J Korean Neurol Assoc.  1993 Sep;11(3):451-458.

Hereditary Optic Atrophy, Neural Deafness, and Peripheral Neuropathy

• Lee GH
• Na DL
• Park SH

Abstract

The triad of bilateral optic atrophy, hearing deficit, peripheral neuropathy is knoun to be a rare disorder. The authors experienced eight patients in three generations of the same family with this triad of deficits. The disorder developed since their childhood and the course was slowly progressive. Nerve conduction study suggested peripheral neuropathy and sural nerve biopsy was compatible with demyelinating neuropathy, as there were reduction of myelinated nerve fibers in number and focal onion-bulb formation. The mode of inheritance of the family seems to be autosomal dominant, with relatively high penetrance. In many respects, the disorder resembles the cases reported by Sylvester(1958) and Iwashita et al.(1970). But still we do not know the exact etiology of this disorder.

MeSH Terms

Biopsy
Deafness*
Family Characteristics
Hearing
Humans
Nerve Fibers, Myelinated
Neural Conduction
Optic Atrophies, Hereditary*
Optic Atrophy
Penetrance
Peripheral Nervous System Diseases*
Sural Nerve
Wills