A5066948418- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Glaucoma and retinal disorders
- Retinal and Optic Conditions
- Retinal Imaging and Analysis
- Photoreceptor and optogenetics research
- Ophthalmology and Visual Impairment Studies
- Ocular Diseases and Behçet’s Syndrome
- RNA regulation and disease
- Visual perception and processing mechanisms
- Ocular and Laser Science Research
- Retinopathy of Prematurity Studies
- Corneal surgery and disorders
- Retinal and Macular Surgery
- Intraocular Surgery and Lenses
- Drug-Induced Ocular Toxicity
- Neural dynamics and brain function
- Genetics and Neurodevelopmental Disorders
- Lysosomal Storage Disorders Research
- Ocular Oncology and Treatments
- Cerebral Venous Sinus Thrombosis
- Retinoids in leukemia and cellular processes
- Genomics and Rare Diseases
- Systemic Lupus Erythematosus Research
- Neuroscience and Neural Engineering
University College London
2016-2025
Moorfields Eye Hospital
2016-2025
King's College London
2016-2025
Moorfields Eye Hospital NHS Foundation Trust
2015-2025
University of Cambridge
2015-2025
St Thomas' Hospital
2016-2025
Wills Eye Hospital
2024-2025
Institute of Ophthalmology
2017-2024
Guy's and St Thomas' NHS Foundation Trust
2020-2024
National Institute for Health Research
2016-2024
PurposeIn a large cohort of molecularly characterized inherited retinal disease (IRD) families, we investigated proportions with attributable to causative variants in each gene.DesignRetrospective study electronic patient records.ParticipantsPatients and relatives managed the Genetics Service Moorfields Eye Hospital whom molecular diagnosis had been identified.MethodsGenetic screening used combination single-gene testing, gene panel whole exome sequencing, more recently, genome sequencing....
Inherited retinal disease (IRD) is a leading cause of blindness. Recent advances in gene-directed therapies highlight the importance understanding genetic basis these disorders. This study details molecular spectrum large UK IRD patient cohort. Retrospective electronic records. Patients with who have attended Genetics Service at Moorfields Eye Hospital between 2003 and July 2020, whom diagnosis has been identified. Genetic testing was undertaken via combination single-gene testing, gene...
Modern cataract surgery is safe in more than 95 per cent of patients. In the small number cases where a serious complication occurs, most common an intra-operative posterior capsular rupture. This can lead to vitreous loss or dropped nucleus and increase risk post-operative cystoid macular oedema retinal detachment. Post-operatively, opacification be readily treated with YAG capsulotomy. The devastating endophthalmitis, rate which now significantly decreased through use intracameral...
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together U5 and ∼30 proteins, is part of U4/U6.U5 tri-snRNP complex, located at core major spliceosome. Recently, recurrent de novo variants in RNA, transcribed from RNU4-2 gene, least two other RNU genes were discovered to cause neurodevelopmental disorder. We detected inherited heterozygous (n.18_19insA n.56T>C) four out five RNU6 paralogues (n.55_56insG n.56_57insG) 135 individuals 62 families non-syndromic retinitis...
To describe the earliest features of ABCA4-associated retinopathy.Case series.Children with a clinical and molecular diagnosis retinopathy without evidence macular atrophy.The retinal phenotype was characterized by color fundus photography, OCT, autofluorescence (FAF) imaging, electroretinography, in 2 patients, adaptive optics scanning laser ophthalmoscopy (AOSLO). Sequencing ABCA4 gene performed all patients.Visual acuity, FAF, AOSLO results.Eight children atrophy were identified....
PurposeRare disease diagnosis is challenging in medical image-based artificial intelligence due to a natural class imbalance datasets, leading biased prediction models. Inherited retinal diseases (IRDs) are research domain that particularly faces this issue. This study investigates the applicability of synthetic data improving AI-enabled IRDs using Generative Adversarial Networks (GANs).DesignDiagnostic gene-labeled fundus autofluorescence (FAF) IRD images Deep Learning...
PURPOSETo analyze the clinical characteristics, natural history, and genetics of CRB1-associated retinal dystrophies.DESIGNMulticenter international retrospective cohort study.METHODSReview notes, ophthalmic images, genetic testing results 104 patients (91 probands) with disease-causing CRB1 variants. Macular optical coherence tomography (OCT) parameters, visual function, fundus associations between variables were main outcome measures.RESULTSThe mean age at first visit was 19.8 ± 16.1...
To date, over 150 disease-associated variants in CRB1 have been described, resulting a range of retinal disease phenotypes including Leber congenital amaurosis and retinitis pigmentosa. Despite this, no genotype–phenotype correlations are currently recognised. We performed retrospective review electronic patient records to identify patients with macular dystrophy due bi-allelic CRB1. In total, seven unrelated individuals were identified. The median age at presentation was 21 years, acuity...
Photoreceptor cells (PRCs) are the light-detecting of retina. Such can be non-invasively imaged using optical coherence tomography (OCT) which is used in clinical settings to diagnose and monitor ocular diseases. Here we present largest genome-wide association study PRC morphology date utilising quantitative phenotypes extracted from OCT images within UK Biobank. We discovered 111 loci associated with thickness one or more layers, many had prior associations pathologies, 27 no associations....
Introduction Inherited retinal diseases (IRD) are a leading cause of visual impairment and blindness in the working age population. Mutations over 300 genes have been found to be associated with IRDs identifying affected gene patients by molecular genetic testing is first step towards effective care patient management. However, diagnosis currently slow, expensive not widely accessible. The aim current project address evidence gap IRD an AI algorithm, Eye2Gene, accelerate democratise service....
PurposeTo describe the largest, most phenotypically and genetically diverse cohort of patients with inherited retinal disease (IRD)-related Coats-like vasculopathy (CLV).DesignMulticentre retrospective study.Subjects67 IRD-related CLVMethodsReview clinical notes, ophthalmic imaging, molecular diagnosis from two international centres.Main outcome measuresVisual function, management response to treatment were evaluated correlated.ResultsThe prevalence CLV was 0.5%; 55% had isolated retinitis...
Abstract Purpose To quantify relevant fundus autofluorescence (FAF) image features cross-sectionally and longitudinally in a large cohort of inherited retinal diseases (IRDs) patients. Design Retrospective study imaging data (55-degree blue-FAF on Heidelberg Spectralis) from Participants Patients with clinical molecularly confirmed diagnosis IRD who have undergone FAF 55-degree at Moorfields Eye Hospital (MEH) the Royal Liverpool (RLH) between 2004 2019. Methods Five interest were defined:...
We used a fibre electrode in the lower conjunctival sac of human eye to record ‐wave photopic electroretinogram elicited response dim red flashes, delivered presence rod‐saturating blue background, before and after exposure bright white illumination that bleached significant fraction cone photopigment. Responses were recorded from two normal subjects whose pupils maximally dilated. A range intensities bleaching light used, 500 3000 cd m −2 , exposures made sufficiently long duration achieve...