Retinal Detachment in a Combined Case of Stickler Syndrome and X-Linked Retinoschisis

A 12-year-old boy presented with a total rhegmatogenous retinal detachment and a giant retinal tear in the right eye. Clinical examination, optical coherence tomography, and fundus images showed an optically empty vitreous, lattice degeneration, and retinoschisis of the macula. Genetic testing revealed mutations in the COL2A1 and RS1 genes, confirming a dual diagnosis of Stickler syndrome and X-linked retinoschisis, respectively. This represents the first published account of a patient with both Stickler syndrome and X-linked retinoschisis. [ Ophthalmic Surg Lasers Imaging Retina. 2017;48:83–86.]