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Titre	Increased peripapillary retinal nerve fiber layer thickness as an ophthalmological sign in ARSACS patients and carriers
Abstract Nr.	P126

But	To describe the ophthalmological findings in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in both disease, and carriers.
Méthodes	Two Caucasian Belgian families were diagnosed with ARSACS. An ophthalmological evaluation was performed, including pattern evoked potentials (PVEP), corneal topography scans, automated visual fields, optical coherence tomography (OCT) scan of the macula and OCT scan of the peripapillary retinal nerve fiber layer thickness.
Résultats	Peripapillary retinal nerve fiber layer (RNFL) thickness was increased in both patients, and carriers. Other possible findings were signs of lens subluxation and perturbed eye movements.
Conclusion	The most conspicuous ophthalmological feature of ARSACS is an increased thickness of the peripapillary RNFL, which could be mistaken for optic disc edema or myelinated nerve fibers. This finding may help the neurologist in diagnosing this rare neurodegenerative disorder. Furthermore, the peripapillary RNFL was thickened not only in patients, but also in carriers without any neurological signs of the disease.

Auteur 1

Nom	VAN LINT
Initiales	M
Institut	Dept of Ophthalmology, Brussels University Hospital
Ville	Brussel

Auteur 2

Nom	Hoornaert
Initiales	K
Institut	Dept of Ophthalmology, Ghent University Hospital
Ville	Gent

Auteur 3

Nom	Schmedding
Initiales	E
Institut	Dept of Neurology, Brussels University Hospital
Ville	Brussel

Auteur 4

Nom	Ten Tusscher
Initiales	MPM
Institut	Dept of Ophthalmology, Brussels University Hospital
Ville	Brussel