Now showing items 1-10 of 12
Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment
Glaucoma is a sight-threatening disease affecting 3% of the population over the age of 50. Glaucoma is treatable, and severe vision loss can usually be prevented if diagnosis is made at an early stage. Genetic factors play ...
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma
(Nature Publishing Group, 2014-10)
Primary open-angle glaucoma (POAG) is a major cause of irreversible blindness worldwide. We performed a genome-wide association study in an Australian discovery cohort comprising 1,155 cases with advanced POAG and 1,992 ...
Higher prevalence of Myocilin mutations in advanced glaucoma in comparison with less advanced disease in an Australasian disease registry
The prevalence of Myocilin mutations in glaucoma cases with severe visual field loss is significantly greater than in nonadvanced glaucoma patients. Myocilin screening in phenotypically selected cases can have a much higher ...
Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma
(Association for Research in Vision and Ophthalmology, Inc., 2017-03)
Purpose: Primary open-angle glaucoma (POAG) and primary congenital glaucoma (PCG) with Mendelian inheritance are caused by mutations in at least nine genes. Utilizing whole-exome sequencing, we examined the disease burden ...
Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals.
(American Academy of Ophthalmology, 2016-12-16)
Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants
(Nature Publishing Group, 2017-05-17)
Variation in FOXC1 and PITX2 is associated with Axenfeld-Rieger syndrome, characterised by structural defects of the anterior chamber of the eye and a range of systemic features. Approximately half of all affected individuals ...
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity
(American Society for Clinical Investigation, 2016)
Primary congenital glaucoma (PCG) is a devastating eye disease and an important cause of childhood blindness worldwide. In PCG, defects in the anterior chamber aqueous humor outflow structures of the eye result in elevated ...
Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma
(Springer Nature, 2018-07-27)
Intraocular pressure (IOP) is currently the sole modifiable risk factor for primary open-angle glaucoma (POAG), one of the leading causes of blindness worldwide. Both IOP and POAG are highly heritable. We report a combined ...
CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma
(Molecular Vision, 2015-02-11)
Purpose: To evaluate the prevalence and the diagnostic utility of testing for CYP1B1 copy number variation (CNV) in primary congenital glaucoma (PCG) cases unexplained by CYP1B1 point mutations in The Australian and New ...
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma
(Nature Publishing Group, 2018-02-18)
Open-angle glaucoma (OAG) is a major cause of blindness worldwide. To identify new risk loci for OAG, we performed a genome-wide association study in 3,071 OAG cases and 6,750 unscreened controls, and meta-analysed the ...