[Finding of retinal nerve fiber layer hypertrophy in ataxia of Charlevoix-Saguenay patients].

PURPOSE/METHODS 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. RESULTS/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.