Now showing items 1-10 of 25
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 ...
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
(Springer Nature, 2018-05-14)
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. ...
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 ...
A comparison of endothelial and penetrating keratoplasty outcomes following failed penetrating keratoplasty: a registry study
(BMJ Publishing Group, 2016)
Purpose To compare graft survival and visual outcomes for endothelial keratoplasty (EK) after a first penetrating keratoplasty (PK), with outcomes of repeat PK after a first PK. Methods 400 eyes with a second graft (65 ...
Mutational analysis of MIR184 in sporadic keratoconus and myopia
(Association for Research in Vision and Ophthalmology (ARVO), 2013-08-05)
A mutation miR-184(+57C>T) in the seed region of miR-184 (encoded by MIR184 [MIM*613146]) results in familial severe keratoconus combined with early-onset anterior polar cataract and endothelial dystrophy, iris hypoplasia, ...
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)