Hereditary Optic Atrophy, Neural Deafness, and Peripheral Neuropathy

J Korean Neurol Assoc > Volume 11(3); 1993 > Article

Journal of the Korean Neurological Association 1993;11(3): 451-458.

유전성 시신경 위축과 난청 및 말초신경병을 보이는 가계의 증례보고

이근호, 나덕렬,박성호

서울대학교 신경과. 보라매병원 신경과.

Hereditary Optic Atrophy, Neural Deafness, and Peripheral Neuropathy

Geun-Ho Lee, M.D., Duk-Lyul Na, M.D., Seong-Ho Park, M.D.

Department of neurology , College of medicine, Seoul National University, Department of Neurology, Boramae City Hospital

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.