Now showing items 31-40 of 69
Differential Gene Expression Profiling of Orbital Adipose Tissue in Thyroid Orbitopathy
(Association for Research in Vision and Ophthalmology (ARVO), 2015)
PURPOSE. We aimed to determine differentially expressed genes relevant to orbital inflammation and orbital fat expansion in thyroid orbitopathy (TO) using microarray gene profiling in a case-control study. METHODS. Human ...
Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia.
(Public Library of Science, 2013)
Congenital cataract is the most common cause of treatable visual impairment in children worldwide. Mutations in many different genes lead to congenital cataract. Recently, mutations in the receptor tyrosine kinase gene, ...
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 ...
PAX6 molecular analysis and genotype–phenotype correlations in families with aniridia from Australasia and Southeast Asia
(Molecular Vision, 2018-03-28)
Purpose Aniridia is a congenital disorder caused by variants in the PAX6 gene. In this study, we assessed the involvement of PAX6 in patients with aniridia from Australasia and Southeast Asia. Methods Twenty-nine ...
Screening of the COL8A2 gene in an Australian family with early-onset Fuchs’ endothelial corneal dystrophy
(John Wiley & Sons, Ltd, 2014-03)
Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent
(Investigative Ophthalmology and Visual Science, 2017-12)
Purpose: The Zinc Finger Protein 469 (ZNF469) gene has been proposed as a candidate gene for keratoconus due to the association of an upstream polymorphism (rs9938149) with the disease in two independent studies, and the ...
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
(Nature Publishing Group, 2017-05-29)
Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further ...
Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract
(Nature Publishing Group, 2017-03-08)
Congenital cataract is a rare but severe paediatric visual impediment, often caused by variants in one of several crystallin genes that produce the bulk of structural proteins in the lens. Here we describe a pedigree with ...
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
(Nature Publishing Group, 2014-09)
Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of ...