Bilateral rhegmatogenous retinal detachment due to unusual retinal degeneration in Down syndrome: A case report

RATIONALE: The aim of this study was to report a case of Down syndrome (DS) complicated with bilateral retinal detachment (RD) due to unusual retinal degeneration. PATIENT CONCERNS: A 9-year-old girl complained of bilateral visual disturbance during a follow-up examination for myopia and strabismus. DIAGNOSES: Slit-lamp examination revealed moderate posterior subcapsular cataract in both eyes. B-mode echography showed bilateral bullous RD; however, it was difficult to detect the causal retinal breaks due to poor mydriasis. INTERVENTIONS: For treatment, the patient underwent bilateral lensectomy, vitrectomy, and silicone oil tamponade. OUTCOMES: Intraoperative findings revealed symmetrical retinal breaks and unusual caterpillar-like retinal degeneration on the upper temporal side of both eyes. Three months later, the patient underwent bilateral silicone oil removal and intraocular lens implantation. LESSONS: In this case, the retinal degeneration was morphologically different from retinal lattice degeneration, thus suggesting that it might be involved in the onset of DS-related bilateral RD.