TY - JOUR
T1 - Analysis of the visual system in Friedreich ataxia
AU - Seyer, Lauren A.
AU - Galetta, Kristin
AU - Wilson, James
AU - Sakai, Reiko
AU - Perlman, Susan L
AU - Mathews, Katherine D.
AU - Wilmot, George R
AU - Gomez, Christopher M
AU - Ravina, Bernard
AU - Zesiewicz, Theresa A.
AU - Bushara, Khalaf O
AU - Subramony, S. H.
AU - Ashizawa, Tetsuo
AU - Delatycki, Martin B.
AU - Brocht, Alicia F D
AU - Balcer, Laura J.
AU - Lynch, David R
PY - 2013/9
Y1 - 2013/9
N2 - 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.
AB - 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.
KW - Friedreich ataxia
KW - Neurology
KW - Optical coherence tomography
UR - http://www.scopus.com/inward/record.url?scp=84884354987&partnerID=8YFLogxK
U2 - 10.1007/s00415-013-6978-z
DO - 10.1007/s00415-013-6978-z
M3 - Article
C2 - 23775342
AN - SCOPUS:84884354987
VL - 260
SP - 2362
EP - 2369
JO - Journal of Neurology
JF - Journal of Neurology
SN - 0340-5354
IS - 9
ER -