LEBERS HEREDITARY OPTIC NEUROPATHY AMONG JAPANESE

This article reviews the literature on point mutation of mitochondrial DNA (mtDNA) among Japanese and the authors' research data on pupil re action in patients with Leber's hereditary optic neuropathy (LHON). Am ong Japanese, a higher frequency (80-90%) of point mutation at nucleot ide position 11778 of mtDNA was found; other point mutations found wer e at nucleotide positions 3460, 14484, 13708, 7444, and 3394. Although pupil reaction to light stimulus is usually defective in all types of optic neuropathy, in patients with LHON the reaction was well maintai ned even when vision was reduced. W cells in the retina may be preserv ed or less damaged, even when the degenerative process progresses in b oth X and Y cells. Possible treatment is also described. (C) 1995 John Wiley and Sons, Inc.