The effects of blunt ocular trauma in patients with inherited retinal disease: a multicenter case series

INTRODUCTION: The clinical consequences of ocular trauma in patients with inherited retinal diseases (IRDs) are poorly characterized. This study describes the characteristics, management, and outcomes of ocular trauma in IRD patients. METHODS: A multicenter retrospective case series was conducted across four tertiary ophthalmic centers. Medical records were reviewed to identify patients with genetically confirmed Stargardt disease/ABCA4-associated retinopathy, X-linked retinoschisis (XLRS), PRPH2-associated retinopathy, or pseudoxanthoma elasticum (PXE) who sustained documented ocular trauma. Demographic characteristics, mechanism of injury, ocular findings, visual acuity outcomes, and follow-up data were collected. RESULTS: Sixteen eyes of thirteen patients were included encompassing Stargardt disease (53.8%), Pseudoxanthoma elasticum (30.8%), X-linked retinoschisis (7.7%) and PRPH2-associated retinopathy (7.7%). Mean age at trauma was 19.8 ± 10.4 years, and 92.3% were male. Mean follow-up was 30.6 ± 45.2 months. Sports-related injuries accounted for 69.2% of events, with soccer ball injuries in one-third. No patient was wearing protective eyewear. The most common trauma-related complications included commotio retinae (43.8%) and retinal hemorrhage (25.0%). Commotio retinae developed in 70% of Stargardt-related eyes. Subretinal fibrosis developed in 62.5% of all eyes (10/16). CONCLUSION: Blunt ocular trauma in IRD patients may result in significant retinal complications. Sports-related injuries were the predominant mechanism, highlighting the potential importance of protective eyewear and injury-prevention counseling in this vulnerable population.