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Identification of a novel oligomerization disrupting mutation in CRYAA associated with congenital cataract in a South Australian family
(Wiley-Blackwell, 2013-03)
Congenital cataract is a heterogeneous disorder causing severe visual impairment in affected children. We screened four South Australian families with autosomal dominant congenital cataract for mutations in 10 crystallin ...
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
(Nature Publishing Group, 2013-02-10)
Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, ...
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1
(Nature Publishing Group, 2011)
A genome-wide association study (GWAS) for open angle glaucoma (OAG) blindness was conducted using a discovery cohort of 590 cases with severe visual field loss and 3956 controls. Genome-wide significant associations were ...
Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration
(Nature Publishing Group, 2016)
Primary open-angle glaucoma (POAG) and age-related macular degeneration (AMD) are leading causes
of irreversible blindness. Several loci have been mapped using genome-wide association studies.
Until very recently, there ...
Review of the prevalence of diabetic retinopathy in Indigenous Australians
(2014)
The purpose of this review is to compare the prevalence of diabetic retinopathy (DR) between Indigenous and non-Indigenous Australians with Diabetes Mellitus (DM). Australian DR prevalence data from 6 Indigenous studies ...
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 ...
GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration
(Nature Publishing Group, 2016-11-28)
Pooled DNA based GWAS to determine genetic association of SNPs with visual acuity (VA) outcome in anti-vascular endothelial growth factor (anti-VEGF) treated neovascular age-related macular degeneration (nAMD) patients. ...
Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error
(Nature Publishing Group, 2016)
Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium ...
Association of eNOS polymorphisms with primary angle-closure glaucoma
(Association for Research in Vision and Ophthalmology, 2013-03)
Purpose: Recently, several studies have investigated genetic associations between Cytochrome P450 (CYP1B1), Endothelial nitric oxide synthase (eNOS) and Neurotrophin-4 (NTF4) with primary angle-closure glaucoma (PACG) in ...