A5054972306- Glaucoma and retinal disorders
- Retinal Diseases and Treatments
- Corneal surgery and disorders
- Retinal Imaging and Analysis
- Skin and Cellular Biology Research
- Ophthalmology and Visual Impairment Studies
- Ocular Surface and Contact Lens
- Connexins and lens biology
- Dermatological and Skeletal Disorders
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Retinopathy of Prematurity Studies
- Environmental and Industrial Safety
- Health and Wellbeing Research
- Cell Adhesion Molecules Research
- Connective tissue disorders research
- Childhood Cancer Survivors' Quality of Life
- Pediatric health and respiratory diseases
- Peptidase Inhibition and Analysis
- Developmental Biology and Gene Regulation
- Coal Combustion and Slurry Processing
- Aerospace, Electronics, Mathematical Modeling
- Family and Disability Support Research
- Health and Well-being Studies
- Genetic Syndromes and Imprinting
- melanin and skin pigmentation
Flinders University
2020-2023
Flinders Medical Centre
2020-2022
Women's and Children's Hospital
2021-2022
To report the relative frequencies of childhood and early onset glaucoma subtypes their genetic findings in a large single cohort.Retrospective clinical molecular study.All individuals with (diagnosed 0 to <18 years) 18 <40 referred national disease registry.We retrospectively reviewed referrals all diagnosed at years age recruited Australian New Zealand Registry Advanced Glaucoma (ANZRAG). Subtypes were determined using Childhood Research Network (CGRN) classification system. DNA extracted...
Glaucoma is a highly heritable disease that leading cause of blindness worldwide. Here, we identified heterozygous thrombospondin 1 (THBS1) missense alleles altering p.Arg1034, evolutionarily conserved amino acid, in 3 unrelated and ethnically diverse families affected by congenital glaucoma, severe form glaucoma affecting children. Thbs1R1034C-mutant mice had elevated intraocular pressure (IOP), reduced ocular fluid outflow, retinal ganglion cell loss. Histology revealed an abundant,...
Abstract Background Ocular coherence tomography angiography (OCTA) is available in varying size and resolution. We sought to characterise associations of cardiometabolic factors with retinal microvascular changes using 3 × 3, 6 8 8‐mm OCTA scans determine differences detection scan size. Methods Cross‐sectional study 247 cardiovascular patients from a single‐centre tertiary‐care hospital. Demographic, comorbidity medication data were obtained. Patients underwent macula scanning Carl Zeiss...
To explore and report on the quality-of-life (QoL) issues encountered by adults with childhood glaucoma. Exploratory qualitative study. Forty-seven participants glaucoma (defined as disease onset <18 years) recruited from Australian New Zealand Registry of Advanced Glaucoma (ANZRAG). A research methodology (interpretive phenomenology) was applied, data were collected through semistructured in-depth interviews. NVivo-12 software (QSR International Pty Ltd) used to inductively analyze code...
Axenfeld-Rieger syndrome encompasses a group of developmental disorders affecting the anterior chamber structures eye, with associated systemic features in some cases. This study aims to compare difference segment phenotypes such as those involving cornea, iris, lens, and angle between cases disease-causing sequence variations FOXC1 PITX2 .This cross-sectional involved 61 individuals, from 32 families pathogenic or variants, who were registered Australian New Zealand Registry Advanced...
To elucidate a potential association between the apolipoprotein E (APOE) E4 allele and glaucoma prevalence in large cohorts.A cross-sectional analysis of baseline prospectively collected cohort data.UK Biobank (UKBB) participants genetically determined European ancestry (n = 438 711). Replication analyses were performed using clinical genotyping data from recruited to Canadian Longitudinal Study Aging (CLSA; n 18 199), Australian New Zealand Registry Advanced Glaucoma (ANZRAG; 1970), Blue...
Abstract Axenfeld‐Rieger syndrome is a genetic condition characterized by ocular and systemic features most commonly caused variants in the FOXC1 or PITX2 genes. Facial dysmorphism part of but differences between both genes have never been systematically assessed. Here, 11 facial traits reported were assessed five clinical geneticists blinded to molecular diagnosis. Individuals drawn from Australian New Zealand Registry Advanced Glaucoma Australia recruited through Genetic Ophthalmology Unit...
To investigate and report on the quality-of-life (QoL) issues experienced by caregivers of individuals with childhood glaucoma. Exploratory, qualitative study. Thirty-five glaucoma (defined as disease onset before 18 years age) recruited from Australian New Zealand Registry Advanced Glaucoma. A research methodology (interpretive phenomenology) was applied. Data were collected through semistructured in-depth interviews. NVivo-12 software (QSR International Pty Ltd) used to analyze, code,...
Purpose: Pseudoexfoliation syndrome (PEX) is a common systemic disease that results in severe and often irreversible vision loss. Despite considerable research effort, PEX remains incompletely understood. This study sought to perform the first RNAseq elucidate pathophysiology of PEX, contribute publicly available transcriptomic data resource for future research. Methods: Human ocular lens capsular epithelium samples were collected from 25 patients with 39 non-PEX controls undergoing cataract...
To investigate the association between apolipoprotein E (APOE) E4 dementia-risk allele and prospective longitudinal retinal thinning in a cohort study of suspect early manifest glaucoma.Retrospective analysis data.This included all available eyes from participants recruited to Progression Risk Glaucoma: Relevant SNPs [single nucleotide polymorphisms] with Significant Association (PROGRESSA) genotyping data which APOE genotypes could be determined.Apolipoprotein alleles were determined...
Purpose: To assess the association between physical activity and spectral-domain optical coherence tomography (SD-OCT)–measured rates of macular thinning in an adult population with primary open-angle glaucoma. Methods: The correlation accelerometer-measured ganglion cell–inner plexiform layer (GCIPL) was measured 735 eyes from 388 participants Progression Risk Glaucoma: RElevant SNPs Significant Association (PROGRESSA) study. cross-sectional SD-OCT thickness then assessed 8862 6152...
Gelsolin (GSN) variants have been implicated in amyloidosis of the Finnish type. This case series reports a novel GSN:c.1477T>C,p.(Trp493Arg) variant family with ocular and systemic features consistent Amyloidosis. Exome sequencing performed on affected individuals from two families manifesting cutis laxa polymorphic corneal stromal opacities demonstrated classic GSN:c.654G>A,p.Asp214Asn single individual one family, previously undocumented GSN:c.1477T>C three first-degree relatives separate...
Objective Childhood glaucoma is a chronic vision-threatening condition that may significantly impact an individual’s psychosocial well-being. There paucity of literature investigating the quality life (QoL) in children with glaucoma. The aim this study was to investigate and report on QoL issues encountered by Design This qualitative interview study. Data were collected through semistructured interviews. NVivo V.12 software (QSR International Pty Ltd, Melbourne, Australia) used analyse code...
To evaluate the association between genetic risk for cardiovascular disease and retinal thinning in early glaucoma.Prospective, observational study.Multicohort study combining a cohort of patients with suspect manifest primary open-angle glaucoma (POAG), perimetric POAG, an external normative control cohort.A score was calculated 828 participants from Progression Risk Glaucoma: Relevant SNPs [single nucleotide polymorphisms] Significant Association (PROGRESSA) study. Participants were...