Previous work has linked the OPTN E50K mutant to POAG and has shown that OPTN overexpression causes the formation of large perinuclear foci in cells (Nagabhushana et al., 2010; Park et al., 2006, 2010; Rezaie et al., 2002; Turturro et al., 2014). The gene discussed is OPTN; the disease is open-angle glaucoma.