Optic Disc and Retinal Architecture Changes in Patients with Spinocerebellar Ataxia Type 2

Abstract

AbstractBackground 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.ObjectiveThe aim was to investigate optic disc and retinal architecture in SCA2.MethodsWe 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).ResultsThe 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.ConclusionsOcular changes are part of SCA2 phenotype. Future studies should further investigate retinal and optic nerve architecture in this disorder.