Bilateral optic neuropathy with mitochondrial DNA 9804 mutation detected by non-isotopic single-strand conformational polymorphism

Abstract

The patient in this study was a 46-year-old man with bilateral optic neuropathy following head trauma. Psychological visual loss was initially suspected and nutritional optic neuropathy was subsequently considered. Mitochondrial DNA analysis was conducted on all primary mutations of Leber’s hereditary optic neuropathy using non-isotopic single-strand conformational polymorphism (SSCP). Abnormal homozygous band shifts were detected in SSCP of the cytochrome c oxidase subunit III region. Direct sequencing indicated a G-to-A substitution at position 9804. The point mutation is a missense mutation that causes alanine to be replaced by threonine at codon 200 in cytochrome c oxidase subunit III (CO3). This is the first Japanese case and the fourth published case of bilateral optic neuropathy possessing the nt 9804 mutation.