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Volume 14
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10.3390/jcm14196840
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This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Article

Visual Function Characteristics in STXBP1 Epileptic Encephalopathy Patients

by
Agnieszka Rosa
1,2,*,
Dominika Nowakowska
3,
Piotr Rosa
2,
Justyna Simiera
4,
Andrzej Gliniany
5,
Michał Zawadka
1,
Krzysztof Szczałuba
1,2,
Lukasz Przyslo
5,
Krystyna Szymańska
1,
Piotr Loba
4,
Maciej Gawęcki
6 and
Dorota Pojda-Wilczek
7
1
Department of Pediatric Neurology, Pediatrics and Rare Disorders, Medical University of Warsaw, 02-091 Warsaw, Poland
2
Center of Excellence for Rare and Undiagnosed Disorders, Medical University of Warsaw, 02-091 Warsaw, Poland
3
Department of General and Pediatric Ophthalmology, Medical University of Lublin, 20-059 Lublin, Poland
4
Department of Binocular Vision Pathophysiology and Strabismus, Medical University of Lodz, University Barlicki Hospital No. 1, 90-153 Lodz, Poland
5
Department of Developmental Neurology and Epileptology, Research Institute of Polish Mother’s Memorial Hospital, 93-338 Lodz, Poland
6
Dobry Wzrok Ophthalmological Center, 80-392 Gdansk, Poland
7
Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, Poland
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2025, 14(19), 6840; https://doi.org/10.3390/jcm14196840
Submission received: 13 July 2025 / Revised: 16 September 2025 / Accepted: 23 September 2025 / Published: 26 September 2025
(This article belongs to the Special Issue Clinical Investigations into Diagnosing and Managing Strabismus)
Versions Notes

Abstract

Background: The goal of the study was to describe the visual function characteristics of children with developmental epileptic encephalopathy resulting from mutations in the STXBP1 gene. Methods: The study included 26 consecutive patients from the Polish STXBP1 population (11 male and 16 female; mean age: 7 years and 4 months; SD 4.03; range: 2–16 years) evaluated at a single center for strabismus and binocular vision. Data were obtained from medical records, including ophthalmological, neurological, and genetic information, as well as orthoptic and ophthalmological examinations performed in the clinic. Results: No major eye disorders were identified during the ophthalmological evaluation. The average prevalence of hyperopia was 76.9% (mean for OD, OS), with hyperopia above 4.25 D occurring in 17.3% (n = 4) of participants. Astigmatism was present in 96.2% of patients, with values ≥ 2.75 D in 27% (n = 7) of the group. The mean disc–foveal angle across all subjects was 7.23° ± 6.85° (range: −10.34° to 19.77°). Convergence was absent in 53.8% (n = 14) of patients. Mean accommodation responses equal to or higher than +1.0 D in any eye were noted in 90.5% of subjects. The mean accommodative/convergence (AC/A) ratio was 1.16 (SD 1.05; range: 0–3.3). Fusion was diagnosed using the 20 base-out prism test in 77% (n = 20) of patients, of which 85% (n = 17) had a positive response. Conclusions: This is the first study to comprehensively assess visual function in children with STXBP1 synaptopathy. Binocular vision development in individuals with STXBP1 differs from that of the general population. Considering the high prevalence of refractive errors, deficits in accommodation, and a low AC/A ratio, early visual diagnostics and the use of corrective eyewear are recommended in these patients.
Keywords: STXBP1 synaptopathy; epileptic encephalopathy; visual phenotype; personalized medicine STXBP1 synaptopathy; epileptic encephalopathy; visual phenotype; personalized medicine

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MDPI and ACS Style

Rosa, A.; Nowakowska, D.; Rosa, P.; Simiera, J.; Gliniany, A.; Zawadka, M.; Szczałuba, K.; Przyslo, L.; Szymańska, K.; Loba, P.; et al. Visual Function Characteristics in STXBP1 Epileptic Encephalopathy Patients. J. Clin. Med. 2025, 14, 6840. https://doi.org/10.3390/jcm14196840

AMA Style

Rosa A, Nowakowska D, Rosa P, Simiera J, Gliniany A, Zawadka M, Szczałuba K, Przyslo L, Szymańska K, Loba P, et al. Visual Function Characteristics in STXBP1 Epileptic Encephalopathy Patients. Journal of Clinical Medicine. 2025; 14(19):6840. https://doi.org/10.3390/jcm14196840

Chicago/Turabian Style

Rosa, Agnieszka, Dominika Nowakowska, Piotr Rosa, Justyna Simiera, Andrzej Gliniany, Michał Zawadka, Krzysztof Szczałuba, Lukasz Przyslo, Krystyna Szymańska, Piotr Loba, and et al. 2025. "Visual Function Characteristics in STXBP1 Epileptic Encephalopathy Patients" Journal of Clinical Medicine 14, no. 19: 6840. https://doi.org/10.3390/jcm14196840

APA Style

Rosa, A., Nowakowska, D., Rosa, P., Simiera, J., Gliniany, A., Zawadka, M., Szczałuba, K., Przyslo, L., Szymańska, K., Loba, P., Gawęcki, M., & Pojda-Wilczek, D. (2025). Visual Function Characteristics in STXBP1 Epileptic Encephalopathy Patients. Journal of Clinical Medicine, 14(19), 6840. https://doi.org/10.3390/jcm14196840

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