856 results match your criteria: "Oxford Eye Hospital.[Affiliation]"

Uveitis is characterised by breakdown of the blood-retinal barrier (BRB), allowing infiltration of immune cells that mediate intraocular inflammation, which can lead to irreversible damage of the neuroretina and the loss of sight. Treatment of uveitis relies heavily on corticosteroids and systemic immunosuppression due to limited understanding of disease pathogenesis. We performed single-cell RNA-sequencing of retinas, as well as bulk RNA-sequencing of retinal pigment epithelial (RPE) cells from mice with experimental autoimmune uveitis (EAU) versus healthy control.

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Introduction: Retinal focal nodular gliosis (FNG), also known as vasoproliferative tumors (VPTs), are rare, benign vascular tumors associated with exudation with no current consensus on management. Herein, we describe the varied clinical course and management of 3 patients with retinal FNG, one of whom is associated with retinitis pigmentosa.

Case Presentations: Case 1 is a 76-year-old female who presented with reduced vision and distortion secondary to a vitreous hemorrhage and epiretinal membrane (ERM) as complications of a known small peripheral retinal FNG.

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Genetic therapies and potential therapeutic applications of CRISPR activators in the eye.

Prog Retin Eye Res

September 2024

Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK; NIHR Oxford Biomedical Research Centre, Oxford, UK. Electronic address:

Article Synopsis
  • Conventional gene therapy has limitations like only treating loss-of-function diseases and being restricted by viral packaging sizes, which prevents addressing larger genes.
  • The advent of CRISPR/Cas technology marks a significant shift in genetic therapy, allowing for precise gene editing and a broader range of treatable diseases, including advancements like base and prime editing.
  • The review covers the mechanisms of CRISPR-activators (CRISPRa), their current applications in vivo, and explores challenges in translating this technology, particularly in the context of eye diseases.
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Background/aims: Female choroideremia carriers present with a spectrum of disease severity. Unlike in men, the rate of disease progression has not been well characterised in carriers. This longitudinal study aimed to determine the rate of retinal degeneration in choroideremia carriers, using multimodal imaging and microperimetry.

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Dacryoadenitis in the setting of linear scleroderma (LScs) is an association that has not previously been described in the scientific literature. The purpose of this case report is to describe the co-existence of LScs and chronic dacryoadenitis and how it was managed. We report the case of a 42-year-old woman who presented with a 4-month history of left upper eyelid swelling with radiological enlargement of the left lacrimal gland on orbital CT and MRI imaging.

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Background: Retinal monitoring is recommended for hydroxychloroquine users to detect pre-symptomatic retinopathy and preserve visual function. However, the incidence of hydroxychloroquine retinopathy and monitoring coverage in the U.K.

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Article Synopsis
  • This project aimed to investigate the standards of genetic testing and counseling for patients with inherited retinal diseases (IRDs) in select European countries, focusing on expert opinions about current challenges and potential improvements in patient care.
  • A survey was distributed to professionals across ten European nations, gathering data on the prevalence of genetic testing and counseling practices.
  • Results showed that while genetic tests are common and largely funded by public health services, many IRD patients still lack adequate testing and counseling, highlighting the need for better education for healthcare providers, improved access to advanced testing, and more genetic counselors.
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Article Synopsis
  • A 4-year-old boy was diagnosed with Joubert syndrome type 6, showing unusual eye features like right microphthalmia and left eye nystagmus.
  • The diagnosis was confirmed through whole exome sequencing, which identified a specific genetic variant causing the condition.
  • This case highlights rare ocular symptoms associated with Joubert syndrome, enhancing understanding of its complex effects on vision and the nervous system.*
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Age-related macular degeneration: suitability of optogenetic therapy for geographic atrophy.

Front Neurosci

July 2024

Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.

Article Synopsis
  • Age-related macular degeneration (AMD) is a major cause of blindness in people over 55 years old, affecting the retina and leading to central vision loss, with geographic atrophy (GA) being the most challenging subtype to treat.
  • Recent advancements in treatment include new drugs like pegcetacoplan and avacincaptad pegol, which slow GA progression but cannot reverse vision loss.
  • Optogenetics is being explored as a potential therapy by making surviving retinal cells sensitive to light, allowing for the possibility of transmitting visual information even after vision loss has occurred.
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Introduction: Degeneration in choroideremia, unlike typical centripetal photoreceptor degenerations, is centred temporal to the fovea. Once the fovea is affected, the nasal visual field (temporal retina) is relatively spared, and the preferred retinal locus shifts temporally. Therefore, when reading left to right, only the right eye reads into a scotoma.

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Choroideremia, an incurable, progressive retinal degeneration primarily affecting young men, leads to sight loss. GEMINI was a multicenter, open-label, prospective, two-period, interventional Phase II study assessing the safety of bilateral sequential administration of timrepigene emparvovec, a gene therapy, in adult males with genetically confirmed choroideremia (NCT03507686, ClinicalTrials.gov).

