title: Retinal nerve fiber layer thickening in ARSACS carriers.
abstract: OBJECTIVE
  Two Caucasian Belgian families were diagnosed with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The ophthalmological findings in both ARSACS disease and carriers are described.
  
  
  METHODS
  In addition to a complete ophthalmological assessment, in both patients and carriers, spectral-domain Optical Coherence Tomography scans of the peri-papillary retinal nerve fiber layer were performed.
  
  
  RESULTS
  Molecular analysis revealed a missense mutation which has not been reported before. Besides patients with ARSACS, who also presented additional ophthalmological abnormalities i.e. eye movement problems, ARSACS carriers demonstrated thickening of the retinal nerve fiber layer.
  
  
  CONCLUSIONS
  The most conspicuous ophthalmological feature of ARSACS is an increased thickness of the peri-papillary retinal nerve fiber layer. Retinal striation and thickening of the nerve fiber layer on spectral-domain Optical Coherence Tomography appeared also in carriers of the ARSACS-gene. Other ophthalmological features encountered, were gaze-evoked nystagmus and rebound nystagmus.
authors: Department of Ophthalmology, University Hospital Vrije Universiteit Brussel, Brussels, Belgium.
authors: Michel
authors: M
authors: van Lint
authors: Department of Ophthalmology, General Hospital Maria Middelares, Ghent, Belgium.
authors: Kristien
authors: K
authors: Hoornaert
authors: Department of Ophthalmology, University Hospital Vrije Universiteit Brussel, Brussels, Belgium. Electronic address: marcel.tentusscher@uzbrussel.be.
authors: Marcel P M
authors: MPM
authors: Ten Tusscher
mesh_terms: D000328:Adult; D000368:Aged; D001530:Belgium; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology; D020125:Mutation, Missense; D009929:Organ Size; D010375:Pedigree; D012160:Retina / Q000000981:diagnostic imaging*; D020754:Spinocerebellar Ataxias / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology
keywords: ARSACS; Nerve fiber layer; Retinal thickening