Visual stimulation therapy in spinocerebellar ataxia type 29: Case report

PurposeTo report a rare case of Spinocerebellar Ataxia type 29 (SCA29) presenting with cerebral visual impairment (CVI), and to describe the functional visual outcomes following visual stimulation therapy (VST).Case ReportA 4-month-old male infant was referred for evaluation of vertical nystagmus and absence of visual fixation. Clinical assessment revealed axial hypotonia and profound visual impairment, confirmed using the VAS CVI-PIMD scale. Neuroimaging was unremarkable, but genetic testing identified a heterozygous c.805C > T (p.Arg269Trp) pathogenic variant in the ITPR1 gene, consistent with SCA29. VST was initiated weekly using high-contrast and brightly colored stimuli. After 20 sessions, the patient showed marked improvement in visual behavior and acuity, progressing from severe CVI to normal classification. Visual gains were objectively tracked with the VAS CVI-PIMD, showing a stepwise functional response to therapy.ConclusionThis case highlights the potential role of early visual rehabilitation in neurogenetic visual dysfunction. VST may offer a valuable intervention for improving visual outcomes in children with rare ataxias and CVI. Structured visual assessment tools can aid in monitoring progress and guiding treatment in similar pediatric presentations.