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

Purpose	To describe the ophthalmological findings in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in both disease, and carriers.
Methods	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.
Results	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.

Authors 1

Last name	VAN LINT
Initials	M
Department	Dept of Ophthalmology, Brussels University Hospital
City	Brussel

Authors 2

Last name	Hoornaert
Initials	K
Department	Dept of Ophthalmology, Ghent University Hospital
City	Gent

Authors 3

Last name	Schmedding
Initials	E
Department	Dept of Neurology, Brussels University Hospital
City	Brussel

Authors 4

Last name	Ten Tusscher
Initials	MPM
Department	Dept of Ophthalmology, Brussels University Hospital
City	Brussel