| 본문 : Leber's hereditary optic neuropathy (LHON) is characterized by bilateral painless subacute central vision loss. Most LHON cases are caused by three mutations in mitochondrial DNA (mtDNA), m.3460G>A, m.11778A>G, or m.14484T>C. Additional 15 primary mutations and 18 candidate mutations have been reported. MtDNA m.3472T>C mutation is classified as a candidate mutation in the Mitomap database. Here, we found a patient harboring m.3472T>C mutation which had been reported in two studies of LHON , qualifying the criteria of primary LHON mtDNA mutations. |