Format

Send to

Choose Destination
Eur J Neurol. 2011 Sep;18(9):1187-90. doi: 10.1111/j.1468-1331.2010.03335.x. Epub 2011 Jan 25.

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

Author information

1
Department of Ophthalmology, Sapienza University of Rome, Polo Pontino, A. Fiorini Hospital, Terracina, Italy.

Abstract

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.

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center