Bilateral pediatric rhegmatogenous retinal detachment in clinically diagnosed Stickler syndrome with unilateral Schwartz-Matsuo syndrome

Abstract Background Stickler syndrome is an inherited connective tissue disorder associated with characteristic vitreous abnormalities and a high risk of pediatric rhegmatogenous retinal detachment (RRD). RRD in this setting can be difficult to manage because causative retinal dialysis may be occult preoperatively and because proliferative vitreoretinopathy may develop rapidly. Case presentation An 8-year-old boy with clinically diagnosed Stickler syndrome presented with bilateral macula-off RRD. He had congenital sensorineural hearing loss, femoral head dysplasia, and spondyloepiphyseal dysplasia congenita. Ocular examination revealed bilateral vitreous liquefaction and membranous, veil-like vitreous opacities. Preoperatively, causative retinal dialysis was not visualized in either eye. The apparent hyperopic refraction in the left eye was considered unreliable because of macula-off detachment and unstable fixation. The clinical course was asymmetric: the right eye developed significant ocular hypertension (43.3 mmHg), consistent with Schwartz-Matsuo syndrome, whereas the left eye remained normotensive. The patient underwent simultaneous bilateral chandelier-assisted scleral buckling. Intraoperatively, temporal retinal dialysis was identified in both eyes. The right eye achieved complete reattachment with normalized IOP. The left eye required secondary vitrectomy for proliferative vitreoretinopathy but subsequently achieved reattachment. Both eyes maintained good visual acuity at the 1.5-year follow-up. Conclusions Pediatric bilateral RRD associated with clinically diagnosed Stickler syndrome may present with asymmetric intraocular pressure and occult retinal dialysis. Careful intraoperative peripheral retinal inspection and a flexible, stepwise surgical strategy combining scleral buckling and vitrectomy may achieve favorable anatomical and visual outcomes.