Now showing items 1-10 of 12
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 ...
Copy Number Variations of TBK1 in Australian Patients With Primary Open-Angle Glaucoma
PURPOSE To investigate the presence of TBK1 copy number variations in a large, well-characterized Australian cohort of patients with glaucoma comprising both normal-tension glaucoma and high-tension glaucoma cases. DESIGN A ...
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 ...
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 ...
Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma
(Association for Research in Vision and Ophthalmology (ARVO), 2016)
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 ...
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.
(Oxford University Press, 2017-01)
Primary open-angle glaucoma (POAG), the most common optic neuropathy, is a heritable disease. Siblings of POAG cases have a ten-fold increase risk of developing the disease. Intraocular pressure (IOP) and optic nerve head ...
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 ...