title: Catastrophic visual loss in a patient with Friedreich ataxia.
authors.affiliation: Department of Clinical Genetics, Churchill Hospital, Churchill Drive, Oxford, England.
authors.forename: Neroli
authors.initials: N
authors.lastname: Porter
authors.forename: Susan M
authors.initials: SM
authors.lastname: Downes
authors.forename: Carl
authors.initials: C
authors.lastname: Fratter
authors.forename: Philip
authors.initials: P
authors.lastname: Anslow
authors.forename: Andrea H
authors.initials: AH
authors.lastname: Németh
mesh_terms: D001766:Blindness / Q000209:etiology* / Q000235:genetics; D004596:Electroretinography; D005260:Female; D005621:Friedreich Ataxia / Q000150:complications* / Q000235:genetics; D006801:Humans; D033862:Iron-Binding Proteins / Q000235:genetics; D008875:Middle Aged; D020125:Mutation, Missense; D009896:Optic Atrophy / Q000150:complications* / Q000235:genetics; D014792:Visual Acuity; D000520:alpha-Glucosidases / Q000235:genetics; D000096923:Frataxin
chemical_list: D033862:Iron-Binding Proteins; D000520:alpha-Glucosidases; D000096923:Frataxin; C509951:GAA protein, human