Adult-onset bilateral optic neuropathy in a patient with non-familial childhood-onset generalized dystonia associated with mitochondrial DNA 14459G>A mutation: a case report and review of literature
Thaller, M Samra, A P Chaudhary, U J Roque, M Pall, H Mollan, S P Srinivasan, V
Thaller, M
Samra, A P
Chaudhary, U J
Roque, M
Pall, H
Mollan, S P
Srinivasan, V
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2024-09-17
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Abstract
The occurrence of Leber Hereditary Optic Neuropathy in association with dystonia is exceedingly rare. There have been only a few previously reported cases describing this clinical phenotype with the mitochondrial DNA 14459 G>A/ND6 mutation. This mutation has been described to also manifest as isolated Leber Hereditary Optic Neuropathy or Leigh Syndrome/Leigh-like Syndrome in a very small number of patients. We report the case of a 27-year-old female who presented with bilateral sequential optic neuropathy on a background of non-familial generalized dystonia. Magnetic resonance imaging performed during childhood had shown bilateral high signal changes in the basal ganglia. Extensive testing for a possible autoimmune etiology was unrevealing. Her vision did not improve with aggressive steroid and plasma exchange treatment. Targeted genetic testing revealed a mitochondrial DNA 14459 G>A/ND6 mutation. Genetic analysis for the mitochondrial DNA 14459 G>A/ND6 mutation should be tested in a patient presenting with bilateral sequential optic neuropathy with co-morbid dystonia.
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Thaller M, Samra AP, Chaudhary UJ, Roque M, Pall H, Mollan SP, Srinivasan V. Adult-Onset Bilateral Optic Neuropathy in a Patient with Non-Familial Childhood-Onset Generalized Dystonia Associated with Mitochondrial DNA 14459G>A Mutation: A Case Report and Review of Literature. Neuroophthalmology. 2024 Sep 17;49(3):206-211. doi: 10.1080/01658107.2024.2405697.
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