Now showing items 1-10 of 17
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 ...
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss
(American Medical Association, 2015-07)
Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12
(American Medical Association, 2014)
IMPORTANCE: Nanophthalmos is a congenital disorder characterized by small eyes, with the main complications being severe hyperopia and angle-closure glaucoma. OBJECTIVE: To perform a clinical and genetic investigation ...
Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterisation of the protein in the eye
(Association for Research in Vision and Ophthalmology, 2012-06-06)
Purpose. Glaucoma is the leading cause of irreversible blindness worldwide. Primary open angle glaucoma (POAG) is the most common subtype. We recently reported association of genetic variants at chromosomal loci, 1q24 and ...
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 ...
DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma
(Taylor & Francis Group, 2017-12-21)
Purpose: Recent genome-wide association studies reported strong association of genetic variation at the CDKN2B/CDKN2B-AS1 locus on 9p21 with normal-tension glaucoma (NTG) in multiple populations. The mechanism by which ...
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)