Repetitive brainstem lesions in mitochondrial DNA 11778G>A mutation of Leber hereditary optic neuropathy

Leber hereditary optic neuropathy (LHON), a maternally inherited disorder, is typically characterized by painless subacute bilateral visual loss in early adulthood.Most LHON patients carry mitochondrial DNA (mtDNA) point mutations affecting complex I of the respiratory chain, including 3460G > A, 11778G > A, and 14448T > C mtDNA mutations.Some LHON cases reportedly present extraocular symptoms, indicating involvement of central nervous system (CNS).We herein report a case with 11778G > A mtDNA mutation presenting with repetitive brainstem lesions without visual impairment.