Purpose: Two Caucasian Belgian families were diagnosed with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The ophthalmological findings in both ARSACS disease and carriers are described.
Methods: In addition to a complete ophthalmological assessment, in both patients and carriers, spectral-domain Optical Coherence Tomography scans of the peri-papillary retinal nerve fiber layer were performed.
Results: Molecular analysis revealed a missense mutation which has not been reported before. Besides patients with ARSACS, who also presented additional ophthalmological abnormalities i.e. eye movement problems, ARSACS carriers demonstrated thickening of the retinal nerve fiber layer.
Conclusion: 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.
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