A5083857271- Glaucoma and retinal disorders
- Ocular Oncology and Treatments
- Retinal Diseases and Treatments
- Ophthalmology and Visual Impairment Studies
- Corneal surgery and disorders
- Intraocular Surgery and Lenses
- Retinopathy of Prematurity Studies
- Ocular Disorders and Treatments
- Mitochondrial Function and Pathology
- Retinal Development and Disorders
- Visual perception and processing mechanisms
- Brain Metastases and Treatment
- Connective tissue disorders research
- Cancer-related Molecular Pathways
- Prenatal Screening and Diagnostics
- Head and Neck Surgical Oncology
- Ophthalmology and Eye Disorders
- Connexins and lens biology
- Health Literacy and Information Accessibility
- Retinal and Optic Conditions
- Photosynthetic Processes and Mechanisms
- Nonmelanoma Skin Cancer Studies
- Polyomavirus and related diseases
- Genomic variations and chromosomal abnormalities
- Reproductive Health and Technologies
Centre for Eye Research Australia
2016-2025
Royal Children's Hospital
2015-2025
The University of Melbourne
2015-2025
Murdoch Children's Research Institute
2023-2024
The Royal Victorian Eye & Ear Hospital
2022
Ophthalmology Associates (United States)
2022
South East Water (Australia)
2020
Singapore Eye Research Institute
2018
Singapore National Eye Center
2018
<h3>Importance</h3> Binocular amblyopia treatment using contrast-rebalanced stimuli showed promise in laboratory studies and requires clinical trial investigation a home-based setting. <h3>Objective</h3> To compare the effectiveness of binocular video game with placebo for improving visual functions older children adults. <h3>Design, Setting, Participants</h3> The Treatment Amblyopia Using Videogames was multicenter, double-masked, randomized trial. Between March 2014 June 2016, 115...
Variation in FOXC1 and PITX2 is associated with Axenfeld-Rieger syndrome, characterised by structural defects of the anterior chamber eye a range systemic features. Approximately half all affected individuals will develop glaucoma, but age at diagnosis phenotypic spectrum have not been well defined. As heterogeneity common, we aimed to delineate age-related penetrance full glaucoma or carriers recruited through national disease registry. All coding exons were directly sequenced multiplex...
We conducted an updated epidemiological study of Leber hereditary optic neuropathy (LHON) in Australia by using registry data to establish the risk vision loss among different LHON mutations, sex, age at onset, and mitochondrial haplogroup. identified 96 genetically unrelated pedigrees, including 56 unpublished 40 previously known comprising 620 affected individuals 4,948 asymptomatic carriers. The minimum prevalence due 2020 was one 68,403 individuals. Although our confirm some...
Abstract Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited movement that maps to chromosome 3q21-q22 and hypothesized result from branchial motor neuron (FBMN) maldevelopment. In the present study, we report HCFP1 results heterozygous duplications within a neuron-specific GATA2 regulatory region includes two enhancers one silencer, noncoding single-nucleotide variants (SNVs) silencer. Some SNVs impair binding NR2F1 silencer in vitro...
Developmental abnormalities of the ocular anterior segment in some cases can lead to hypertension and glaucoma. CPAMD8 is a gene unknown function recently associated with dysgenesis, myopia, ectopia lentis. We sought assess contribution biallelic variants childhood juvenile open-angle glaucoma.Retrospective, multicenter case series.A total 268 probands their relatives diagnosis or glaucoma.Developmental glaucoma.Patients underwent comprehensive ophthalmic assessment, DNA from patients...
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...
Autosomal Dominant Optic Atrophy (ADOA) is the most common inherited optic atrophy where vision impairment results from specific loss of retinal ganglion cells nerve. Around 60% ADOA cases are linked to mutations in OPA1 gene. a fission-fusion protein involved mitochondrial inner membrane remodelling. presents with marked variation clinical phenotype and varying degrees loss, even among siblings carrying identical OPA1. To determine whether degree associated level impairment, we examined...
Abstract Purpose Optical treatment alone can improve visual acuity ( VA ) in children with amblyopia, thus clinical trials investigating additional amblyopia therapies (such as patching or videogames) for require a preceding optical phase. Emerging adult patients are entering trials. It is unknown whether effective adults and an correction phase required involving adults. Methods We examined participants who underwent the Binocular Treatment Amblyopia using Videogames BRAVO trial ANZCTR ID :...
Both primary and secondary forms of childhood glaucoma have many distinct causative mechanisms, in cases a cause is not immediately clear. The broad phenotypic spectrum glaucoma, particularly individuals with variants FOXC1 or PITX2 genes associated Axenfeld-Rieger syndrome, makes it more difficult to diagnose patients milder phenotypes. These are occasionally classified managed as congenital glaucoma.To investigate the prevalence participants suspected diagnosis glaucoma.Australian Italian...
