Journal article

Analysis of the visual system in Friedreich ataxia

Lauren A Seyer, Kristin Galetta, James Wilson, Reiko Sakai, Susan Perlman, Katherine Mathews, George R Wilmot, Christopher M Gomez, Bernard Ravina, Theresa Zesiewicz, Khalaf O Bushara, SH Subramony, Tetsuo Ashizawa, Martin B Delatycki, Alicia Brocht, Laura J Balcer, David R Lynch



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 f..

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