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Purpose
To describe the radiologic findings, diagnostic patterns, and treatment approaches in Leber hereditary optic neuropathy (LHON), and to determine how neuroimaging may help support earlier diagnosis in patients with vision loss.

Methods
An individual participant data meta-analysis using PRISMA guidelines was performed. English-language case reports and case series published from 2000 to 2025 that included LHON cases with neuroimaging descriptions were reviewed. Data collected included age, sex, imaging modality and findings, ophthalmologic examination results, and mitochondrial genetic mutations. These findings were then coded into categories and analyzed statistically to look for frequencies, demographic associations, and co-occurrence of imaging abnormalities.

Results
A total of 137 genetically confirmed LHON cases from 120 publications were included. Patients ranged from 2 to 81 years old, and most were male. The most common MRI finding was T2 hyperintensity of the optic nerves and/or optic chiasm. Other reported findings included post-contrast enhancement, optic chiasm atrophy, and optic chiasm enlargement. These abnormalities were often reported together, suggesting a pattern from acute inflammatory-appearing changes to chronic atrophy. The study also found that delayed diagnosis was common, and many patients were initially misdiagnosed, often as having optic neuritis.

Conclusion
LHON can show recognizable MRI abnormalities, especially T2 hyperintensity of the optic nerves and/or chiasm, sometimes with enhancement or chiasmal size changes. Because early diagnosis may help preserve vision and guide timely treatment, radiologists should consider LHON when these imaging findings appear in the appropriate clinical context.