Kathryn P. Burdon
A5049531649- Glaucoma and retinal disorders
- Retinal Diseases and Treatments
- Corneal surgery and disorders
- Connexins and lens biology
- Retinal Imaging and Analysis
- Genetic Associations and Epidemiology
- Corneal Surgery and Treatments
- Intraocular Surgery and Lenses
- Ophthalmology and Eye Disorders
- Retinal Development and Disorders
- Ophthalmology and Visual Impairment Studies
- Genomics and Rare Diseases
- Advanced Glycation End Products research
- Retinopathy of Prematurity Studies
- melanin and skin pigmentation
- Ocular Disorders and Treatments
- Mitochondrial Function and Pathology
- Ocular Surface and Contact Lens
- Multiple Sclerosis Research Studies
- Yersinia bacterium, plague, ectoparasites research
- Connective tissue disorders research
- Proteoglycans and glycosaminoglycans research
- Nitric Oxide and Endothelin Effects
- Atherosclerosis and Cardiovascular Diseases
- Ocular Diseases and Behçet’s Syndrome
University of Tasmania
2016-2025
Flinders University
2013-2022
Flinders Medical Centre
2011-2022
Lions Eye Institute
2022
The University of Western Australia
2022
Mater Research
2022
The University of Melbourne
2022
Translational Research Institute
2022
The University of Queensland
2022
Menzies School of Health Research
2013-2021
Primary congenital glaucoma (PCG) is a devastating eye disease and an important cause of childhood blindness worldwide. In PCG, defects in the anterior chamber aqueous humor outflow structures result elevated intraocular pressure (IOP); however, genes molecular mechanisms involved etiology these have not been fully characterized. Previously, we observed PCG-like phenotypes transgenic mice that lack functional angiopoietin-TEK signaling. Herein, identified rare TEK variants 10 189 unrelated...
Primary open-angle glaucoma (POAG), characterized by retinal ganglion cell death, is a leading cause of irreversible blindness worldwide. However, its molecular and cellular causes are not well understood. Elevated intraocular pressure (IOP) major risk factor, but many patients have normal IOP. Colocalization Mendelian randomization analysis >240 POAG IOP genome-wide association study (GWAS) loci overlapping expression splicing quantitative trait (e/sQTLs) in 49 GTEx tissues retina...
Pseudoexfoliation syndrome is a generalized disorder of the extracellular matrix, characterized by pathological accumulation abnormal fibrillar material in anterior segment eye predisposing to glaucomatous optic neuropathy. We investigated role lysyl oxidase-like 1(LOXL1) sequence variation Caucasian Australian population-based cohort 2508 individuals, 86 (3.4%) whom were diagnosed with pseudoexfoliation syndrome. Two non-synonymous variants exon 1 LOXL1 (Arg141Leu;Gly153Asp) found be...
Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide for which 15 disease-associated loci had been discovered. Among them, only 5 have associated with POAG in Asians. We carried out a genome-wide association study and replication that included total 7378 cases 36 385 controls from Japanese population. After combining two sets, we identified 11 POAG-associated loci, including 4 known (CDKN2B-AS1, ABCA1, SIX6 AFAP1) 7 novel (FNDC3B, ANKRD55-MAP3K1, LMX1B,...
Central corneal thickness (CCT), one of the most highly heritable human traits (h2 typically>0.9), is important for diagnosis glaucoma and a potential risk factor susceptibility. We conducted genome-wide association studies in five cohorts from Australia United Kingdom (total N = 5058). Three were based on individually genotyped twin collections, with remaining two pooled samples singletons extreme trait values. The sample findings validated by individual genotyping together additional also...
Abstract The structure of the cornea is vital to its transparency, and dystrophies that disrupt corneal organization are highly heritable. To understand genetic aetiology Fuchs endothelial dystrophy (FECD), most prevalent disorder requiring transplantation, we conducted a genome-wide association study (GWAS) on 1,404 FECD cases 2,564 controls European ancestry, followed by replication meta-analysis, for total 2,075 3,342 controls. We identify three novel loci meeting significance ( P <5 ×...
Keratoconus is a progressive disorder of the cornea that can lead to severe visual impairment or blindness. Although several genomic regions have been linked rare familial forms keratoconus, no genes yet definitively identified for common disease.Two genome-wide association scans were undertaken in parallel. The first used pooled DNA from an Australian cohort, followed by typing top-ranked single-nucleotide polymorphisms (SNPs) individual samples. second was conducted individually genotyped...