Ocular Manifestations in a Cohort of 43 Patients with KBG Syndrome

Abstract

Ophthalmological conditions are underreported in patients with KBG syndrome, which is classically described as presenting with dental, developmental, intellectual, skeletal, and craniofacial abnormalities. This study analyzed the prevalence of four ophthalmological conditions (strabismus, astigmatism, myopia, hyperopia) in 43 patients with KBG syndrome carrying pathogenic variants in ANKRD11 or deletions in 16q24.3 and compared it to the literature. 43 patients were recruited via self-referral or a private Facebook group hosted by the KBG Foundation. Virtual interviews were conducted to collect a comprehensive medical history verified by medical records. From these records, data analysis was performed to calculate the prevalence of ophthalmological conditions. Strabismus was reported in 10 (23.3%) participants, while astigmatism, myopia, and hyperopia were reported in 12 (27.9%), 7 (16.3%), and 9 (20.9%) participants, respectively. Other reported conditions include anisometropia, amblyopia, and nystagmus. When compared to the literature, the prevalence of strabismus and refractive errors is higher than other studies. However, more research is needed to determine if mutations in ANKRD11 play a role in abnormal development of the visual system. In patients with established KBG syndrome, screening for misalignment or refractive errors should be done, as interventions in patients with these conditions can improve functioning and quality of life.