T2 hyperintensity frequently reported in patients with Leber Hereditary Optic Neuropathy
Key Takeaways
- T2 hyperintensity of the optic nerves/chiasm was reported in about 23% of Leber Hereditary Optic Neuropathy cases.
- Imaging findings were seen across ages and in both sexes, with some features more common in females.
- Familiarity with these patterns may aid earlier diagnosis.
Characteristic neuroimaging findings are reported in a substantial subset of patients with Leber Hereditary Optic Neuropathy (LHON) across a wide age range, according to a study that suggests recognizing these patterns may help support earlier diagnosis.
The analysis included 137 cases of LHON diagnoses, confirmed through genetic testing, drawn from 120 publications across 54 journals. Patients ranged in age from 2 to 81 years.
T2 hyperintensity of the optic nerves and/or optic chiasm was reported in 22.6% of cases. Post-contrast enhancement in these regions was noted in 10.9% of cases. Optic chiasm enlargement was reported in 5.1%, while 13.1% described optic chiasm atrophy.
T2 hyperintensity and post-contrast enhancement of the optic nerves and/or chiasm were reported more frequently in female patients than in males (P = 0.04 and P = 0.06, respectively). Several imaging features were also more commonly co-reported than expected, including T2 hyperintensity with post-contrast enhancement and T2 hyperintensity with optic chiasm enlargement (P < 0.001 for all).
Reference
Clarke JE, Yu A, Kawakibi T, et al. Diagnostic and Imaging Features of Leber Hereditary Optic Neuropathy: An Individual Participant Data Meta-Analysis. AJNR Am J Neuroradiol. 2026;ajnr.A9240. doi: 10.3174/ajnr.A9240. Epub ahead of print. PMID: 41698820.
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