Ethambutol is utilised in the treatment of Mycobacterium avium and Mycobacterium tuberculosis infection. The authors report two siblings who developed the adverse effect of ethambutol-induced optic chiasmopathy, with recovery following cessation of ethambutol. Discussion explores potential genetic predisposition to development of this condition and its resolution. Ethambutol optic neuropathy (EON), Leber's hereditary optic neuropathy (LHON), and other optic neuropathies of mitochondrial origin share a common pathophysiology. Consequently, the authors postulate treatments utilised in LHON, including vitamin B supplementation and idebenone, may have benefit in EON. This article presents concepts for further research, suggesting a potential genetic susceptibility to EON and its treatment.
Keywords: Ethambutol; Leber’s hereditary optic neuropathy; mitochondria; optic chiasmopathy; optic neuropathy.