West Syndrome and Ocular Alterations: Investigating the Ophthalmological Repercussions Associated with West Syndrome

Abstract

Introduction: West Syndrome (WS) is a rare epileptic encephalopathy of infancy, characterized by infantile spasms, neuropsychomotor developmental delay, and the electroencephalographic pattern of hypsarrhythmia. Although its primary manifestations are neurological,
systemic repercussions—particularly ophthalmological—have been increasingly recognized. Ocular changes such as strabismus, nystagmus, visual acuity deficits, and retinal abnormalities significantly impact prognosis and quality of life, underscoring the need for clinical attention. Methods: A systematic literature review was conducted following the PRISMA protocol. Full-text articles were searched in PubMed, SciELO, and Scopus databases between 2018 and 2025. Initially, 189 studies were identified through titles, abstracts, and keywords. After applying inclusion criteria—studies addressing WS and ocular alterations in human populations—18 articles were fully reviewed, and 10 met all eligibility requirements. Article selection and analysis were performed independently by two reviewers, with disagreements resolved by a third evaluator to ensure reliability. Results: Findings revealed a high prevalence of ocular motility abnormalities (strabismus and nystagmus) among WS patients, frequently associated with stereopsis loss and impaired fine motor development. Visual acuity reduction, visual field deficits, optic nerve atrophy or hypoplasia, and retinal toxicity secondary to vigabatrin
use were also reported. Ophthalmological repercussions remain underdiagnosed but exert a significant impact on cognitive, motor, and psychosocial outcomes. Early interventions, including visual rehabilitation and systematic ophthalmic monitoring, demonstrated potential to enhance brain plasticity and functional visual outcomes. Conclusion: Ophthalmological alterations in WS highlight the urgent need for integrated protocols between neurology and ophthalmology. Early detection and multidisciplinary management are essential to prevent complications, optimize child development, and provide holistic care tailored to patients’ and families’ needs.