Bilateral rhegmatogenous retinal detachments from giant retinal tears in an infant with abusive head trauma and Stickler syndrome.

ABSTRACT

PURPOSE: To present a rare presentation of abusive head trauma (AHT) in an infant with a hereditary vitreoretinopathy. OBSERVATIONS A two-month-old infant female victim of AHT presented with bilateral rhegmatogenous retinal detachments from giant retinal tears. She had rib fractures, a subdural hematoma, and hyphemas bilaterally. Retinal hemorrhages were not observed. The left eye was repaired by vitrectomy with intermediate-term perfluorocarbon liquid tamponade. Genetic testing demonstrated a pathogenic COL2A1 mutation confirming Stickler syndrome. CONCLUSIONS AND IMPORTANCE Ophthalmic complications of AHT classically manifest as retinal hemorrhages in multiple layers. Instead, bilateral RRDs from GRTs were observed in this infant with Stickler syndrome.