Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin

By T. Rezaie, A. Child, R. Hitchings, G. Brice, L. Miller, M. Coca‐Prados, E. Héon, T. Krupin, R. Ritch, D. Kreutzer and 2 more. Science, 2002

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Optineurin is an autophagy receptor for damaged mitochondria in parkin-mediated mitophagy that is disrupted by an ALS-linked mutation (2014, background): “Mutations in optineurin lead to primary open-angle glaucoma (18) and amyotrophic lateral sclerosis (ALS) (19), two neurodegenerative diseases in which mitochondrial defects have been observed (20, 21).”
Deciphering the Molecular Signals of PINK1/Parkin Mitophagy. (2016, background): “Mutations in Optineurin have been linked to primary open-angle glaucoma [51] and amyotrophic lateral sclerosis (ALS) [52], raising potentially important links with PINK1/Parkin mitophagy and other forms of neurodegeneration.”
Endoplasmic reticulum stress: molecular mechanism and therapeutic targets (2023, background): “141 Exerting GCs will result in the overload of MYOC levels and ECM proteins in TM cells, which can induce UPR, cause TM dysfunction, and elevate IOP.”
The Nerve Growth Factor Signaling and Its Potential as Therapeutic Target for Glaucoma (2014, background): “identified that OPTN may be an adult-onset glaucoma gene and speculated that wild-type optineurin played a neuroprotective role in the eye and optic nerve through the TNF-α pathway; accordingly, whenOPTNwas defective, it may lead to visual loss and optic neuropathy as typically seen in normal and hi”