OPTN and glaucoma: In recent years, genetic variations of OPTN received particular attention due to the crucial pathophysiological roles of defective OPTN in many neurodegenerative diseases such as primary open-angle glaucoma (POAG) and amyotrophic lateral sclerosis (ALS), two progressive neurological disorders characterized by degenerations of retinal ganglion cells and motor neurons, respectively18, 28, 29, 30.