A5021196883- Retinal Diseases and Treatments
- Retinal Development and Disorders
- Retinal and Macular Surgery
- Retinal and Optic Conditions
- Glaucoma and retinal disorders
- Retinal Imaging and Analysis
- Intraocular Surgery and Lenses
- Neonatal Respiratory Health Research
- Ophthalmology and Visual Impairment Studies
- Ocular Diseases and Behçet’s Syndrome
- Cellular transport and secretion
- Ophthalmology and Eye Disorders
- Neuroscience of respiration and sleep
- RNA regulation and disease
- Cell Adhesion Molecules Research
- Retinopathy of Prematurity Studies
- Vascular Malformations Diagnosis and Treatment
- Congenital Diaphragmatic Hernia Studies
- Ophthalmology and Visual Health Research
- Cerebral Venous Sinus Thrombosis
- Neuroinflammation and Neurodegeneration Mechanisms
- Advanced biosensing and bioanalysis techniques
- MicroRNA in disease regulation
- Ubiquitin and proteasome pathways
- Ocular Oncology and Treatments
The University of Western Australia
2020-2025
Lions Eye Institute
2020-2025
The Royal Victorian Eye & Ear Hospital
2023-2025
Centre for Eye Research Australia
2022-2024
Royal Perth Hospital
2021-2022
Canberra Hospital
2019-2020
ACT Government
2019
Australian National University
2014-2019
Background: This study examined the frequency of inherited retinal diseases (IRDs) as reason for blindness registrations over last two decades and demographic clinical phenotypes disease (IRD)-related registrations.Materials methods: Retrospective, observational individuals registered with a state-wide blind vision-impaired registry. Low-vision or blindness-only (≤20/200 ≤20°) certificates issued to children (0-15 years), working-age (16-64 years) older-age (65 older) adults were assessed....
To characterize the genotypic and phenotypic spectrum of foveal hypoplasia (FH).Multicenter, observational study.A total 907 patients with a confirmed molecular diagnosis albinism, PAX6, SLC38A8, FRMD7, AHR, or achromatopsia from 12 centers in 9 countries (n = 523) extracted publicly available datasets previously reported literature 384).Individuals availability OCT scans were identified between January 2011 March 2021. A genetic was by sequence analysis. Grading FH derived scans.Grade FH,...
Purpose: To describe the clinical, electrophysiological and genetic spectrum of inherited retinal diseases associated with variants in PRPH2 gene. Methods: A total 241 patients from 168 families across 15 sites 9 countries pathogenic or likely were included. Records reviewed for age at symptom onset, visual acuity, full-field ERG, fundus colour photography, autofluorescence (FAF), SD-OCT. Images graded into six phenotypes. Statistical analyses performed to determine genotype–phenotype...
Introduction Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) is an X-linked gene critical for nucleotide metabolism. Pathogenic PRPS1 variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy. Multicenter phenotypic studies are limited.
Retinitis pigmentosa 11 (RP11) is caused by dominant mutations in PRPF31, however a significant proportion of mutation carriers do not develop retinopathy. Here, we investigated the relationship between CNOT3 polymorphism, MSR1 repeat copy number and disease penetrance RP11 patients non-penetrant (NPCs). We further characterized PRPF31 expression fibroblasts from eight one NPC family carrying c.1205C>T variant. Retinal organoids (ROs) retinal pigment epithelium (RPE) were differentiated...
Retinitis pigmentosa 11 is an untreatable, dominantly inherited retinal disease caused by heterozygous mutations in pre-mRNA processing factor 31 PRPF31. The expression level of PRPF31 linked to incomplete penetrance affected families; mutation carriers with higher can remain asymptomatic. current study explores antisense oligonucleotide exon skipping strategy treat RP11 truncating within 12 since it does not appear encode any domains essential for protein function. Cells derived from a...
To evaluate the outer retinal bands using OCT in ABCA4- and PRPH2-associated retinopathy develop a novel imaging biomarker to differentiate between these 2 genotypes. Multicenter case-control study. Patients with clinical genetic diagnosis of or an age-matched control group. Macular was used measure thickness 4 by independent examiners at loci. Outcome measures included thicknesses band 2, 4, 2/band ratio. Linear mixed modeling make comparisons across 3 groups. Receiver operating...
