Progressive visual loss associated with peculiar disc swelling

A patient with progressive visual loss associated with swelling of the disc presented the classic clinical picture of Leber's optic neuropathy. The hereditary patterns, diagnostic characteristics and natural history of the disease are discussed. Although there is no efficacious treatment for Leber's optic neuropathy available at this time, correct diagnosis is important for purposes of genetic counselling and avoidance of unnecessary neuroradiologic and surgical procedures.