Visual stimulation therapy in spinocerebellar ataxia type 29: Case report.
Pedro Cardoso-Teixeira, Liliana Cortez, Patrícia Valério et al.
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Case in brief
A 4-month-old boy was referred with vertical nystagmus and absent visual fixation. Examination showed axial hypotonia and profound visual impairment, classified as cerebral visual impairment (CVI) using the VAS CVI-PIMD scale. Neuroimaging was unremarkable; genetic testing found a heterozygous pathogenic ITPR1 variant, c.805C>T (p.Arg269Trp), consistent with spinocerebellar ataxia type 29 (SCA29). During weekly visual stimulation therapy using high-contrast and brightly colored stimuli, visual behavior and acuity improved over 20 sessions, with the CVI classification progressing from severe to normal. The scale tracked stepwise functional gains.
What made this case unusual
SCA29 presented in infancy with profound CVI, vertical nystagmus, and absent fixation despite unremarkable neuroimaging.
Diagnostic / clinical pearl
In an infant with severe visual dysfunction and unremarkable neuroimaging, genetic testing may identify an underlying neurogenetic diagnosis; structured visual assessment can document functional change during rehabilitation.
Why it matters
The case describes substantial visual improvement during early visual stimulation therapy in a child with SCA29 and CVI, supporting consideration of visual rehabilitation in this clinical context.