| Title |
Subacute Bilateral Visual Loss in Methylmalonic Acidemla |
| Creator |
Traber, Ghislaine; Baumgartner, Matthias R; Schwarz, Urs; Pangalu, Athina; Donath, Marc Y; Landau, Klara |
| Affiliation |
Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland |
| Abstract |
A 23-year-old woman known to have methylmalonic acidemia (MMA) since birth suffered bilateral visual loss within 5 days. Multiple sclerosis, Leber hereditary optic neuropathy, vasculitis, infections (in particular treponema), and vitamin deficiency were ruled out. The optic nerve head changed from normal in appearance to atrophic. Treatment attempts with high-dose intravenous steroids and coenzyme Q10 combined with vitamin E were ineffective. The patient's underlying disease was metabolically well controlled by strict diet and carnitine supplementation. Toxic damage of both optic nerves due to MMA is the most likely mechanism. MRI showed moderate enhancement of both optic nerves. To our knowledge, this is the first report of a morphological correlate on MRI. |
| Subject |
Acute Disease; Amino Acid Metabolism, Inborn Errors; Blindness; Carnitine; Female; Humans; Magnetic Resonance Imaging; Optic Nerve Diseases; Young Adult |
| Format |
application/pdf |
| Publication Type |
Journal Article |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
| Publisher |
Lippincott, Williams & Wilkins |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
© North American Neuro-Ophthalmology Society |
| Setname |
ehsl_novel_jno |
| ID |
227231 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6jx1m0m/227231 |
