Title : 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 the presentation of dental, developmental, intellectual, skeletal, and craniofacial abnormalities. KBG syndrome is diagnosed by the identification of variants in the ANKRD11 gene on chromosome 16. This study analyzed the prevalence of four ophthalmological conditions (strabismus, astigmatism, myopia, hyperopia) in a cohort of 43 patients with KBG syndrome carrying pathogenic variants in ANKRD11 or deletions in 16q24.3 that includes ANKRD11 and compared it to the literature. 43 patients from 12 countries with KBG syndrome 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, with details verified by medical records submitted by the patient. From these records, data analysis was performed to calculate the prevalence of strabismus, astigmatism, hyperopia, and myopia, as well as other ophthalmological conditions. Strabismus was reported in 10 (23.26%) participants, while astigmatism, myopia, and hyperopia were reported in 12 (27.91%), 7 (16.28%), and 9 (20.93%) participants, respectively. Other conditions reported to a lower extent included anisometropia, amblyopia, and nystagmus. Overall, 27 (62.79%) participants reported at least one ophthalmological condition. When compared to the literature, the prevalence of strabismus and refractive errors in our cohort of patients with KBG syndrome 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 these patients. 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.
Audience Take Away Notes:
- The audience will be introduced to an expanded phenotype surrounding the rare neurodevelopmental condition of KBG syndrome, which has classically been associated with skeletal, craniofacial, and developmental abnormalities. Cardiovascular conditions have already been investigated in KBG syndrome, but there may be a need to determine if there is a genetic etiology of vision problems in KBG syndrome
- From this descriptive analysis, the audience will understand that in our cohort of patients with KBG syndrome, the prevalence of several ocular conditions is higher than reported in the general population. While strabismus and refractive errors were the most reported, many other patients reported other ocular conditions
- Audience members who are clinicians that may encounter patients with KBG syndrome will hopefully understand that a thorough ophthalmological exam may be warranted as part of routine management. Early intervention in ocular misalignments and refractive errors is crucial in preventing permanent visual problems and improving the quality of life in patients
- Other researchers who are exploring the role ANKRD11 has in the development of KBG syndrome’s phenotype should consider exploring the role variants in this gene have on development of the visual system or related systems that assist in visual acuity and ocular alignment
