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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.
Insights
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.
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.
