A 29-year-old man with alcoholism presented with sudden progressive central visual loss in the right eye. Visual acuity was 20/300 (right) and 20/20 (left). Other findings included right relative afferent pupillary defect and bilateral hyperemic nonedematous optic discs concerning for OD retrobulbar optic neuritis. MRI head and orbit revealed symmetric T2 hyperintensities in the substantia nigra, without optic nerve hyperintensities (figure). Subsequently he lost vision in his left eye. Given that his maternal uncle developed bilateral optic neuritis in his 20s, genetic testing for Leber hereditary optic neuropathy was performed, finding a point mutation (m.11778G>A) in mitochondrially encoded NADH dehydrogenase 4. The unusual gray matter hyperintensities in this case favored a metabolic rather than demyelinating etiology.
Coronal T2 MRI (A) and axial fluid-attenuated inversion recovery MRI (B) show bilateral symmetric substantia nigra T2 hyperintensities (arrowheads). These lesions do not show restricted diffusion (arrowheads) on axial diffusion-weighted imaging (C).
Study funding
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Footnotes
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Teaching slides links.lww.com/WNL/A990
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