ArticleFrontiers in neurology2024
Recognizing Leber's Hereditary Optic Neuropathy to avoid delayed diagnosis and misdiagnosis.
Article in Frontiers in neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Persistent diffuse photoreceptor disorganization: further evidence with potential associations, long-term clinical course and therapeutic responsiveness of a new clinical entity.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- MOG Antibody-Associated Optic Neuritis Masquerading as Traumatic Optic Neuropathy Following Cranial Trauma: A Case Report.Clinical case reports · 2026Article
- A case report of atypical optic neuritis.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2026Article
- 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
- Early Macular Ganglion Cell Loss in Leber Hereditary Optic Neuropathy, an Optical Coherence Tomography Biomarker to Differentiate Optic Neuritis.Journal of clinical medicine · 2025Article
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8 authors.
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Abstract
Leber's Hereditary Optic Neuropathy (LHON) is a maternally inherited optic nerve disease primarily caused by mutations in mitochondrial DNA (mtDNA). The peak of onset is typically between 15 and 30 years, but variability exists. Misdiagnosis, often as inflammatory optic neuritis, delays treatment, compounded by challenges in timely genetic diagnosis. Given the availability of a specific treatment for LHON, its early diagnosis is imperative to ensure therapeutic appropriateness. This work gives an updated guidance about LHON differential diagnosis to clinicians dealing also with multiple sclerosi and neuromyelitis optica spectrtum disorders-related optic neuritis. LHON diagnosis relies on clinical signs and paraclinical evaluations. Differential diagnosis in the acute phase primarily involves distinguishing inflammatory optic neuropathies, considering clinical clues such as ocular pain, fundus appearance and visual recovery. Imaging analysis obtained with Optical Coherence Tomography (OCT) assists clinicians in early recognition of LHON and help avoiding misdiagnosis. Genetic testing for the three most common LHON mutations is recommended initially, followed by comprehensive mtDNA sequencing if suspicion persists despite negative results. We present and discuss crucial strategies for accurate diagnosis and management of LHON cases.
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