Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay

E. M. Vingolo, R. di Fabio, S. Salvatore, G. Grieco, E. Bertini, V. Leuzzi, C. Nesti, A. Filla, A. Tessa, F. Pierelli, F. M. Santorelli, C. Casali

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Background: Myelinated retinal nerve fibers are considered a hallmark of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in French Canadian patients. The demonstration of a worldwide distribution of this disease, as well as the almost invariable presence of a normal retina on fundoscopy in cases outside Canada, suggests that more quantitative methodologies are needed to assess the retina in ARSACS. Methods: To characterize better the retinal features of ARSACS, we studied five Italian patients by means of optical coherence tomography (OCT), a processing method that allows the creation of three-dimensional images with micrometer resolution. We compared OCT characteristics in ARSACS with those obtained from five subjects with persistent myelination of the retina, a rare congenital non-progressive anomaly. Results: Four patients with ARSACS showed myelinated retinal nerve fibers on ophthalmoscopy, corresponding to an increased thickness of the retina on OCT, a characteristic not present in the subjects with persistent myelination of the retina. Conclusions: Myelinated retinal fibers are not rare in Italian patients with ARSACS. This finding may be the consequence of the thickening of the retina, as detected by OCT.

Original languageEnglish
Pages (from-to)1187-1190
Number of pages4
JournalEuropean Journal of Neurology
Issue number9
Publication statusPublished - Sep 2011


  • Optical coherence tomography
  • Persistent myelination of the retina
  • Retinal myelination

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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