title: Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients.
abstract: OBJECTIVE
  To present full ophthalmologic examination and retinal nerve fiber layer (RNFL) photographs of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) patients showing significant increases in RNFL thickness compared to healthy subjects, but without myelinated retinal fibers.
  
  
  METHODS
  The study design was observational case series. Ten eyes of five patients with molecular confirmation of ARSACS underwent a full ophthalmologic examination that included clinical history, visual acuity, biomicroscopy of the anterior segment, gonioscopy, Goldmann applanation tonometry, central corneal ultrasonic pachymetry, ophthalmoscopy of the posterior segment, standard automatic perimetry (Humphrey field), simultaneous stereophotographs of the optic disc after mydriasis, a series of five red-free digital fundus photographs for RNFL evaluation, topographic analysis of the optic disc using the Heidelberg retina tomography, and measurement of peripapillary RNFL thickness with Cirrus optical coherence tomography.
  
  
  RESULTS
  All patients showed abnormal visual fields, normal optic discs with a mild to strikingly increased visibility of RNFL in color stereophotographs, normal Heidelberg tomography, and moderate to markedly increased RNFL thickness in Cirrus tomography (average thickness ranging from 119 μm to 220 μm).
  
  
  CONCLUSIONS
  We found evidence of RNFL hypertrophy in ARSACS patients that may have been interpreted as hypermyelinated retinal fibers in previous reports. A revision of ARSACS diagnostic criteria, particularly with regard to retinal alterations, is necessary.
authors.affiliation: Ophthalmology Department, Miguel Servet University Hospital, Zaragoza, Spain.
authors.forename: Luis E
authors.initials: LE
authors.lastname: Pablo
authors.forename: Elena
authors.initials: E
authors.lastname: Garcia-Martin
authors.forename: Jose
authors.initials: J
authors.lastname: Gazulla
authors.forename: Jose M
authors.initials: JM
authors.lastname: Larrosa
authors.forename: Antonio
authors.initials: A
authors.lastname: Ferreras
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Isabel
authors.initials: I
authors.lastname: Benavente
authors.forename: Ana
authors.initials: A
authors.lastname: Vela
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Marin
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006068:Gonioscopy; D006801:Humans; D008297:Male; D008875:Middle Aged; D009128:Muscle Spasticity / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D009413:Nerve Fibers, Myelinated / Q000502:physiology; D036421:Nerve Fibers, Unmyelinated / Q000473:pathology*; D019370:Observation; D009887:Ophthalmoscopy; D009901:Optic Nerve Diseases / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D012160:Retina / Q000737:chemistry* / Q000473:pathology; D020754:Spinocerebellar Ataxias / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D014054:Tomography; D014792:Visual Acuity; D058609:Visual Field Tests; D014794:Visual Fields