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

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 fun...

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Bibliographic Details
Published in:European journal of neurology 2011-09, Vol.18 (9), p.1187-1190
Main Authors: Vingolo, E. M., Di Fabio, R., Salvatore, S., Grieco, G., Bertini, E., Leuzzi, V., Nesti, C., Filla, A., Tessa, A., Pierelli, F., Santorelli, F. M., Casali, C.
Format: Article
Language:English
Subjects:
Adult
ARSACS
Ataxia
Female
Fibers
Humans
Male
Middle Aged
Muscle Spasticity - pathology
Myelination
Nerve Fibers, Myelinated - pathology
Nerves
optical coherence tomography
persistent myelination of the retina
Retina
Retina - pathology
retinal myelination
Spinocerebellar Ataxias - congenital
Spinocerebellar Ataxias - pathology
Tomography
Tomography, Optical Coherence
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Summary: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.
ISSN:1351-5101
1468-1331
DOI:10.1111/j.1468-1331.2010.03335.x