1991•PubMedRequires access
Mitochondrial DNA analysis of Leber's hereditary optic neuropathy.
Yoshiki Hiida, Yukihiko Mashima, Yoshihisa Oguchi, Y Uemura, Jun Kudoh, Kazuhisa Sakai, Nobuhiko Shimizu
Open publisher page 6 citations
Abstract
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 clinical 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 6 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.