Caractérisation de nouveaux aspects de l'ataxie spastique autosomale récessive de Charlevoix-Saguenay à l'aide d'un procédé d'imagerie : la tomographie par cohérence optique (OCT)

Authors: Paulo, Audrey
Advisor: Fredette, Marie-Josée
Abstract: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset hereditary disorder characterized by a typical phenotype including eye abnormalities. We performed a 20-month prospective follow-up of 14 ARSACS and 36 controls. Patients underwent neuro-ophthalmologic evaluations and measurements using an optical coherence tomography instrument. Increased thicknesses of the average retinal nerve fiber layer (mRNFL), the central subfield thickness (CST) and the macular cube average thickness (CAT) have been demonstrated in ARSACS compared with controls (p< 0,0001 in all sessions). Changes in the mRNFL and CAT thicknesses during the follow-up differed significantly (p=0,030 and p=0,026 respectively) between the 2 groups, and these parameters were inversely correlated with the degree of severity of the disease, which suggest a reduction of the mRNFL and CAT thicknesses as the disease progresses.
Document Type: Mémoire de maîtrise
Issue Date: 2015
Open Access Date: 24 April 2018
Grantor: Université Laval
Collection:Thèses et mémoires

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