Leber's hereditary optic neuropathy with intracranial arteriovenous malformation: a case report

We reported a patient with Leber's hereditary optic neuropathy (LHON) with an intracranial arteriovenous malformation (AVM). Genetic analysis of this patient revealed a point mutation in mitochondrial DNA (mtDNA) at nucleotide position 11,778 in the ND4 subunit of complex I. Although the relationship between intracranial AVM and mtDNA mutations remains uncertain, some patients with intracranial AVM may be associated with mitochondrial abnormality. Further study is necessary to confirm whether the above conditions are coincidental or closely interrelated.