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

Mov Disord. 2023 Nov 30. doi: 10.1002/mds.29675. Online ahead of print.


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.

PMID:38037516 | DOI:10.1002/mds.29675