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TitelIncreased peripapillary retinal nerve fiber layer thickness as an ophthalmological sign in ARSACS patients and carriers
Abstract Nr.P126
DoelTo describe the ophthalmological findings in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in both disease, and carriers.
MethodesTwo 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.
ResultatenPeripapillary 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.
ConclusieThe 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
NaamVAN LINT
InitialenM
InstituutDept of Ophthalmology, Brussels University Hospital
StadBrussel
Auteur 2
NaamHoornaert
InitialenK
InstituutDept of Ophthalmology, Ghent University Hospital
StadGent
Auteur 3
NaamSchmedding
InitialenE
InstituutDept of Neurology, Brussels University Hospital
StadBrussel
Auteur 4
NaamTen Tusscher
InitialenMPM
InstituutDept of Ophthalmology, Brussels University Hospital
StadBrussel
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