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

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Science  08 Feb 2002:
Vol. 295, Issue 5557, pp. 1077-1079
DOI: 10.1126/science.1066901

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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 itOPTN (for “optineurin”). Sequence alterations inOPTN were found in 16.7% of families with hereditary POAG, including individuals with normal intraocular pressure. TheOPTN 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.

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