ArticleBMJ case reports2018
Leber's hereditary optic neuropathy misdiagnosed as optic neuritis and Lyme disease in a patient with multiple sclerosis.
Article in BMJ case reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Genetic Features and Clinical Heterogeneity of Leber Hereditary Optic Neuropathy in Adolescent and Adult Patients: A Case Series on Arab Patients.International medical case reports journal · 2026Article
- Sterile inflammation in LHON: mitochondrial stress, innate immune signaling, and implications for AAV gene therapy.Frontiers in immunology · 2026Review
- Mitochondrial-Immune Overlap in Leber Hereditary Optic Neuropathy: A Case Report and Lessons Learned.Reports (MDPI) · 2025Article
- Development of a deep learning model to distinguish the cause of optic disc atrophy using retinal fundus photography.Scientific reports · 2024Article
- A Comprehensive Review of Leber Hereditary Optic Neuropathy and Its Association with Multiple Sclerosis-Like Phenotypes Known as Harding's Disease.Eye and brain · 2024Review
- Leber's hereditary optic neuropathy following unilateral painful optic neuritis: a case report.BMC ophthalmology · 2020Article
- Fishing in the Cell Powerhouse: Zebrafish as A Tool for Exploration of Mitochondrial Defects Affecting the Nervous System.International journal of molecular sciences · 2019Review
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Authors and funding
1 author.
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Abstract
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.
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