18 results match your criteria: "Moorfields Eye Hospital National Health Service (NHS) Foundation Trust[Affiliation]"

3D printing is becoming increasingly important as time passes, with the latest technologies driving innovation in many fields, including ophthalmology. However, more is needed to know how clinicians can become innovators in their daily practice without needing expert engineering knowledge of the underlying technologies. We aimed to address that shortcoming by developing a pipeline clinicians can use to 3D print.

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Background Von Hippel-Lindau (VHL) disease is an autosomal dominant multisystem disorder caused by germline mutations at chromosome in the VHLtumour suppressor gene. Retinal manifestations include capillary haemangiomas that develop in up to 80% of gene carriers. Lifelong retinal surveillance involves yearly assessment usually by fundoscopy and often as part of a VHL multidisciplinary clinic.

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Choroideremia: molecular mechanisms and therapies.

Trends Mol Med

May 2022

Development, Ageing, and Disease, University College London (UCL) Institute of Ophthalmology, London, EC1V 9EL, UK; Ocular Genomics and Therapeutics Laboratory, The Francis Crick Institute, London, NW1 1AT, UK; Department of Genetics, Moorfields Eye Hospital National Health Service (NHS) Foundation Trust, London, EC1V 2PD, UK; Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK. Electronic address:

Choroideremia (CHM) is a monogenic X-linked chorioretinal dystrophy affecting the photoreceptors, retinal pigment epithelium (RPE), and choroid; it is caused by mutations involving the CHM gene. CHM is characterized by night blindness in early childhood, progressing to peripheral visual field loss and eventually to complete blindness from middle age. CHM encodes the ubiquitously expressed Rab escort protein 1 (REP1), which is responsible for prenylation of Rab proteins and is essential for intracellular trafficking of vesicles.

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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

