Catastrophic visual loss in a patient with Friedreich ataxia

Arch Ophthalmol. 2007 Feb;125(2):273-4. doi: 10.1001/archopht.125.2.273.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Blindness / etiology*
  • Blindness / genetics
  • Electroretinography
  • Female
  • Friedreich Ataxia / complications*
  • Friedreich Ataxia / genetics
  • Humans
  • Iron-Binding Proteins / genetics
  • Middle Aged
  • Mutation, Missense
  • Optic Atrophy / complications*
  • Optic Atrophy / genetics
  • Visual Acuity
  • alpha-Glucosidases / genetics

Substances

  • Iron-Binding Proteins
  • frataxin
  • GAA protein, human
  • alpha-Glucosidases