Pedigree analysis showed that a large proportion of Leber hereditary optic neuropathy (LHON) family members who carry mitochondrial risk variant never lose vision. Mitochondrial haplotype appears to be major factor influencing the vision loss from LHON. variants, including m.14484T>C and m.11778G>A, have been added gene arrays, thus many patients research participants are tested for LHON mutations. Analysis UK Biobank Australian cohort studies found more than 1 in 1,000 people general...
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,...
Congenital cataract is the most common cause of treatable visual impairment in children worldwide. Mutations many different genes lead to congenital cataract. Recently, mutations receptor tyrosine kinase gene, EPHA2, have been found six families. Although these findings established EPHA2 as a causative total contribution this gene unknown. In study, for first time, population-based approach was used investigate frequency disease causing inherited cases South-Eastern Australia. A cohort 84...
Amblyopia is a common neurodevelopmental disorder of vision that characterised by visual impairment in one eye and compromised binocular function. Existing evidence-based treatments for children include patching the nonamblyopic to encourage use amblyopic eye. Currently there are no widely accepted available adults with amblyopia. The aim this trial assess efficacy new binocular, videogame-based treatment amblyopia older adults. We hypothesise will significantly improve acuity relative...
High-risk histopathologic features of retinoblastoma are useful to assess the risk systemic metastasis. In this era globe salvage treatments for retinoblastoma, definition high-risk is evolving.To evaluate variations in metastasis different ocular oncology practices around world.An electronic web-based, nonvalidated 10-question survey was sent December 2020 52 oncologists and pathologists treating at referral centers.Anonymized about retinoblastoma.High-risk that determine further treatment...
Childhood cancer outcomes in low- and middle-income countries are impacted by the presentation of advanced disease limited diagnostic treatment resources. Papua New Guinea is highly populated with significant health coverage workforce difficulties, addition to unique geographical political challenges affecting childhood care. With improvements communicable management, care has become an emerging need, managed a dedicated service Port Moresby General Hospital (PMGH). A longstanding...
To review visual acuity outcomes from paediatric traumatic cataract and examine the mechanisms by which they occur.A retrospective of patients (aged less than 18 years) who underwent lens surgery following ocular trauma, between 1992 2006 at Royal Children's Hospital Victorian Eye Ear in Melbourne. Data collected included gender, mechanism injury, wound type, age surgery, refractive rehabilitation, complications outcome.A total 74 (75% male) were identified over 15-year period, representing...
Strabismus represents a complex oculomotor disorder characterized by the deviation of one or both eyes and poor vision. A more sophisticated understanding genetic liability strabismus is required to guide searches for associated molecular variants. In this classical twin study 1,462 pairs, we examined relative influence genes environment in comitant strabismus, degree which these influences can be explained factors common with refractive error. Participants were presence latent (‘phoria’)...
Abstract Aim To determine the incidence and predictors of glaucoma following surgery for congenital infantile cataract in an Australian population. Design Retrospective cohort study. Participants Infants (<12 months) having had lens extraction between January 1992 May 2006, from two tertiary referral centres. Methods Children with uveitis, anterior segment dysgenesis, aniridia, retinopathy prematurity, subluxation were excluded. Potential incident examined using Cox proportional hazards...
Purpose: To identify genetic variants conferring susceptibility to esotropia. Esotropia is the most common form of comitant strabismus, has its highest incidence in European ancestry populations, and believed be inherited as a complex trait. Methods: White American discovery cohorts with nonaccommodative (826 cases 2991 controls) or accommodative (224 749 esotropia were investigated. Australian United Kingdom (689 1448 (66 264 tested for replication. We performed genome-wide case–control...
Nanophthalmos and posterior microphthalmos are ocular abnormalities in which both eyes abnormally small, typically associated with extreme hyperopia. We recruited 40 individuals from 13 kindreds nanophthalmos or microphthalmos, 12 probands subjected to exome sequencing. Nine (69.2%) were assigned a genetic diagnosis, variants MYRF, TMEM98, MFRP, PRSS56. Two of four PRSS56 families harbored the previously described c.1066dupC variant implicated over half all reported kindreds, different...
Abstract Pediatric cataract is a leading cause of childhood blindness. This study aimed to determine the genetic pediatric in Australian families by screening known disease-associated genes using massively parallel sequencing technology. We sequenced 51 previously reported 33 affected individuals with family history (cases or published mutations were excluded) Ion Torrent Personal Genome Machine. Variants prioritized for validation if they predicted alter protein sequence and absent rare...