Teaching NeuroImages: Retinopathy in spinocerebellar ataxia type 3

A 17-year-old African Brazilian woman presented with a 1-year history of progressive ataxia, dysarthria, and decreased visual acuity. Family history was remarkable for multiple relatives with similar motor symptoms but no visual complaints. Examination showed upward gaze palsy, dysarthria, ataxia, and increased tone and reflexes. Fundoscopic examination and subsequent optical coherence tomography revealed bilateral atrophic maculopathy (figures 1 and 2). Genetic testing confirmed the diagnosis of spinocerebellar ataxia type 3 (SCA3) by revealing abnormal CAG repeats in the ATXN3 gene—the pathologic allele had 68 repeats and the normal allele 14 repeats.

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