A5101469581- Retinal Diseases and Treatments
- Retinal Imaging and Analysis
- Retinal and Optic Conditions
- Retinal Development and Disorders
- Glaucoma and retinal disorders
- Connexins and lens biology
- Intraocular Surgery and Lenses
- Corneal surgery and disorders
- Ocular Diseases and Behçet’s Syndrome
- Electrochemical Analysis and Applications
- Neonatal Respiratory Health Research
- Genomics and Rare Diseases
- Retinal and Macular Surgery
- Ophthalmology and Visual Impairment Studies
- Antioxidant Activity and Oxidative Stress
- Complement system in diseases
- Retinoids in leukemia and cellular processes
- Renal and Vascular Pathologies
- Corneal Surgery and Treatments
- Renal Diseases and Glomerulopathies
- Catalysis and Oxidation Reactions
- Advanced Glycation End Products research
- Cerebral Venous Sinus Thrombosis
- Neurological Disease Mechanisms and Treatments
- Angiogenesis and VEGF in Cancer
Belfast Health and Social Care Trust
2014-2025
Queen's University Belfast
2013-2024
Royal Victoria Hospital
1994-2024
Birmingham and Midland Eye Centre
2024
Bristol Eye Hospital
2024
University of Southampton
2024
University Teaching Hospital
2024
Royal Berkshire NHS Foundation Trust
2024
Royal Berkshire Hospital
2024
University of Ulster
2008-2023
Age-related macular degeneration (AMD) is the most frequent cause of irreversible blindness in elderly developed countries. Our previous studies implicated activation complement formation drusen, hallmark lesion AMD. Here, we show that factor H (HF1), major inhibitor alternative pathway, accumulates within drusen and synthesized by retinal pigmented epithelium. Because linkage analyses identified chromosome 1q25-32, which harbors gene ( HF1 / CFH ), as an AMD susceptibility locus, analyzed...
<b>Introduction:</b> Membranoproliferative glomerulonephritis type II or dense deposit disease (MPGN II/DDD) causes chronic renal dysfunction that progresses to end stage in about half of patients within 10 years diagnosis. Deficiency and mutations the complement factor H (<i>CFH</i>) gene are associated with development MPGN II/DDD, suggesting dysregulation alternative pathway cascade is important pathophysiology. <b>Subjects:</b> Patients II/DDD were studied determine whether specific...
To assess the significance of glycation, nonenzymatic browning, and oxidation lens crystallins in cataract formation elderly diabetic patients, we measured three distinct products reactions cataractous from 29 patients (mean +/- SD age 72.8 8.8 yr) 24 nondiabetic (age 73.5 8.3 yr). Compounds included 1) fructoselysine (FL), first stable product glycation; 2) pentosidine, a fluorescent, carbohydrate-derived protein cross-link between lysine arginine residues formed during browning; 3) N...
Age-related macular degeneration (AMD) is the most common cause of incurable visual impairment in high-income countries. Previous studies report inconsistent associations between AMD and apolipoprotein E (APOE), a lipid transport protein involved low-density cholesterol modulation. Potential interaction APOE sex, smoking status has been reported. We present pooled analysis (n = 21,160) demonstrating late APOε4 (odds ratio [OR] 0.72 per haplotype; confidence interval [CI]: 0.65-0.74; P...
Abstract Introduction Cerebral small‐vessel disease has been implicated in the development of Alzheimer's (AD). The retinal microvasculature enables noninvasive visualization and evaluation systemic microcirculation. We evaluated microvascular parameters a case‐control study AD patients cognitively normal controls. Methods Retinal images were computationally analyzed quantitative (caliber, fractal dimension, tortuosity, bifurcation) measured. Regression models used to compute odds ratios...
The aim of this study was to investigate the plasma levels complement C3a, C4a, and C5a in different types neovascular age-related macular degeneration (nAMD) whether were related patients' responsiveness anti-VEGF therapy.Ninety-six nAMD patients (including 61 with choroidal neovascularisation (CNV), 17 retinal angiomatous proliferation (RAP), 14 polypoidal vasculopathy (PCV) 4 unclassified patients) 43 controls recruited case-control study. Subretinal fibrosis observed 45 absent 51...