N Engl J Med

November 2021

From Genomics England (D.S., K.R.S., A.M., E.A.T., E.M.M., A.T., G.C., K.I., L.M., M. Wielscher, A.N., M. Bale, E.B., C.B., H.B., M. Bleda, A. Devereau, D.H., E. Haraldsdottir, Z.H., D.K., C. Patch, D.P., A.M., R. Sultana, M.R., A.L.T.T., C. Tregidgo, C. Turnbull, M. Welland, S. Wood, C.S., E.W., S.L., R.E.F., L.C.D., O.N., I.U.S.L., C.F.W., J.C., R.H.S., T.F., A.R., M.C.), the William Harvey Research Institute, Queen Mary University of London (D.S., K.R.S., V.C., A.T., L.M., M.R.B., D.K., S. Wood, P.C., J.O.J., T.F., M.C.), University College London (UCL) Institute of Ophthalmology (V.C., G.A., M.M., A.T.M., S. Malka, N.P., P.Y.-W.-M., A.R.W.), UCL Genetics Institute (V.C., N.W.W.), GOSgene (H.J.W.), Genetics and Genomic Medicine Programme (L.V., M.R., M.D., L.C., P. Beales, M.B.-G.), National Institute for Health Research (NIHR) Great Ormond Street Hospital Biomedical Research Centre (BRC) (M.R., S. Grunewald, S.C.-L., F.M., C. Pilkington, L.R.W., L.C., P. Beales, M.B.-G.), Infection, Immunity, and Inflammation Research and Teaching Department (P.A., L.R.W.), Stem Cells and Regenerative Medicine (N.T.), and Mitochondrial Research Group (S. Rahman), UCL Great Ormond Street Institute of Child Health, UCL Ear Institute (L.V.), the Department of Renal Medicine (D. Bockenhauer), and Institute of Cardiovascular Science (P.E.), UCL, Moorfields Eye Hospital National Health Service (NHS) Foundation Trust (V.C., G.A., M.M., A.T.M., S. Malka, N.P., A.R.W.), the National Hospital for Neurology and Neurosurgery (J.V., E.O., J.Y., K. Newland, H.R.M., J.P., N.W.W., H.H.), the Metabolic Unit (L.A., S. Grunewald, S. Rahman), London Centre for Paediatric Endocrinology and Diabetes (M.D.), and the Department of Gastroenterology (N.T.), Great Ormond Street Hospital for Children NHS Foundation Trust (L.V., D. Bockenhauer, A. Broomfield, M.A.C., T. Lam, E.F., V.G., S.C.-L., F.M., C. Pilkington, R. Quinlivan, C.W., L.R.W., A. Worth, L.C., P. Beales, M.B.-G., R.H.S.), the Clinical Genetics Department (M.R., T.B., C. Compton, C.D., E. Haque, L.I., D.J., S. Mohammed, L.R., S. Rose, D.R., G.S., A.C.S., F.F., M.I.) and St. John's Institute of Dermatology (H.F., R. Sarkany), Guy's and St. Thomas' NHS Foundation Trust, the Division of Genetics and Epidemiology, Institute of Cancer Research (C. Turnbull), Florence Nightingale Faculty of Nursing, Midwifery, and Palliative Care (T.B.), Division of Genetics and Molecular Medicine (M.A.S.), and Division of Medical and Molecular Genetics (M.I.), King's College London, NIHR BRC at Moorfields Eye Hospital (P.Y.-W.-M.), NHS England and NHS Improvement, Skipton House (V.D., A. Douglas, S. Hill), and Imperial College Healthcare NHS Trust, Hammersmith Hospital (K. Naresh), London, Open Targets and European Molecular Biology Laboratory-European Bioinformatics Institute, Wellcome Genome Campus, Hinxton (E.M.M.), the Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine, and Health, University of Manchester (J.M.E., S.B., J.C.-S., S.D., G.H., H.B.T., R.T.O., G. Black, W.N.), and the Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust (J.M.E., Z.H., S.B., J.C.-S., S.D., G.H., G. Black, W.N.), Manchester, the Department of Genetic and Genomic Medicine, Institute of Medical Genetics, Cardiff University, Cardiff (H.J.W.), the Department of Clinical Neurosciences (T.R., W.W., R.H., P.F.C.), the Medical Research Council (MRC) Mitochondrial Biology Unit (T.R., W.W., P.Y.-W.-M., P.F.C.), the Department of Paediatrics (T.R.), the Department of Haematology (K.S., C. Penkett, S. Gräf, R.M., W.H.O., A.R.), the School of Clinical Medicine (K.R., E.L., R.A.F., K.P., F.L.R.), the Department of Medicine (S. Gräf), and Cambridge Centre for Brain Repair, Department of Clinical Neurosciences (P.Y.-W.-M.), University of Cambridge, NIHR BioResource, Cambridge University Hospitals (K.S., S.A., R.J., C. Penkett, E.D., S. Gräf, R.M., M.K., J.R.B., P.F.C., W.H.O., F.L.R.), and Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust (G.F., P.T., O.S.-B., S. Halsall, K.P., A. Wagner, S.G.M., N.B., M.K.), Cambridge Biomedical Campus, Wellcome-MRC Institute of Metabolic Science and NIHR Cambridge BRC (M.G.), Congenica (A.H., H.S.), Illumina Cambridge (A. Wolejko, B.H., G. Burns, S. Hunter, R.J.G., S.J.H., D. Bentley), NHS Blood and Transplant (W.H.O.), and Wellcome Sanger Institute (W.H.O.), Cambridge, the Health Economics Research Centre (J. Buchanan, S. Wordsworth) and the Wellcome Centre for Human Genetics (C. Camps, J.C.T.), University of Oxford, NIHR Oxford BRC (J. Buchanan, S. Wordsworth, J.D., C. Crichton, J.W., K.W., C. Camps, S.P., N.B.A.R., A.S., J.T., J.C.T.), the Oxford Centre for Genomic Medicine (A. de Burca, A.H.N.), and the Departments of Haematology (N.B.A.R.) and Neurology (A.S.), Oxford University Hospitals NHS Foundation Trust, Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital (C. Campbell, K.G., T. Lester, J.T.), the MRC Weatherall Institute of Molecular Medicine (N.K., N.B.A.R., A.O.M.W.) and the Oxford Epilepsy Research Group (A.S.), Nuffield Department of Clinical Neurosciences (A.H.N.), University of Oxford, and the Department of Clinical Immunology (S.P.), John Radcliffe Hospital, Oxford, Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Foundation Trust (E.B.), and the University of Exeter Medical School (E.B., C.F.W.), Royal Devon and Exeter Hospital (S.E.), Exeter, Newcastle Eye Centre, Royal Victoria Infirmary (A.C.B.), the Institute of Genetic Medicine, Newcastle University, International Centre for Life (V.S., P. Brennan), Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University (G.S.G., R.H., A.M.S., D.M.T., R. Quinton, R.M., R.W.T., J.A.S.), Highly Specialised Mitochondrial Service (G.S.G., A.M.S., D.M.T., R.M., R.W.T.) and Northern Genetics Service (J. Burn), Newcastle upon Tyne Hospitals NHS Foundation Trust (J.A.S.), and NIHR Newcastle BRC (G.S.G., D.M.T., J.A.S.), Newcastle upon Tyne, the Institute of Cancer and Genomic Sciences, Institute of Biomedical Research, University of Birmingham (C. Palles), and Birmingham Women's Hospital (D.M.), Birmingham, the Genomic Informatics Group (E.G.S.), University Hospital Southampton (I.K.T.), and the University of Southampton (I.K.T.), Southampton, Liverpool Women's NHS Foundation Trust, Liverpool (A. Douglas), the School of Cellular and Molecular Medicine, University of Bristol, Bristol (A.D.M.), and Yorkshire and Humber, Sheffield Children's Hospital, Sheffield (G.W.) - all in the United Kingdom; Fabric Genomics, Oakland (M. Babcock, M.G.R.), and the Ophthalmology Department, University of California, San Francisco School of Medicine, San Francisco (A.T.M.) - both in California; the Jackson Laboratory for Genomic Medicine, Farmington, CT (P.N.R.); and the Center for Genome Research and Biocomputing, Environmental and Molecular Toxicology, Oregon State University, Corvallis (M.H.).

