Aims/Background

This article reviews the literature on point mutation of mitochondrial DNA (mtDNA) among Japanese and the authors' research data on pupil reaction in patients with Leber's hereditary optic neuropathy (LHON). Among Japanese, a higher frequency (80-90%) of point mutation at nucleotide position 11778 of mtDNA was found; other point mutations found were 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 maintained even when vision was reduced. W cells in the retina may be preserved or less damaged, even when the degenerative process progresses in both X and Y cells. Possible treatment is also described.