Retinal Imaging in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Abstract

A case is described of autosomal recessive spastic ataxia of Charlevoix-Saguenay. Genetic analysis has shown that two mutant genes encoding the sacsin protein have been inherited one from each parent. In the proband the thickness of the nerve fibre layer is quantified using optical coherence tomography. An abnormally thick retinal nerve fibre layer has been previously described in this condition, ascribed to hypermyelination; the authors suggest that there is no evidence of abnormal myelination as the thickened nerve fibre layer is not opaque. Lesser degrees of nerve fibre layer thickening are seen in other family members who do not show any of the phenotypic features of the disorder.

Keywords::

• gait disorders/ataxia
• optical coherence tomography, peripheral neuropathy
• retinal nerve fibre layer
• spastic paraplegia

ACKNOWLEDGEMENTS

We are grateful to Rowdy Meijer (Radboud University Nijmegen Medical Centre) for performing the initial diagnostic test on the proband. S.N. and P.G. are grateful to Ataxia UK for their support. L.M.C. is supported by the UK Tuberous Sclerosis Association and the National Society for Epilepsy. J.P.C.’s ARSACS research is funded by the Medical Research Council (MRC Grant ID: 81373). M.M.R. is grateful to the Medical Research Council (MRC), the Muscular Dystrophy Campaign, and the NIH for their support. This work was undertaken at University College London Hospitals/University College London, which received a proportion of funding from the Department of Health’s National Institute for Health Research Biomedical Research Centres funding scheme.

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

Note: Figures 1 and 2 of this article are available in colour online at www.informahealthcare.com/oph