Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry.

@article{Souzeau2013HigherPO,
  title={Higher prevalence of myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry.},
  author={Emmanuelle Souzeau and Kathryn P Burdon and Andrew Dubowsky and Scott Grist and Bronwyn Usher and Jude Thomas Fitzgerald and April Crawford and Alex W. Hewitt and Ivan Goldberg and Richard A.D. Mills and Jonathan B Ruddle and John Landers and David A Mackey and Jamie Evan Craig},
  journal={Ophthalmology},
  year={2013},
  volume={120 6},
  pages={1135-43}
}
OBJECTIVES To determine the proportion of all Myocilin coding mutations responsible for advanced primary open-angle glaucoma (POAG) in early-age-at-onset individuals and to investigate the prevalence of exon 3 Myocilin mutations in advanced POAG at any age at onset in a large Australasian cohort. DESIGN Cross-sectional study using a national disease registry. PARTICIPANTS One thousand sixty individuals with advanced POAG (103 with age at onset of 40 years or younger) and 320 with… CONTINUE READING

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