BACKGROUND: Myelinated retinal nerve fibers are considered a hallmark of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in French Canadian patients. The demonstration of a worldwide distribution of this disease, as well as the almost invariable presence of a normal retina on fundoscopy in cases outside Canada, suggests that more quantitative methodologies are needed to assess the retina in ARSACS. METHODS: To characterize better the retinal features of ARSACS, we studied five Italian patients by means of optical coherence tomography (OCT), a processing method that allows the creation of three-dimensional images with micrometer resolution. We compared OCT characteristics in ARSACS with those obtained from five subjects with persistent myelination of the retina, a rare congenital non-progressive anomaly. RESULTS: Four patients with ARSACS showed myelinated retinal nerve fibers on ophthalmoscopy, corresponding to an increased thickness of the retina on OCT, a characteristic not present in the subjects with persistent myelination of the retina. CONCLUSIONS: Myelinated retinal fibers are not rare in Italian patients with ARSACS. This finding may be the consequence of the thickening of the retina, as detected by OCT.
BACKGROUND:Myelinated retinal nerve fibers are considered a hallmark of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in French Canadian patients. The demonstration of a worldwide distribution of this disease, as well as the almost invariable presence of a normal retina on fundoscopy in cases outside Canada, suggests that more quantitative methodologies are needed to assess the retina in ARSACS. METHODS: To characterize better the retinal features of ARSACS, we studied five Italian patients by means of optical coherence tomography (OCT), a processing method that allows the creation of three-dimensional images with micrometer resolution. We compared OCT characteristics in ARSACS with those obtained from five subjects with persistent myelination of the retina, a rare congenital non-progressive anomaly. RESULTS: Four patients with ARSACS showed myelinated retinal nerve fibers on ophthalmoscopy, corresponding to an increased thickness of the retina on OCT, a characteristic not present in the subjects with persistent myelination of the retina. CONCLUSIONS:Myelinated retinal fibers are not rare in Italian patients with ARSACS. This finding may be the consequence of the thickening of the retina, as detected by OCT.
Authors: José Gazulla; Isabel Benavente; Ana Carmen Vela; Miguel Angel Marín; Luis Emilio Pablo; Alessandra Tessa; María Rosario Barrena; Filippo Maria Santorelli; Claudia Nesti; Pedro Modrego; María Tintoré; José Berciano Journal: J Neurol Date: 2011-10-13 Impact factor: 4.849
Authors: Roxanne Larivière; Rébecca Gaudet; Benoit J Gentil; Martine Girard; Talita Cristiane Conte; Sandra Minotti; Kim Leclerc-Desaulniers; Kalle Gehring; R Anne McKinney; Eric A Shoubridge; Peter S McPherson; Heather D Durham; Bernard Brais Journal: Hum Mol Genet Date: 2014-09-26 Impact factor: 6.150
Authors: K K Oguz; G Haliloglu; C Temucin; R Gocmen; A C Has; K Doerschner; A Dolgun; M Alikasifoglu Journal: AJNR Am J Neuroradiol Date: 2013-04-18 Impact factor: 3.825
Authors: Elena Garcia-Martin; Luis E Pablo; Jose Gazulla; Vicente Polo; Antonio Ferreras; Jose M Larrosa Journal: Br J Ophthalmol Date: 2012-10-17 Impact factor: 4.638