Four different missense mutations (two known and two novel) were detected in six probands in COL2A1. Proband 20, with c.4385C > T (p.Arg1459Cys), developed retinal detachment in the right eye at the age of 19, following which they underwent pars plana vitrectomy (PPV), and glaucoma in their left eye at the age of 30. Here, COL2A1 is linked to retinal detachment.