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. 2015 May;86(5):537-42.
doi: 10.1136/jnnp-2014-308186. Epub 2014 Jul 22.

MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis

Lucy Matthews  1 , Christian Enzinger  2 , Franz Fazekas  3 , Alex Rovira  4 , Olga Ciccarelli  5 , Maria Teresa Dotti  6 , Massimo Filippi  7 , Jette L Frederiksen  8 , Antonio Giorgio  6 , Wilhelm Küker  1 , Carsten Lukas  9 , Maria A Rocca  7 , Nicola De Stefano  6 , Ahmed Toosy  5 , Tarek Yousry  5 , Jacqueline Palace  1 ; MAGNIMS Network
Affiliations

MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis

Lucy Matthews et al. J Neurol Neurosurg Psychiatry. 2015 May.

Abstract

Background: Leber's hereditary optic neuropathy (LHON) and a multiple sclerosis (MS)-like illness appear to coexist 50 times more frequently than would be expected by chance. This association of LHON and MS (LMS) raises an important question about whether there could be a common pathophysiological mechanism involving mitochondrial dysfunction.

Objective: The primary aim was to define MRI features of LMS and LHON, and to assess the proportions of individuals displaying features typical of MS. Secondarily, we investigated the effect of gender on the risk of developing white matter lesions in the context of LHON.

Methods: A blinded standardised review of conventional brain MRIs of 30 patients with MS, 31 patients with LHON and 11 patients with LMS was conducted by three independent experts in the field. MS-like MRI features were assessed.

Results: All patients with LMS and 26% of patients with LHON had white matter lesions. Of these, all patients with LMS and 25% with LHON were found to have an MRI appearance typical of MS. Female patients with LHON had a significantly greater risk of having white matter lesions consistent with MS compared with male patients (relative risk 8.3).

Conclusions: A blinded review of conventional brain MRIs shows that patients with LMS have a scan appearance indistinguishable from MS. Mitochondrial dysfunction could be a common pathophysiological pathway in the formation of white matter lesions. There appears to be a strong female influence on the radiological appearance as well as clinical development of MS in patients with LHON.

Keywords: Leber Heredit Optic Atropy; MRI; Multiple Sclerosis; Neurogenetics.

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Figures

Figure 1
Figure 1
Bar graphs showing (A) morphology of T2 lesions in each participant group (B) lesion location in each participant group. LHON, Leber's hereditary optic neuropathy; LMS, MS-like disease in association with LHON; MS, multiple sclerosis.
Figure 2
Figure 2
Examples of T2 brain MRI from the study data set. (A) Representative slices of four different patients with LMS (multiple sclerosis (MS)-like disease in association with Leber's hereditary optic neuropathy (LHON)) who were considered to have scans typical of MS. (B) A patient with LMS whose scan was considered by two of three reviewers not to be typical of MS. (C) A patient with LHON and no symptoms of MS who had the brain MRI felt to be typical of MS. (D) A patient with LHON and no symptoms of MS who had white matter lesions not felt to be typical of MS.
See this image and copyright information in PMC

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