title: Subacute bilateral visual loss in methylmalonic acidemia.
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.
authors.affiliation: Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.
authors.forename: Ghislaine
authors.initials: G
authors.lastname: Traber
authors.forename: Matthias R
authors.initials: MR
authors.lastname: Baumgartner
authors.forename: Urs
authors.initials: U
authors.lastname: Schwarz
authors.forename: Athina
authors.initials: A
authors.lastname: Pangalu
authors.forename: Marc Y
authors.initials: MY
authors.lastname: Donath
authors.forename: Klara
authors.initials: K
authors.lastname: Landau
mesh_terms: D000208:Acute Disease; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000178:diet therapy / Q000503:physiopathology; D001766:Blindness / Q000178:diet therapy / Q000209:etiology* / Q000503:physiopathology; D002331:Carnitine / Q000008:administration & dosage; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009901:Optic Nerve Diseases / Q000178:diet therapy / Q000209:etiology* / Q000503:physiopathology; D055815:Young Adult
chemical_list: D002331:Carnitine