The association between a rare mitochondrial eye disease and MS grows curiouser and curiouser. Do the two conditions occur together by chance, or is there more to it than meets the eye?
The association between a rare mitochondrial eye disease and MS grows curiouser and curiouser. Do the two conditions occur together by chance, or is there more to it than meets the eye?
RICKI LEWIS, PH.D.
Are MS and LHON like Tweedledum and Tweedledee, or are they more like apples and Buicks?
Some patients with the rare mitochondrial eye disease Leber hereditary optic neuropathy (LHON) develop MS-like symptoms. A study from Jacqueline Palace, M.D., principal investigator and leader of the Oxford Multiple Sclerosis and Neuromyelitis Group at the University of Oxford, and colleagues published in theJournal of Neurology, Neurosurgery & Psychiatry reveals white matter changes in two LHON patients who do not have MS symptoms, possibly providing a snapshot of early MS (Matthews et al., 2014). But the jury is still out on whether the co-occurrence of the diseases reflects chance or a shared pathogenesis.
“A number of hypotheses have been put forward to explain the intriguing association between LHON and MS. A lot of questions still remain unanswered,” said Patrick Yu-Wai-Man, M.D., Ph.D., in an interview with MSDF. Yu-Wai-Man is an academic ophthalmologist at Newcastle University in the U.K., who studies the two diseases but who was not an author of the new paper.
MRI spots early changes
In the new investigation, three experts reviewed blinded brain MRIs from 30 people with MS but not LHON, 31 people with LHON but not MS, and 11 people with LHON and MS symptoms (LMS). All subjects with MS or LMS had white matter lesions. Of the eight individuals with LHON alone who had white matter lesions, two fit the pattern of MS, but seemingly at an earlier stage: smaller lesions, fewer oval ones, no “Dawson’s fingers” (lesions at specific angles to veins near the ventricles), and no diffuse widespread lesions
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