Magnetic Resonance Imaging Findings in the Pregeniculate Visual Pathway in Leber Hereditary Optic Neuropathy

Current research has not provided a consistent and qualitative description of MRI features in Leber hereditary optic neuropathy (LHON). Our study aims to investigate the MRI findings in the pregeniculate visual pathway and discuss their clinical significance in LHON.

Orbital MRI was retrospectively analyzed for 53 patients with LHON (101 afflicted eyes) admitted to the Department of Neurology, Beijing Tongren Hospital, Capital Medical University, from 2014 to 2019. We described the imaging abnormalities and discussed their associations with the time interval from the onset of vision loss to the performance of MRI (TIOVP), prevalence of m.11778G>A, and best-corrected visual acuity (BCVA).

T2 hyperintense signal (HS) was determined in 82 afflicted eyes, with 34 located in the intraorbital segment (IO) of the optic nerve (ON), 26 in the IO concurrent with intracanalicular segment (ICn), 14 in the IO and ICn concurrent with intracranial segment (ICr) of the ON, 4 in the IO, ICn, and ICr concurrent with optic chiasm (OCh), and 4 in the IO, ICn, ICr, and OCh concurrent with optic tract (OTr). MRI was normal in the remaining 19 afflicted eyes. Among the 6 groups, no statistical differences were found in the TIOVP (P = 0.071), prevalence of m.11778G>A (P = 0.234), and BCVA (P = 0.076). As T2 HS extended, the BCVA gradually decreased. Nineteen of the 54 afflicted eyes revealed contrast enhancement, with the TIOVP ranging from 0.25 to 6 months.

T2 HS was common in the pregeniculate visual pathway in LHON. It was not correlated with the prevalence of m.11778G>A and did not benefit in disease staging. As it extended, the BCVA gradually decreased. Contrast enhancement was relatively rare, always occurring in the subacute stage.