Leber's hereditary optic neuropathy misdiagnosed as optic neuritis and Lyme disease in a patient with multiple sclerosis

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A 28-year-old Caucasian man developed sudden painless vision loss in the right eye. He was diagnosed with optic neuritis. MRI showed white matter lesions consistent with multiple sclerosis (MS), but no optic nerve enhancement. Eight months later, the left eye was affected in the same manner. Examination showed right optic atrophy and apparent left optic disc swelling. Workup revealed positive Lyme IgG. Differential diagnosis included optic neuritis and Lyme optic neuropathy, and he was treated with intravenous steroids, intravenous immunoglobulin, plasmapheresis and intravenous ceftriaxone without improvement. Neuro-ophthalmology consultation led to identification of pseudo-optic disc oedema, and Leber's hereditary optic neuropathy (LHON) was suspected and confirmed by genetic testing. LHON may occur in association with MS, and should be considered in patients with MS with vision loss atypical for optic neuritis. This is especially important as new treatments for LHON (including gene therapy) are currently undergoing clinical trials.

Original languageEnglish (US)
Article numbere227109
JournalBMJ Case Reports
Issue number1
StatePublished - Dec 1 2018



  • multiple sclerosis
  • neuroopthalmology
  • visual pathway

ASJC Scopus subject areas

  • Medicine(all)

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