Leber hereditary optic neuropathy associated with use of ephedra alkaloids

Abstract

Purpose We report a case of Leber hereditary optic neuropathy in a patient who was using ephedra alkaloids at the time of onset of his optic neuropathy. Design Observational case report. Methods Bilateral, painless, progressive loss of vision developed in a 30-year-old man. He reported a one pack-per day, 10-year history of tobacco use and drinking 18 to 24 cans of beer per day as well as the use of a dietary supplement containing ephedra and caffeine before the onset of vision loss. Results We report the bilateral, progressive, painless loss of vision in a patient with bilateral cecocentral scotomas and optic nerve pallor. Mitochondrial DNA testing confirmed a Leber hereditary optic neuropathy mutation site at loci 11778. Conclusions We propose that our patient’s use of a dietary supplement containing ephedra alkaloids played an additive role to his tobacco and alcohol use in causing stress to the already abnormal mitochondrial function, and thereby contributed to the onset of his optic neuropathy. We recommend that patients and families with known Leber hereditary optic neuropathy should be asked about the use of over-the-counter drugs or supplements, and it may be prudent to advise patients against using such dietary supplements.