Isolated Hereditary Optic Neuritis/Neuropathy

Leber's hereditary optic neuropathy is a mitochondrial hereditary optic neuropathy that usually affects young males but may occur at any age and in males or females. The clinical features are usually acute bilateral simultaneous or sequential visual loss with a central acuity and central visual field loss. Mitochondrial DNA testing of the blood may demonstrate the mutation. Because the disease is transmitted via mitochondria, affected females pass the mutation to all of their offspring, while affected males cannot transmit the disorder. Patients may exhibit peripapillary telangiectasias, and the disc usually has an acute appearance of pseudoedema. Although vitamin supplementation has been recommended, there is no effective therapy. Pair with 95_13 and 95_15.