Journal article
Analysis of the visual system in Friedreich ataxia
Journal of neurology, Vol.260(9), pp.2362-2369
09/2013
DOI: 10.1007/s00415-013-6978-z
PMID: 23775342
Abstract
To use optical coherence tomography (OCT) and contrast letter acuity to characterize vision loss in Friedreich ataxia (FRDA). High- and low-contrast letter acuity and neurological measures were assessed in 507 patients with FRDA. In addition, OCT was performed on 63 FRDA patients to evaluate retinal nerve fiber layer (RNFL) and macular thickness. Both OCT and acuity measures were analyzed in relation to genetic severity, neurologic function, and other disease features. High- and low-contrast letter acuity was significantly predicted by age and GAA repeat length, and highly correlated with neurological outcomes. When tested by OCT, 52.7 % of eyes (n = 110) had RNFL thickness values below the fifth percentile for age-matched controls. RNFL thickness was significantly lowest for those with worse scores on the Friedreich ataxia rating scale (FARS), worse performance measure composite Z
2 scores, and lower scores for high- and low-contrast acuity. In linear regression analysis, GAA repeat length and age independently predicted RNFL thickness. In a subcohort of participants, 21 % of eyes from adult subjects (n = 29 eyes) had macular thickness values below the first percentile for age-matched controls, suggesting that macular abnormalities can also be present in FRDA. Low-contrast acuity and RNFL thickness capture visual and neurologic function in FRDA, and reflect genetic severity and disease progression independently. This suggests that such measures are useful markers of neurologic progression in FRDA.
Details
- Title: Subtitle
- Analysis of the visual system in Friedreich ataxia
- Creators
- Lauren Seyer - Divisions of Neurology and Pediatrics Children’s Hospital of Philadelphia Abramson Research Center Room 502 Philadelphia PA 19104 USAKristin Galetta - Departments of Neurology, Ophthalmology and Epidemiology University of Pennsylvania Medical School Philadelphia PA USAJames Wilson - Departments of Neurology, Ophthalmology and Epidemiology University of Pennsylvania Medical School Philadelphia PA USAReiko Sakai - Departments of Neurology, Ophthalmology and Epidemiology University of Pennsylvania Medical School Philadelphia PA USASusan Perlman - Department of Neurology University of California Los Angeles Los Angeles CA USAKatherine Mathews - Department of Neurology University of Iowa Iowa IA USAGeorge Wilmot - Department of Neurology Emory University Atlanta GA USAChristopher Gomez - Department of Neurology University of Chicago Chicago IL USABernard Ravina - Department of Neurology University of Rochester Rochester NY USATheresa Zesiewicz - Department of Neurology University of South Florida Tampa FL USAKhalaf Bushara - Department of Neurology University of Minnesota Minneapolis MN USAS Subramony - Department of Neurology University of Florida Gainesville FL USATetsuo Ashizawa - Department of Neurology University of Florida Gainesville FL USAMartin Delatycki - Department of Neurology Murdoch Children’s Research Institute Melbourne AustraliaAlicia Brocht - Department of Neurology University of Rochester Rochester NY USALaura Balcer - Departments of Neurology, Ophthalmology and Epidemiology University of Pennsylvania Medical School Philadelphia PA USADavid Lynch - Divisions of Neurology and Pediatrics Children’s Hospital of Philadelphia Abramson Research Center Room 502 Philadelphia PA 19104 USA
- Resource Type
- Journal article
- Publication Details
- Journal of neurology, Vol.260(9), pp.2362-2369
- Publisher
- Springer Berlin Heidelberg; Berlin/Heidelberg
- DOI
- 10.1007/s00415-013-6978-z
- PMID
- 23775342
- ISSN
- 0340-5354
- eISSN
- 1432-1459
- Language
- English
- Date published
- 09/2013
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984017631902771
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