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. Here, OPTN is linked to neurodegenerative disease.