Now showing items 1-10 of 101
Identification of a novel oligomerization disrupting mutation in CRYAA associated with congenital cataract in a South Australian family
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 ...
Does the association between TMEM98 and nanophthalmos require further confirmation?-Reply
(American Medical Association, 2015-03)
MALDI MS imaging analysis of apolipoprotein E and lysyl oxidase-like 1 in human lens capsules affected by pseudoexfoliation syndrome
Pseudoexfoliation (PEX) syndrome is an age-related systemic disease of the extracellular matrix, characterized by the presence of amyloid-like fibrillar deposits on the anterior lens capsule. The pathological deposits (PEX ...
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 ...
Genetic Dissection of Acute Anterior Uveitis Reveals Similarities and Differences in Associations Observed With Ankylosing Spondylitis
(John Wiley & Sons, 2015)
OBJECTIVE: To use high-density genotyping to investigate the genetic associations of acute anterior uveitis (AAU) in patients with and those without ankylosing spondylitis (AS). METHODS: We genotyped samples from ...
Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus
(Association for Research in Vision and Ophthalmology (ARVO), 2013-07-30)
Keratoconus is a common complex corneal ectasia that can lead to severe visual impairment. Although a genetic component is well recognized, the genetic risk factors for keratoconus are yet to be fully elucidated. A recent ...
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 ...
The status of intercellular junctions in established lens epithelial cell lines
(Emory Eye Centre, 2012-12-12)
Purpose: Cataract is the major cause of vision-related disability worldwide. Mutations in the crystallin genes are the most common known cause of inherited congenital cataract. Mutations in the genes associated with ...
Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma
Purpose To ascertain if single nucleotide polymorphisms (SNPs) involved in the determination of central corneal thickness, optic disc area, and vertical cup-to-disc ratio (VCDR) also are associated with open-angle glaucoma ...