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Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin
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.
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Citations
Cited by
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State of play in amyotrophic lateral sclerosis genetics
Renton, A. E., Chiò, A., & Traynor, B. J. (2014) · Nature Neuroscience · doi:10.1038/nn.3584 · Cited by 1,544
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Self-citationMutations of optineurin in amyotrophic lateral sclerosis
Maruyama, H., Morino, H., Ito, H., Izumi, Y., Kato, H., Watanabe, Y., Kinoshita, Y., Kamada, M., Nodera, H., Suzuki, H., et al. (2010) · Nature · doi:10.1038/nature08971 · Cited by 1,265
Metadata
- Authors
- Rezaie, T., Child, A., Hitchings, R., Brice, G., Miller, L., Coca-Prados, M., Héon, E., Krupin, T., Ritch, R., Kreutzer, D., Crick, R. P., & Sarfarazi, M.
- Venue
- Science
- Published
- 2002-02-08
- Volume
- 295
- Issue
- 5557
- Pages
- 1077-1079
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2154886355
- Cited by
- 1,105
- References
- 0
- FWCI
- 47.13
- Type
- journal article
- Language
- en
- Open access
- closed
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- Rezaie, T., Child, A., Hitchings, R., Brice, G., Miller, L., Coca-Prados, M., Héon, E., Krupin, T., Ritch, R., Kreutzer, D., Crick, R. P., & Sarfarazi, M. (2002). Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin. Science. https://doi.org/10.1126/science.1066901
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