✦ LIBER ✦

Leber's hereditary optic neuropathy among Japanese

✍ Scribed by Satoshi Ishikawa; Yoshiaki Ichibe; Junko Yokoe; Masato Wakakura

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 465 KB
Volume: 18
Category: Article
ISSN: 0148-639X
DOI: 10.1002/mus.880181418

No coin nor oath required. For personal study only.

✦ Synopsis

This article reviews the literature on point mutation of mitochondria1 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.

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