Ethambutol-induced conversion in Leber's hereditary optic neuropathy: 6 years follow-up

OPA1 Mutation Presenting as Ethambutol-Induced Optic Neuropathy

“…The following pathogenic genetic variations have been reported among patients with EON: 12 patients with Leber hereditary optic neuropathy, 24 patients with OPA1, and a single patient with CMT2A2 . [ 1 2 3 4 ] This case exemplifies the conundrums in diagnosis and management of vision impairment in a patient with CNS TB. We also report a novel OPA1 mutation, which might have been the underlying risk factor.…”