Mitochondrial DNA analysis of Leber's hereditary optic neuropathy

Y. Hiida, Y. Mashima, Y. Oguchi, Y. Uemura, J. Kudoh, K. Sakai, N. Shimizu

研究成果: Article査読

5 被引用数 (Scopus)


A mitochondrial DNA (mtDNA) mutation associated with Leber's hereditary optic neuropathy (LHON) was recently observed. The presence or absence of the mutation was analyzed in 10 Japanese patients whose clinincal course and fundus findings were consistent with LHON. Four of them had at least one maternally related individual who also had bilateral optic atrophy, and were diagnosed as 'definite LHON'. The other 6 cases lacked any record of optic nerve disease in maternally related individuals, and were diagnosed as 'possible LHON'. We found the mutation at the SfaNI site of mtDNA in 3 out of the former 4 cases, and in 5 out of the latter 5 cases. This result demonstrates the clinical and diagnostic importance of mtDNA analysis, especially with possible cases of LHON, and suggests that an alternative mutation associated with LHON is also present in Japanese patients.

ジャーナルJapanese Journal of Ophthalmology
出版ステータスPublished - 1991

ASJC Scopus subject areas

  • 眼科学


「Mitochondrial DNA analysis of Leber's hereditary optic neuropathy」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。