated capillaries observable on the the disc surface. Optic atrophy develops but sight is never lost completely.

Last reviewed 09/2021