Retinal nerve fiber layer thickening in ARSACS carriers

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.