Report the age-standardized annual incidence of blindness registration due to age-related macular degeneration (AMD) in Australia patients aged 50 years and older. Frequencies photodynamic therapy (PDT) intravitreal (IVT) were examined.Retrospective observational study.Registry Association for Blind Western with best-corrected visual acuity worse than 20/200 better-seeing eye.Registering as blind or over.Annual over 3 time periods: 1996-2001 (pre-PDT), 2002-2007 (PDT era) 2008-2016 (IVT...
This case report describes an 8-year-old girl who received oral sirolimus as adjuvant therapy for pulse dye laser of her port-wine stain and off-label treatment exudative retinal detachment secondary to diffuse choroidal hemangioma.
Purpose: Biallelic crumbs cell polarity complex component 1 (CRB1) mutations can present as Leber congenital amaurosis (LCA), retinitis pigmentosa (RP), or cystic maculopathy. This study reports a novel phenotype of asymptomatic fenestrated slit maculopathy (AFSM) and examines macular volume profile microperimetry clinical trial end points in CRB1-associated retinopathies. Methods: Twelve patients from nine families with CRB1 mutation were recruited. Ultra-widefield (UWF) color fundus...
PurposeTo investigate atrophy expansion rate (ER) using ultra-widefield (UWF) fundus autofluorescence (FAF) in Stargardt disease (STGD1).DesignRetrospective, longitudinal study.ParticipantsPatients with biallelic ABCA4 mutations who were evaluated UWF FAF and Heidelberg 30° × 55° imaging.MethodsPatients secondary to STGD1 classified into genotype groups: group A, severe or null-like variants early-onset disease; B, 1 intermediate variant trans variant; C, mild late-onset disease. The...
Aim There has been an increased use of heated humidified high flow nasal canula ( HFNC ) in premature babies PBs admitted to our neonatal unit. The aim this study is identify clinical characteristics < 29 weeks gestational age GA that distinguish between those who did not or receive . Methods This compared prospectively collected data from 2010 2012. Comparisons were undertaken <29 received continuous positive airway pressure CPAP : 44/72 (61.1%)) both and (28/72 (38.9%)). Data...
Abstract The application of artificial intelligence in medicine, particularly relation to screening and diagnosis disease through imaging analysis, will have a profound impact over the next decade. This communication discusses regulatory challenges that should be considered by physicians how potential issues may mitigated using collaborative approach, drawing on combined expertise relevant stakeholders.
Purpose: To present the distribution of time to retinal redetachment in eyes undergoing detachment surgery, using a method for adjusting outcome with silicone oil or heavy liquid tamponade (“oil-filled eyes”). Methods: Data from two Australian centers were used. Adjusted was measured date removal oil-filled eyes, unless failure diagnosed situ. Results: 188/1257 failures identified (15.0%). Using unadjusted outcome, occurred later than non–oil-filled (median 57 vs. 28 days, P < 0.001)....
Unequal pupils (anisocoria) may be physiological, pathological or pharmacological. Importantly, anisocoria can indicate underlying disease of the eye, orbit, brain, neck chest. Examination is therefore a crucial part any eye examination.As clinician, it important to determine whether patient with reassured requires referral for further investigation. This review examines anatomy pupillary pathway, and provides structured approach examination pupils. The aim provide clinicians confidence when...
A previous randomised controlled trial (RCT) in babies born < 30 weeks gestation found the so-called CICADA method (ceasing continuous positive airways pressure (CPAP) with a view to remain off rather than slow weaning) significantly reduced CPAP time. Post-RCT we introduced and evaluated whether improved outcomes of during RCT were replicated clinical practice.The aim study is compare cardio-respiratory PBs GA over three epochs: (i) pre RCT, (ii) (iii) post implementation.The used...
PRPF31-associated retinopathy (RP11) is a common form of autosomal dominant retinitis pigmentosa (adRP) that exhibits wide variation in phenotype ranging from non-penetrance to early-onset RP. Herein, we report inter-familial and intra-familial the natural history RP11 using multimodal imaging microperimetry. Patients were recruited prospectively. The age symptom onset, best-corrected visual acuity, microperimetry mean sensitivity (MS), residual ellipsoid zone span hyperautofluorescent ring...
To establish disease progression rates in total lesion size (TLS), decreased autofluorescence (DAF) area, macular volume (TMV), and mean sensitivity (MMS) PRPH2-associated retinal dystrophy.Single-center, retrospective chart review.Patients with heterozygous pathogenic or likely PRPH2 variants.Patients who underwent serial ultrawide-field (UWF) fundus (FAF), OCT, Macular Integrity Assessment microperimetry at least 1 year of follow-up were included. Linear correlation was performed eyes all...