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Specialty: Radiology

Keywords: Leber Hereditary Optic Neuropathy, MRI, optic chiasm atrophy, meta-analysis

Background: Leber Hereditary Optic Neuropathy (LHON) is a rare mitochondrial disorder that classically causes painless, progressive vision loss. Its presentation is heterogeneous and most often diagnosed from clinical evaluation, ophthalmological examination, and genetic testing. However, imaging modalities such as MRI are being increasingly recognized by LHON specialists as valuable tools for earlier diagnosis. Early recognition of LHON via radiologic findings would be critical for initiation of treatment prior to symptom progression and permanent vision loss.

Objective: In this individual participant data meta-analysis (IPDMA) study, we aim to identify trends in radiologic findings, additional diagnostic considerations, and treatment approaches in the largest cohort published to date of patients with LHON.

Methods: Data on patient age, imaging modality/findings, ophthalmological exams, and mitochondrial mutations were collected and nominalized for statistical analyses. 137 cases from 120 publications across 54 journals were identified. All cases involved LHON diagnoses confirmed through genetic testing.

Results: The patient age range was 2-81 years. 22.6% of case reports described the finding of T2-hyperintensity of the optic nerves and/or chiasm. 10.9% described post-contrast enhancement of the optic nerves and/or chiasm, 5.1% described optic chiasm enlargement, and 13.1% described optic chiasm atrophy (OCA). T2-hyperintensity and post-contrast enhancement of the optic nerves and/or chiasm were disproportionately reported in females, rather than males (p=0.04 and p=0.06, respectively). T2-hyperintensity and post-contrast enhancement of the optic nerves and/or chiasm, T2-hyperintensity of the optic nerves and/or chiasm and optic chiasm enlargement, and T2-hyperintensity of the optic nerves and/or chiasm and optic chiasm enlargement were all more co-reported than expected (p<0.001 for all).

Conclusions: In this IPDMA, patients of all ages, both male and female, presented with vision loss from LHON. There was a propensity for T2 -hyperintensity of the optic nerves and/or chiasm, particularly in females, and associated post-contrast enhancement of the lesions. Given the profound impact early diagnosis can make on saving patients' vision, it is important for radiologists to understand neuroimaging and clinical associations of LHON.