Background Age-related macular degeneration (AMD) is the major cause of blindness in elderly. Those with neovascular end-stage disease have irreversible loss central vision. AMD a complex disorder which genetic and environmental factors play role. Polymorphisms complement factor H (CFH) gene, LOC387715, HTRA1 promoter are strongly associated AMD. Smoking also contributes to etiology. We aimed provide model risk based on these factors. Methods Findings genotyped polymorphisms CFH...
Purpose: To determine the incidence of blindness secondary to idiopathic intracranial hypertension (IIH) in United Kingdom. Methods: New cases occurring IIH were identified prospectively through British Ophthalmological Surveillance Unit (BOSU) from October 2005 November 2006. Only and those meeting World Health Organisation`s definition included. Cases that already blind or had been registered before study period excluded. Results: There 24 new registerable reported during 12 month period....
Vitamin D has been shown to have anti-angiogenic properties and play a protective role in several types of cancer, including breast, prostate cutaneous melanoma. Similarly, vitamin levels be for risk number conditions, cardiovascular disease chronic kidney disease, as well numerous autoimmune disorders such multiple sclerosis, inflammatory bowel diseases type 1 diabetes mellitus. A study performed by Parekh et al. was the first suggest age-related macular degeneration (AMD) showed...
Oxidative stress has been implicated in the pathogenesis of Alzheimer's disease (AD). We investigated associations between serum levels lipophilic antioxidants and AD.Serum concentrations retinol, two forms vitamin E (α- γ-tocopherol) six carotenoids were quantified by high-performance liquid chromatography from patients with AD (n = 251) cognitively intact controls 308) assessed regression analyses.Serum α-tocopherol all significantly lower compared (P < .001). In contrast, γ-tocopherol was...
Infiltrating immune cells including monocytes/macrophages have been implicated in the pathogenesis of neovascular age-related macular degeneration (nAMD). The aim this study was to investigate cytokine and chemokine expression secretion profile peripheral blood mononuclear (PBMCs) from nAMD patients relationship between cytokine/chemokine clinical phenotype nAMD, fibrosis, atrophy or responsiveness anti-VEGF therapy. One hundred sixty-one 43 controls were enrolled study. divided into...
Abstract Genome-wide association studies (GWAS) for late stage age-related macular degeneration (AMD) have identified 52 independent genetic variants with genome-wide significance at 34 genomic loci. Typically, such an approach rarely results in the identification of functional implicating a defined gene disease process. We now performed transcriptome-wide study (TWAS) allowing prediction effects AMD-associated on expression. The TWAS was based genotypes 16,144 late-stage AMD cases and...
purpose. Keratoconus and cataract are common causes of visual morbidity. Both conditions show genetic predisposition. The purpose this study was to map the disease locus in a large three-generation family affected by combined early-onset autosomal dominant anterior polar clinically severe keratoconus. Uniquely, both disorders were present fully penetrant those affected. methods. Thirty members examined on two occasions, at an interval 5 years, establish their phenotypes determine progression...
<b>Background:</b> Usher syndrome, a combination of retinitis pigmentosa (RP) and sensorineural hearing loss with or without vestibular dysfunction, displays high degree clinical genetic heterogeneity. Three subtypes can be distinguished, based on the age onset severity impairment, presence absence abnormalities. Thus far, eight genes have been implicated in together comprising 347 protein-coding exons. <b>Methods:</b> To improve DNA diagnostics for patients we developed genotyping...
purpose. Pigmented paravenous chorioretinal atrophy (PPCRA) is an unusual retinal degeneration characterized by accumulation of pigmentation along veins. The purpose this study was to describe the phenotype a family with PPCRA, determine mode inheritance, and identify causal mutation. methods. Ophthalmic examination performed on seven members serially detailed in proband over 3-year period. Blood samples were collected DNA extracted. All 12 coding exons 5′ promoter region crumbs homologue 1...