Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Eur J Neurol
; 18(9): 1187-90, 2011 Sep.
Article
in En
| MEDLINE
| ID: mdl-21410841
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Retina
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Spinocerebellar Ataxias
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Muscle Spasticity
/
Nerve Fibers, Myelinated
Limits:
Adult
/
Female
/
Humans
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Male
/
Middle aged
Language:
En
Journal:
Eur J Neurol
Journal subject:
NEUROLOGIA
Year:
2011
Document type:
Article
Affiliation country: