title: Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay.
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.
authors.affiliation: Department of Ophthalmology, Sapienza University of Rome, Polo Pontino, A. Fiorini Hospital, Terracina, Italy.
authors.forename: E M
authors.initials: EM
authors.lastname: Vingolo
authors.forename: R
authors.initials: R
authors.lastname: Di Fabio
authors.forename: S
authors.initials: S
authors.lastname: Salvatore
authors.forename: G
authors.initials: G
authors.lastname: Grieco
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: V
authors.initials: V
authors.lastname: Leuzzi
authors.forename: C
authors.initials: C
authors.lastname: Nesti
authors.forename: A
authors.initials: A
authors.lastname: Filla
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: F
authors.initials: F
authors.lastname: Pierelli
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: C
authors.initials: C
authors.lastname: Casali
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000473:pathology*; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D012160:Retina / Q000473:pathology*; D020754:Spinocerebellar Ataxias / Q000151:congenital* / Q000473:pathology; D041623:Tomography, Optical Coherence