엑스염색체관련 연소망막층간분리 환자에서 외상 후 발생한 망막박리

Abstract

Purpose To report the case of a 4-year-old male with X-linked juvenile retinoschisis (XLRS) who presented with total retinal detachment of the right eye and inner retinal detachment of the left eye after trauma

Case summary A 4-year-old male patient presented to the emergency department with acute headache and was initially diagnosed with bilateral retinal detachment at a different hospital. Initial intraocular pressure (IOP) was high in the right eye. B-scan ultrasound and optical coherence tomography revealed total retinal detachment of the right eye and inner retinal detachment of the inferior half of the left eye. He was diagnosed with XLRS via genetic analysis, and treatment with acetazolamide stabilized the IOP and prevented further progression of retinoschisis

Conclusions We describe a rare case of XLRS with severe bilateral retinal detachment after eye trauma. Retinal detachment in one eye eventually stabilized with the use of acetazolamide, whereas his fellow eye, which was more severely affected, progressed to phthisis. We hope to collect and analyze more evidence to understand the apparent susceptibility to eye trauma in patients with XLRS to protect their vision in the future.