Characteristics of eyesight functioning and vision abnormalities in STXBP1 synaptopathy patients

Title : Characteristics of eyesight functioning and vision abnormalities in STXBP1 synaptopathy patients

Abstract:

Introduction: An attempt was made to describe the specificity of children's visual functioning with developmental epileptic encephalopathy resulting from mutations in the STXBP1 gene.

Methods: The study included 26 patients from the Polish STXBP1 population (11 men and 16 women; mean age: 7 years and 4 months; SD 4.03; range: 2–16 years). Data were collected from medical records: ophthalmological, neurological and genetic information. Comprehensive orthoptic and ophthalmological examinations were carried out.

Results: The average prevalence of hyperopia was 94.3%, with hyperopia above 4.25 D occurring in 21.2% of participants. Astigmatism was present in all patients, with values exceeding 2.75 D observed in 26.9% of the group. No major eye diseases were identified during the ophthalmological evaluation. The mean disc-foveal angle (DFA) across all subjects was 7.23° ± 6.85° (range: -10.34° to 19.77°). Convergence was absent in 53.8% (n = 14). The mean of both eyes accommodation responses (MEM) ≥+1.0 D were obtained by 90.5%. The mean AC/A ratio was 1.16 (SD 1.05; range 0 to 3.3). Fusion (20 base out prism test) was diagnosed in 77% (n=20) of patients, of which 85% (n=17) had a positive response.

Conclusions: This study is the first attempt to comprehensively assess visual functioning in children with STXBP1 synaptopathy. Binocular vision development in individuals with STXBP1 differs significantly from the general population. Considering the high prevalence of refractive errors and hypoaccommodation and a low AC/A ratio, the use of corrective eyewear is recommended and provide early visual diagnostics.

Biography:

Dr Agnieszka Rosa, MD, PhD orthoptist, special education specialist, and occupational therapist specializing in the diagnosis and therapy of visual function in children with neurodevelopmental disorders, premature infants, and patients with rare genetic diseases and cortical visual impairment (CVI). She collaborates with three clinical centers and works closely with parent organizations supporting families of children with rare diseases and complex visual disorders. She is also involved in the diagnosis and conservative treatment of binocular vision disorders, strabismus, and nystagmus. Author of numerous scientific publications and therapeutic methods, as well as the book “Sensorimotor Vision Therapy in Practice,” which presents her original concept of therapeutic work with children. Member of the International Pediatric Ophthalmology and Strabismus Council and its national representative in Poland.