Background: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.

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Importance: Uncertainty currently exists about whether the same genetic variants are associated with susceptibility to low myopia (LM) and high myopia (HM) and to myopia and hyperopia. Addressing this question is fundamental to understanding the genetics of refractive error and has clinical relevance for genotype-based prediction of children at risk for HM and for identification of new therapeutic targets.

Objective: To assess whether a common set of genetic variants are associated with susceptibility to HM, LM, and hyperopia.

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Quantification of Key Retinal Features in Early and Late Age-Related Macular Degeneration Using Deep Learning.

Am J Ophthalmol

June 2021

A-eye Research Group, Diagnostic Image Analysis Group, Department of Radiology and Nuclear Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.

Purpose: We sought to develop and validate a deep learning model for segmentation of 13 features associated with neovascular and atrophic age-related macular degeneration (AMD).

Design: Development and validation of a deep-learning model for feature segmentation.

Methods: Data for model development were obtained from 307 optical coherence tomography volumes.

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Importance: Although multiple imputation models for missing data and the use of mixed-effects models generally provide better outcome estimates than using only observed data or last observation carried forward in clinical trials, such approaches usually cannot be applied to visual outcomes from retrospective analyses of clinical practice settings, also called real-world outcomes.

Objective: To explore the potential usefulness of survival analysis techniques for retrospective clinical practice visual outcomes.

Design, Setting, And Participants: This retrospective cohort study covered a 12-year observation period at a tertiary eye center.

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Facedown Positioning Following Surgery for Large Full-Thickness Macular Hole: A Multicenter Randomized Clinical Trial.

JAMA Ophthalmol

July 2020

National Institute of Health Research Biomedical Research Centre (BRC), Moorfields Eye Hospital National Health Service (NHS) Foundation Trust, UCL Institute of Ophthalmology, London, England.

Importance: The value of facedown positioning following surgery for large full-thickness macular holes is unknown.

Objective: To determine whether advice to position facedown postoperatively improves the outcome for large macular holes.

Design, Setting, And Participants: This randomized, parallel group superiority trial with 1:1 randomization stratified by site with 3 months' follow-up was conducted at 9 sites across the United Kingdom and included participants with an idiopathic full-thickness macular hole of at least 400 μm minimum linear diameter and a duration of fewer than 12 months.

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Purpose: We determined whether there is relative sparing of pupil function in glaucoma patients with normal pressures compared to those with high pressures.

Methods: A cross-sectional study was done of 68 patients with primary open angle glaucoma (POAG): 38 had normal IOPs on all-day phasing before treatment (never >21 mm Hg), with confirmed progression of glaucomatous optic neuropathy (NTG) and 30 had glaucomatous optic neuropathy associated with elevated intraocular pressures (>25 mm Hg; HP-POAG). The relative afferent pupillary defect (RAPD) was quantified with the RAPDx device, and mean deviation of visual field loss was obtained from reliable Humphrey visual fields.

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Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses.

Invest Ophthalmol Vis Sci

September 2016

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States.

Purpose: Recent studies indicate that mitochondrial proteins may contribute to the pathogenesis of primary open-angle glaucoma (POAG). In this study, we examined the association between POAG and common variations in gene-encoding mitochondrial proteins.