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The use of robotic surgery in ophthalmology has been shown to offer many potential advantages to current surgical techniques. Vitreoretinal surgery requires complex manoeuvres and high precision, and this is an area that exceeds manual human dexterity in certain surgical situations. With the advent of advanced therapeutics such as subretinal gene therapy, precise delivery and minimising trauma is imperative to optimize outcomes.

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Gene Therapies in Clinical Development to Treat Retinal Disorders.

Mol Diagn Ther

September 2024

Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Wellington Square, Oxford, OX1 2JD, UK.

Article Synopsis
  • * Though some therapies have had successful outcomes, others have failed to meet key goals, leading to learnings that will improve future clinical trial designs.
  • * Ongoing research and trials aim to refine these treatments, which could dramatically change how retinal disorders are managed, potentially restoring vision and enhancing quality of life for many patients.
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Retinal Characteristics of Female Choroideremia Carriers: Multimodal Imaging, Microperimetry, and Genetics.

Ophthalmol Retina

December 2024

Department of Optometry and Vision Sciences, University of Melbourne, Melbourne, Victoria, Australia; Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, VIC, Australia; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, VIC, Australia. Electronic address:

Purpose: To describe visual function and retinal features of female carriers of choroideremia (CHM), using multimodal imaging and microperimetry.

Design: Cross-sectional cohort study.

Participants And Controls: Choroideremia carriers seen in Australia (Melbourne or Perth) or the United Kingdom (Oxford or Cambridge) between 2012 and 2023.

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Purpose: Surgical innovation in ophthalmology is impeded by the physiological limits of human motion, and robotic assistance may facilitate an expansion of the surgical repertoire. We conducted a systematic review to identify ophthalmic procedures in which robotic systems have been trialled, evaluate their performance, and explore future directions for research and development of robotic techniques.

Methods: The Cochrane Library, Embase, MEDLINE, Scopus, and Web of Science were searched.

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Healthcare services are significant contributors to climate change. Ophthalmology, by virtue of the volume of appointments and procedures it generates, is thought to play a major role in this regard. Intravitreal injections (IVI) are a commonly performed ophthalmological procedure to treat patients with conditions such as macular neovascularisation secondary to neovascular age-related macular disease or myopia, diabetic macular oedema, and retinal vein occlusions.

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Objective: Progressive retinal atrophy has been described after subretinal gene therapy utilizing the adeno-associated virus (AAV) vector platform. To elucidate whether this atrophy is a consequence of inherent properties of AAV, or if it is related to the surgical trauma of subretinal delivery, we analyzed data from an Investigational New Drug-enabling study for PDE6A gene therapy in nonhuman primates.

Design: Animal study (nonhuman primates), retrospective data analysis.

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Objectives: To validate and update the 2013 James Lind Alliance (JLA) Sight Loss and Vision Priority Setting Partnership (PSP)'s research priorities for Ophthalmology, as part of the UK Clinical Eye Research Strategy.

Methods: Twelve ophthalmology research themes were identified from the JLA report. They were allocated to five Clinical Study Groups of diverse stakeholders who reviewed the top 10 research priorities for each theme.

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Pathogenic variants in the gene lead to severe, childhood-onset retinal degeneration leading to blindness in early adulthood. There are no approved therapies, and traditional adeno-associated viral vector-based gene therapy approaches are challenged by the existence of multiple CRB1 isoforms. Here, we describe three variants, including a novel, previously unreported variant that led to retinal degeneration.

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Retinal Pigment Epithelial Adenoma: Initial Treatment Outcomes following Episcleral Brachytherapy.

Ocul Oncol Pathol

April 2024

Department of Ophthalmology, Cairo University Ocular Oncology Service, Kasr Al-Ainy School of Medicine, Cairo University, Cairo, Egypt.

Introduction: We aim to explore the safety and efficacy of episcleral brachytherapy as a primary management option for eyes with retinal pigment epithelial (RPE) adenoma.

Methods: Retrospective chart review of the demographic, clinical, ancillary, and postoperative outcome data of patients with RPE adenoma in 2 tertiary referral centers. Tumor regression, final visual acuity, and complications were assessed.

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Corneal guttata is a non-inflammatory progressive decline of endothelial cell density (ECD) which represents an early clinical feature of Fuch's dystrophy. In patients with corneal guttata, the relative risk for corneal transplantation after phacoemulsification has been found to be 68.2 times higher than in those without it.

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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.

Brain

June 2024

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Article Synopsis
  • * A systematic review identified 36 new pathogenic and 10 likely pathogenic variants through measuring esterase activity, creating a reliable method for classifying variants related to PNPLA6.
  • * The study revealed a significant link between NTE activity levels and the presence of specific symptoms like retinopathy and endocrinopathy, supporting the idea that PNPLA6 disorders are a spectrum of related phenotypes based on NTE genotype and activity, setting the stage for future therapies.
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