Sequential traumatic corneal open globe rupture in a patient with osteogenesis imperfecta type I

To report a case of sequential open globe rupture in a young patient with osteogenesis imperfecta type I following minor accidental blunt injury. This represented the patient's sole clinical manifestation of connective tissue disease, leading to a diagnosis of osteogenesis imperfecta type I at the age of 12 years old.

A 12-year-old male presented with right eye pain following accidental blunt trauma at school while wearing protective lenses. One year ago, he required surgical repair of a left open globe following blunt trauma during a middle school basketball game. His exam was significant for a full-thickness corneal laceration, necessitating open globe repair of his right eye, which was remarkably difficult given the poor tissue constitution of the cornea and sclera. He was referred to a genetics specialist, where he was found to have a pathogenic heterozygous splice site variant in the COL1A1 gene, consistent with osteogenesis imperfecta type I.

Connective tissue disease should be considered in any case of open globe rupture following minor trauma, even in the absence of other clinical manifestations of the disease. The surgical management of these patients is particularly challenging due to the fragility of the connective tissue. Early diagnosis of connective tissue disease is important to preserve visual acuity and prevent further damage to the eyes.