| Main clinical features
|
optic atrophy, deafness, and polyneuropathy, early-onset hearing loss, lower leg weakness and atrophy beginning in childhood, and progressive loss of vision beginning with optic atrophy at about age 20 years
hearing loss characterized as sensorineural and prelingual, progressive visual impairment from optic neuropathy at 10 years of age and peripheral neuropathy, with mixed features of segmental demyelination and axonal loss
without mental retardation or recurrent infections |