Affiliation:
1. Department of Human Genetics NYS Institute for Basic Research in Developmental Disabilities Staten Island New York USA
2. George A. Jervis Clinic, NYS Institute for Basic Research in Developmental Disabilities Staten Island New York USA
3. Biology PhD Program, The Graduate Center, The City University of New York New York New York USA
Abstract
AbstractOphthalmological 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 variants in ANKRD11 or deletions in 16q24.3 and compared it to the literature. Forty‐three patients were recruited via self‐referral or a private Facebook group hosted by the KBG Foundation, with 40 of them having pathogenic or likely pathogenic variants. 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. Out of the 40 participants with pathogenic or likely pathogenic variants, strabismus was reported in 9 (22.5%) participants, while astigmatism, myopia, and hyperopia were reported in 11 (27.5%), 6 (15.0%), and 8 (20.0%) 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 variants 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.
Subject
Genetics (clinical),Genetics
Reference35 articles.
1. Obsessive compulsive symptoms and psychopathological profile in children and adolescents with KBG syndrome;Alfieri P.;Brain Sciences,2019
2. Ear lobe creases: A novel phenotypic feature in KBG syndrome;Ashraf T.;American Journal of Medical Genetics. Part A,2022
3. Epilepsy in KBG syndrome;Auconi M.;Developmental Medicine and Child Neurology,2022
4. The role of p53 in developmental syndromes;Bowen M. E.;Journal of Molecular Cell Biology,2019
5. KBG syndrome;Brancati F.;Orphanet Journal of Rare Diseases,2006