title: Late onset optic neuropathy in methylmalonic and propionic acidemia.
abstract: OBJECTIVE
  To describe 3 cases of late-onset bilateral optic neuropathy with visual dysfunction in patients with organic acidemia.
  
  
  METHODS
  Retrospective case series.
  
  
  METHODS
  A total of 3 subjects, a 16-year-old male with methylmalonic acidemia (MMA), a 21-year-old male with MMA, and a 20-year-old female with propionic acidemia (PA), are included in this series. Comparison of the patients' clinical course, ophthalmologic exam, and testing are discussed. The outcome measures include visual acuity (VA), fundus appearance, visual fields, brain imaging, and genetic testing.
  
  
  RESULTS
  All 3 subjects had late-onset severe bilateral VA loss with bilateral optic nerve pallor, central or cecocentral scotomas on visual field testing, and negative diagnostic workups for other causes of bilateral optic neuropathy.
  
  
  CONCLUSIONS
  Patients with organic acidemia may develop late-onset bilateral optic neuropathy with visual dysfunction despite lifelong propiogenic amino acid restriction and dietary supplementation.
authors.affiliation: Department of Ophthalmology, University of Rochester, Rochester, New York, USA.
authors.forename: Zoë R
authors.initials: ZR
authors.lastname: Williams
authors.forename: P Emmett
authors.initials: PE
authors.lastname: Hurley
authors.forename: Ugur E
authors.initials: UE
authors.lastname: Altiparmak
authors.forename: Steven E
authors.initials: SE
authors.lastname: Feldon
authors.forename: Georgianne L
authors.initials: GL
authors.lastname: Arnold
authors.forename: Eric
authors.initials: E
authors.lastname: Eggenberger
authors.forename: Luis J
authors.initials: LJ
authors.lastname: Mejico
mesh_terms: D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000150:complications* / Q000178:diet therapy; D019587:Dietary Supplements; D005260:Female; D006801:Humans; D008297:Male; D008764:Methylmalonic Acid / Q000097:blood*; D009901:Optic Nerve Diseases / Q000097:blood / Q000209:etiology*; D011422:Propionates / Q000097:blood*; D012189:Retrospective Studies; D012607:Scotoma / Q000097:blood / Q000209:etiology*; D014792:Visual Acuity; D014794:Visual Fields; D055815:Young Adult
chemical_list: D011422:Propionates; D008764:Methylmalonic Acid; C029658:propionic acid