Treacher Collins Syndrome, Intellectual Disability, and Self-Inflicted Bilateral Traumatic Cataracts: A Case Report

Abstract

Introduction: Treacher Collins syndrome is a congenital craniofacial disorder with unique ocular signs and an increased risk of a variety of visual abnormalities, including strabismus and amblyopia. Although most patients with Treacher Collins syndrome are of average intelligence, it can also be present in patients with intellectual disabilities. Patients with autism spectrum disorder and/or intellectual disability are at risk for developing selfinjurious behavior, which is often directed at the head and face. Traumatic cataracts are one of the more serious injuries that can occur secondary to this behavior. When cataracts become visually significant, extraction is required. After cataract extraction, aphakia can be corrected with intraocular lenses, glasses, or contact lenses. Case Report: A 6-year-old African American male with Treacher Collins syndrome, intellectual disability, hearing impairment, and autism spectrum disorder presented with bilateral traumatic cataracts secondary to selfinjurious behavior. His vision declined rapidly as the cataracts progressed. His mobility became extremely limited and he was no longer able to fixate on faces. After cataract extraction, the patient was left aphakic due to an increased risk of complications from ongoing self-injurious behavior directed at the eyes and face. He was prescribed aphakic sports goggles due to these behaviors and his external ear malformation. He will be considered for secondary intraocular lens implantation in the future. Conclusion: Patients with Treacher Collins syndrome and those who exhibit self-injurious behavior are at an increased risk for developing ocular abnormalities and should be monitored closely. For pediatric patients with cataracts, the decision whether or not to proceed with an intraocular lens insertion should be based on the patient’s behaviors, visual demands, and age. When choosing a treatment approach, it is essential to evaluate the patient’s lifestyle and visual demands, not just the diagnosis.