Methods: We examined genetic data from 3430 POAG cases and 3108 controls derived from the combination of the GLAUGEN and NEIGHBOR studies.

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Determinants of optical coherence tomography-derived minimum neuroretinal rim width in a normal Chinese population.

Invest Ophthalmol Vis Sci

May 2015

Singapore Eye Research Institute and Singapore National Eye Centre, Singapore 7National Institute for Health Research (NIHR) Biomedical Research Centre, Moorfields Eye Hospital National Health Service (NHS) Foundation Trust and University College London (

Purpose: To characterize an optical coherence tomography (OCT)-derived parameter, Bruch's membrane opening-minimum rim width (BMO-MRW), and its association with demographic and clinical parameters in normal Chinese subjects.

Methods: Right eyes of 466 consecutive healthy subjects from a population-based study of Singaporean Chinese underwent Cirrus OCT imaging. The retinal internal limiting membrane (ILM) and BMO were automatically delineated using the built-in Cirrus algorithm.

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Longitudinal study of iris concavity, corneal biomechanics, and correlations to ocular biometry in a cohort of 10- to 12-year-old UK schoolboys: 2-year follow-up data.

Invest Ophthalmol Vis Sci

June 2014

National Institute of Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital National Health Service (NHS) Foundation Trust and University College London (UCL) Institute of Ophthalmology, London, United Kingdom Department of Epidemiology and Genetics, Institute of Ophthalmology, London, United Kingdom.

Purpose: To explore changes in iris curvature over a 2-year period. To investigate associations between iris curvature and ocular biometric parameters. To explore relationships between a number of nonocular measurements and ocular biometric parameters.

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Iris concavity, corneal biomechanics, and their correlations with ocular biometry in a cohort of 10- to 12-year-old UK school boys: baseline data.

Invest Ophthalmol Vis Sci

April 2014

National Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital National Health Service (NHS) Foundation Trust and University College London (UCL) Institute of Ophthalmology, London, United Kingdom Department of Epidemiology and Genetics, Institute of Ophthalmology, London, United Kingdom.

Purpose: Pigment dispersion syndrome is associated with iris concavity. This study investigated the prevalence of iris concavity, defined as a measurement of ≤-0.1 mm, in a cohort of 10- to 12-year-old boys, and explored the relationship between iris curvature and anterior segment biometry.

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The safety and efficacy of noncorticosteroid triple immunosuppressive therapy in the treatment of refractory chronic noninfectious uveitis in childhood.

J Rheumatol

January 2014

From the School of Clinical Sciences, Faculty of Medicine and Dentistry, University of Bristol; Department of Pediatric Rheumatology, Bristol Royal Hospital for Children; Bristol Eye Hospital; Inflammation and Immunotherapy Theme, National Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital National Health Service (NHS) Foundation Trust and University College London (UCL) Institute of Ophthalmology, University Hospitals Bristol NHS Foundation Trust and University of Bristol, Bristol, England.

Article Synopsis
  • This study aimed to evaluate the safety and effectiveness of a noncorticosteroid triple immunosuppressive therapy in children suffering from chronic noninfectious uveitis that did not respond to previous treatments.
  • Researchers analyzed data from patients under 16 who had been on the triple therapy for at least 6 months after other treatments failed, tracking various medical details and outcomes at the 6-month mark.
  • The findings showed only a moderate improvement in inflammation for a small percentage of patients, with a notable number experiencing significant infections, indicating limited benefits from the additional immunosuppressive treatment.
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Purpose: To investigate the relationship between retinal nerve fiber layer (RNFL) thickness and peripheral grating resolution acuity (PGRA) as well as differential light sensitivity (DLS) in healthy subjects and patients with early glaucoma. The agreement between estimates of retinal ganglion cell (GC) density from each functional test is explored.

Methods: PGRA was measured in 24 patients with early glaucoma (mean deviation [MD] > -8 dB) and 26 healthy subjects using achromatic Gabor stimuli in 4 diagonal visual field locations at 10° eccentricity.

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Objective: To combine "extramacular" and "enhanced depth" optical coherence tomographic (OCT) scanning protocols to facilitate enhanced characterization of patients with birdshot chorioretinopathy.

Methods: Spectral-domain OCT images were prospectively collected from 24 eyes of 12 patients with birdshot chorioretinopathy. The images were acquired both from the macula and from 4 peripheral locations: superior and inferior to the temporal vascular arcades, nasal to the optic disc, and temporal to the macula.

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