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

@article{Rezaie2002AdultonsetPO,
  title={Adult-onset primary open-angle glaucoma caused by mutations in optineurin.},
  author={Tayebeh M Rezaie and Anne Child and Roger Hitchings and Glen Brice and Lauri J Miller and Miguel Coca-Prados and Elise H{\'e}on and Theodore Krupin and Robert Ritch and Donald Kreutzer and Ronald Pitts Crick and Mansoor Sarfarazi},
  journal={Science},
  year={2002},
  volume={295 5557},
  pages={1077-9}
}
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… CONTINUE READING
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