Catastrophic visual loss in a patient with Friedreich ataxia.
Porter
Neroli
N
Department of Clinical Genetics, Churchill Hospital, Churchill Drive, Oxford, England.
Downes
Susan M
SM
Fratter
Carl
C
Anslow
Philip
P
Németh
Andrea H
AH
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
D033862:Iron-Binding Proteins; D000520:alpha-Glucosidases; D000096923:Frataxin; C509951:GAA protein, human