Now showing items 11-20 of 22
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, ...
Screening of the COL8A2 gene in an Australian family with early-onset Fuchs’ endothelial corneal dystrophy
(John Wiley & Sons, Ltd, 2014-03)
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 ...
Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy
(Public Library of Science, 2015)
Primary Open Angle Glaucoma (POAG) is a common neurodegenerative disease characterized by the selective and gradual loss of retinal ganglion cells (RGCs). Aging and increased intraocular pressure (IOP) are glaucoma risk ...
TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases
(Public Library of Science, 2017-08-23)
Fuchs’ endothelial corneal dystrophy (FECD) is a progressive, vision impairing disease. Common single nucleotide polymorphisms (SNPs) and a trinucleotide repeat polymorphism, thymine-guanine-cytosine (TGC), in the TCF4 ...
High throughput genetic screening of 51 paediatric cataract genes identifies causative mutations in inherited paediatric cataract in South Eastern Australia
(Genetics Society of America., 2017-08-24)
Paediatric cataract is a leading cause of childhood blindness. This study aimed to determine the genetic cause of paediatric cataract in Australian families by screening known disease associated genes using massively ...
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 ...
Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka
Background: Pediatric cataract is an important cause of blindness and visual impairment in children. A large proportion of pediatric cataracts are inherited, and many genes have been described for this heterogeneous ...