title: [Finding of retinal nerve fiber layer hypertrophy in ataxia of Charlevoix-Saguenay patients].
abstract: OBJECTIVE
  To present the neuro-ophthalmology examination in 5 spastic ataxia of Charlevoix-Saguenay (ARSACS) patients showing significant increases in retinal nerve fiber layer (RNFL) thickness.
  
  
  CONCLUSIONS
  All patients showed abnormal visual fields, normal optic discs with increased visibility of RNFL in color stereo-photographs, normal examination with Heidelberg Retina Tomography instrument, and moderate to markedly increased RNFL thickness in Cirrus Optical Coherence Tomography evaluation (average thickness: 119 to 220 microns). We found evidence that RNFL hypertrophy may be an alternative funduscopic finding to the hypermyelinated retinal fibers in previous reports. A revision of ARSACS diagnostic criteria, particularly with regard to retinal alterations, is necessary.
authors.affiliation: Servicio de Oftalmología, Hospital Universitario Miguel Servet, Zaragoza, España; Instituto Aragonés de Ciencias de la Salud (IACS), Zaragoza, España. Electronic address: egmvivax@yahoo.com.
authors.forename: E
authors.initials: E
authors.lastname: Garcia-Martin
authors.affiliation: Servicio de Oftalmología, Hospital Universitario Miguel Servet, Zaragoza, España; Instituto Aragonés de Ciencias de la Salud (IACS), Zaragoza, España.
authors.forename: M P
authors.initials: MP
authors.lastname: Bambo
authors.affiliation: Servicio de Neurología, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: J
authors.initials: J
authors.lastname: Gazulla
authors.affiliation: Servicio de Oftalmología, Hospital Universitario Miguel Servet, Zaragoza, España; Instituto Aragonés de Ciencias de la Salud (IACS), Zaragoza, España.
authors.forename: J M
authors.initials: JM
authors.lastname: Larrosa
authors.affiliation: Servicio de Oftalmología, Hospital Universitario Miguel Servet, Zaragoza, España; Instituto Aragonés de Ciencias de la Salud (IACS), Zaragoza, España.
authors.forename: V
authors.initials: V
authors.lastname: Polo
authors.affiliation: Servicio de Oftalmología, Hospital Universitario Miguel Servet, Zaragoza, España; Instituto Aragonés de Ciencias de la Salud (IACS), Zaragoza, España.
authors.forename: M I
authors.initials: MI
authors.lastname: Fuertes
authors.affiliation: Servicio de Oftalmología, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: J L
authors.initials: JL
authors.lastname: Fuentes
authors.affiliation: Servicio de Oftalmología, Hospital Universitario Miguel Servet, Zaragoza, España; Instituto Aragonés de Ciencias de la Salud (IACS), Zaragoza, España.
authors.forename: A
authors.initials: A
authors.lastname: Ferreras
authors.affiliation: Servicio de Oftalmología, Hospital Universitario Miguel Servet, Zaragoza, España; Instituto Aragonés de Ciencias de la Salud (IACS), Zaragoza, España.
authors.forename: L E
authors.initials: LE
authors.lastname: Pablo
mesh_terms: D006801:Humans; D006984:Hypertrophy / Q000209:etiology; D009128:Muscle Spasticity / Q000150:complications*; D009412:Nerve Fibers / Q000473:pathology*; D012160:Retina / Q000473:pathology*; D020754:Spinocerebellar Ataxias / Q000150:complications / Q000151:congenital*
keywords: Ataxia espástica autosómicarecesiva de Charlevoix-Saguenay; Ataxia of Charlevoix-Saguenay; Capa de fibras nerviosas de la retina; Heidelberg retina tomograph; Optical coherence tomography; Retinal nerve fiber layer; Tomografía de coherencia óptica