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Visual Function Characteristics in STXBP1 Epileptic Encephalopathy Patients
Agnieszka Rosa1,2, Dominika Nowakowska3, Piotr Rosa2
1Department of Pediatric Neurology, Pediatrics and Rare Disorders, Medical University of Warsaw, 02-091 Warsaw, Poland.
Journal of Clinical Medicine
|October 16, 2025
Summary
Children with STXBP1 gene mutations often have vision problems like hyperopia and astigmatism. Early vision checks and glasses are crucial for managing their binocular vision development.
Area of Science:
- Ophthalmology
- Genetics
- Neurology
Background:
- Developmental epileptic encephalopathy associated with STXBP1 gene mutations presents unique challenges.
- Understanding the visual function in these children is critical for comprehensive care.
Purpose of the Study:
- To characterize the visual function in children diagnosed with STXBP1 synaptopathy.
- To identify common ophthalmological and binocular vision abnormalities in this population.
Main Methods:
- Retrospective analysis of 26 pediatric patients with STXBP1 mutations.
- Ophthalmological, neurological, genetic, and orthoptic evaluations were performed.
- Assessment included refractive errors, strabismus, accommodation, convergence, and fusion.
Main Results:
- High prevalence of refractive errors: 76.9% hyperopia, 96.2% astigmatism.
- Absence of convergence in 53.8% of patients.
- Accommodation deficits and a low accommodative/convergence (AC/A) ratio were observed.
Conclusions:
- This study provides the first comprehensive assessment of visual function in STXBP1 synaptopathy.
- Binocular vision development in STXBP1 patients significantly deviates from the general population.
- Early visual diagnostics and corrective interventions are recommended.
