Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant

Hagemoser et al. (1989) reported 2 unrelated families with a disorder characterized by optic atrophy, hearing loss, and peripheral neuropathy. In the first family, there were 13 affected members spanning 4 generations with an instance of male-to-male transmission. Most patients had onset of bilateral hearing loss and visual loss with optic atrophy by school-age. Onset of neurologic features occurred only in a subset of patients as adults, and consisted primarily of decreased vibratory sensation and hyporeflexia in the lower limbs. Nerve conduction velocities suggested an axonal sensory and motor neuropathy. The second family had 3 affected members in 3 generations. Optic atrophy was recognized in the first decade of life. The proband had visual loss at school age and hearing loss by age 13 years. Decreased distal sensation developed as an adult. Hagemoser et al. (1989) concluded that this disorder showed autosomal dominant inheritance with initial presentation of optic atrophy.

See 311070 and 258650 for an X-linked and a possible autosomal recessive form of the disorder, respectively.