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

Jared J Ebert; Virginia M Utz; Robert A Sisk

doi:10.1016/j.ajoc.2019.100581

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

Am J Ophthalmol Case Rep. 2019 Dec 23:17:100581. doi: 10.1016/j.ajoc.2019.100581. eCollection 2020 Mar.

Authors

Jared J Ebert¹, Virginia M Utz², Robert A Sisk^{1

2

3}

Affiliations

¹ Department of Ophthalmology, University of Cincinnati, Cincinnati, OH, USA.
² Abrahamson Pediatric Eye Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
³ Cincinnati Eye Institute, Cincinnati, OH, USA.

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.

Keywords: Abusive head trauma; Giant retinal tear; Non-accidental trauma; Perfluorocarbon liquid; Retinal detachment; Stickler syndrome.

Publication types

Case Reports