Adult-onset primary open-angle glaucoma caused by mutations in optineurin

Tayebeh Rezaie, Anne Child, Roger Hitchings, Glen Brice, Lauri Miller, Miguel Coca-Prados, Elise Héon, Theodore Krupin, Robert Ritch, Donald Kreutzer, R. Pitts Crick, Mansoor Sarfarazi

Research output: Contribution to journalArticlepeer-review

991 Scopus citations

Abstract

Primary open-angle glaucoma (POAG) affects 33 million individuals worldwide and is a leading cause of blindness. In a study of 54 families with autosomal dominantly inherited adult-onset POAG, we identified the causative gene on chromosome 10p14 and designated it OPTN (for "optineurin"). Sequence alterations in OPTN were found in 16.7% of families with hereditary POAG, including individuals with normal intraocular pressure. The OPTN gene codes for a conserved 66-kilodalton protein of unknown function that has been implicated in the tumor necrosis factor-α signaling pathway and that interacts with diverse proteins including Huntingtin, Ras-associated protein RAB8, and transcription factor IIIA. Optineurin is expressed in trabecular meshwork, nonpigmented ciliary epithelium, retina, and brain, and we speculate that it plays a neuroprotective role.

Original languageEnglish
Pages (from-to)1077-1079
Number of pages3
JournalScience
Volume295
Issue number5557
DOIs
StatePublished - 8 Feb 2002
Externally publishedYes

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