title: Temporal retinal nerve fiber loss in patients with spinocerebellar ataxia type 1.
abstract: BACKGROUND
  Autosomal dominant spinocerebellar ataxia type 1 is an adult onset progressive disorder with well characterized neurodegeneration in the cerebellum and brainstem. Beyond brain atrophy, few data exist concerning retinal and optic nerve involvement.
  
  
  OBJECTIVE
  To evaluate retinal changes in SCA1 patients compared to age and gender matched healthy controls.
  
  
  RESULTS
  Nine patients with SCA1 were prospectively recruited from the ataxia clinic and were compared to nine age and gender matched healthy controls. Both cohorts received assessment of visually evoked potentials and eye examination by optical coherence tomography to determine retinal nerve fiber layer thickness and total macular volume. While no differences were found in visually evoked potentials, SCA1 patients showed a significant reduction of mean retinal nerve fiber layer thickness (RNFLT) compared to healthy controls (84±13 µm vs. 97±8 µm, p = 0.004). Temporal areas showed the most prominent RNFLT reduction with high statistical significances (temporal-inferior: p<0.001, temporal: p<0.001, temporal-superior: p = 0.005) whereas RNFLT in nasal areas was in the range of the control group. From six SCA1 patients an additional macular scan was obtained. The comparison to the corresponding healthy control showed a slight but not significant reduction in TMV (8.22±0.68 mm(3) vs. 8.61±0.41 mm(3), p = 0.15).
  
  
  CONCLUSIONS
  In SCA1 patients, we found evidence for degeneration of retinal nerve fibers. The temporal focus of the observed retinal nerve fiber layer reduction suggests an involvement of the papillo-macular bundle which resembles pathology found in toxic or mitochondrial optic nerve disease such as Leber's hereditary optic neuropathy (LHON) or dominant optic atrophy (DOA).
authors.affiliation: Klinik für Neurologie, Charité-Universitätsmedizin Berlin, Berlin, Germany. sarah.stricker@charite.de
authors.forename: Sarah
authors.initials: S
authors.lastname: Stricker
authors.forename: Timm
authors.initials: T
authors.lastname: Oberwahrenbrock
authors.forename: Hanna
authors.initials: H
authors.lastname: Zimmermann
authors.forename: Jan
authors.initials: J
authors.lastname: Schroeter
authors.forename: Matthias
authors.initials: M
authors.lastname: Endres
authors.forename: Alexander U
authors.initials: AU
authors.lastname: Brandt
authors.forename: Friedemann
authors.initials: F
authors.lastname: Paul
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001933:Brain Stem / Q000473:pathology*; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009410:Nerve Degeneration / Q000473:pathology*; D009412:Nerve Fibers / Q000473:pathology*; D011446:Prospective Studies; D012160:Retina / Q000473:pathology*; D020754:Spinocerebellar Ataxias / Q000473:pathology*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D055815:Young Adult