Multicenter study on the frequency of three primary mutations of mitochondrial DNA in Japanese pedigrees with Leber's hereditary optic neuropathy: comparison with American and British counterparts
K. Yamada et al., Multicenter study on the frequency of three primary mutations of mitochondrial DNA in Japanese pedigrees with Leber's hereditary optic neuropathy: comparison with American and British counterparts, NEURO-OPHTH, 22(3), 1999, pp. 187-193
We retrospectively evaluated the incidence and clinical characteristics of
three primary mutations in mitochondrial DNA at nucleotide positions (np) 3
460, 11778, and 14484 in 142 Japanese patients (125 families) with Leber's
hereditary optic neuropathy (LHON). Data was collected on LHON patients at
four institutions in Japan. Mutations were identified at np 3460 in 5/125 (
4%) families, at np 11778 in 114/125 (91%) families, and at np 14484 in 6/1
25 (5%) families. Thus, Japanese patients with LHON exhibited a high incide
nce of the 11778 primary mutation. Except for a family history of optic atr
ophy, the clinical features of Japanese patients with these three mutations
were similar to those reported for 114 patients (75 families) in the USA a
nd 112 patients (79 families) in the UK, despite their different mtDNA back
grounds. The final visual outcome was better in the Japanese patients with
the 3460 or 14484 mutation than the 11778 mutation. The proportion of Japan
ese patients with either the 3460 (20%) or the 14484 (33%) mutation and a f
amily history of optic atrophy was lower than that reported in either Ameri
can or British patients with LHON.