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Abstract #113255 Published in IGR 24-3
Optic Disc and Retinal Architecture Changes in Patients with Spinocerebellar Ataxia Type 2
Rezende Filho FM; Jurkute N; de Andrade JBC; Marianelli BF; de Lima FD; França MC; Sallum JMF; Yu-Wai-Man P; Barsottini OGP; Pedroso JLMovement disorders : official journal of the Movement Disorder Society 2024; 39: 203-209
BACKGROUND: ATXN2 is the causative gene of spinocerebellar ataxia type 2 (SCA2) and has been implicated in glaucoma pathogenesis. Therefore, studying ocular changes in SCA2 could uncover clinically relevant changes. OBJECTIVE: The aim was to investigate optic disc and retinal architecture in SCA2. METHODS: We evaluated 14 patients with SCA2 and 26 controls who underwent intraocular pressure measurement, fundoscopy, and macular and peripapillary spectral domain optical coherence tomography (SD-OCT). We compared SD-OCT measurements in SCA2 and controls, and the frequency of glaucomatous changes among SCA2, controls, and 76 patients with other SCAs (types 1, 3, 6, and 7). RESULTS: The macula, peripapillary retinal nerve fiber and inner plexiform layers were thinner in SCA2 than in controls. Increased cup-to-disc ratio was more frequent in SCA2 than in controls and other SCAs. CONCLUSIONS: Ocular changes are part of SCA2 phenotype. Future studies should further investigate retinal and optic nerve architecture in this disorder. © 2023 International Parkinson and Movement Disorder Society.
Division of General Neurology and Ataxia Unit, Department of Neurology, Universidade Federal de São Paulo, Sao Paulo, Brazil.
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