Martin McKibbin
A5023564113- Retinal Diseases and Treatments
- Retinal Imaging and Analysis
- Retinal Development and Disorders
- Glaucoma and retinal disorders
- Retinal and Optic Conditions
- Intraocular Surgery and Lenses
- RNA regulation and disease
- Ocular Disorders and Treatments
- Ophthalmology and Visual Impairment Studies
- Connexins and lens biology
- Ocular Diseases and Behçet’s Syndrome
- Advanced biosensing and bioanalysis techniques
- Cellular transport and secretion
- Retinoids in leukemia and cellular processes
- Genomics and Rare Diseases
- CRISPR and Genetic Engineering
- Retinal and Macular Surgery
- Corneal surgery and disorders
- Retinopathy of Prematurity Studies
- Prenatal Screening and Diagnostics
- Photoreceptor and optogenetics research
- Cerebral Venous Sinus Thrombosis
- Vasculitis and related conditions
- Genomic variations and chromosomal abnormalities
- Systemic Lupus Erythematosus Research
St James's University Hospital
2016-2025
Leeds Teaching Hospitals NHS Trust
2016-2025
University of Leeds
2016-2025
UK Biobank
2021-2023
Wellcome Trust
2023
Aintree University Hospitals NHS Foundation Trust
2023
University of Liverpool
2023
Osaka University
2022
Genomics England
2022
National Health Service
2019-2020
Abstract Medical artificial intelligence (AI) offers great potential for recognizing signs of health conditions in retinal images and expediting the diagnosis eye diseases systemic disorders 1 . However, development AI models requires substantial annotation are usually task-specific with limited generalizability to different clinical applications 2 Here, we present RETFound, a foundation model that learns generalizable representations from unlabelled provides basis label-efficient adaptation...
Abstract Mutations in pre-mRNA processing factors (PRPFs) cause autosomal-dominant retinitis pigmentosa (RP), but it is unclear why mutations ubiquitously expressed genes non-syndromic retinal disease. Here, we generate transcriptome profiles from RP11 ( PRPF31 -mutated) patient-derived organoids and pigment epithelium (RPE), as well Prpf31 +/− mouse tissues, which revealed that disrupted alternative splicing occurred for specific programmes. Mis-splicing of encoding proteins was limited to...
In chronic central serous chorioretinopathy (CSCR), fluid accumulates in the subretinal space. CSCR is a common visually disabling condition that develops individuals up to 60 years of age, and there no definitive treatment. Previous research suggests mineralocorticoid receptor antagonist, eplerenone, effective for treating CSCR; however, this drug not licensed treatment patients with CSCR. We aimed evaluate whether eplerenone was superior placebo terms improving visual acuity CSCR.This...
<h3>Aims:</h3> To study the incidence, systemic associations, presenting features and natural history of Purtscher’s retinopathy in UK Ireland. <h3>Methods:</h3> Cases were collected prospectively by active surveillance through British Ophthalmological Surveillance Unit. Clinical details obtained using an incident questionnaire, with follow-up at 1 6 months. <h3>Results:</h3> for 15 cases over 12 These associated road traffic accidents cases, chest compression acute pancreatitis 3 cases. All...
Retinitis pigmentosa (RP) is the most frequent form of inherited retinal dystrophy. RP genetically heterogeneous and genes identified to date encode proteins involved in a wide range functional pathways, including photoreceptor development, phototransduction, retinoid cycle, cilia, outer segment development. Here we report identification biallelic mutations Receptor Expression Enhancer Protein 6 (REEP6) seven individuals with autosomal-recessive from five unrelated families. REEP6 member...
To define a minimum set of outcome measures for tracking, comparing, and improving macular degeneration care.Recommendations from working group international experts in outcomes registry development patient advocates, facilitated by the International Consortium Health Outcomes Measurement (ICHOM).Modified Delphi technique, supported structured teleconferences, followed online surveys to drive consensus decisions. Potential were identified through literature review collected existing...
<h3>Purpose</h3> To understand levels of disease burden and progression in a real-world setting among patients from the United Kingdom with bilateral geographic atrophy (GA) secondary to age-related macular degeneration (AMD). <h3>Design</h3> Retrospective cohort analysis multicenter electronic medical record (EMR) database. <h3>Participants</h3> Patients who were aged ≥50 years GA no history choroidal neovascularization (CNV) attended 1 10 clinical sites using EMR. <h3>Methods</h3> A...
To investigate an association between genotype for three single nucleotide polymorphisms strongly associated with the development of age-related macular degeneration (AMD) and early response to treatment intravitreal ranibizumab neovascular AMD.Best corrected visual acuity letter score was recorded at baseline each subsequent visit. Age, sex, smoking history, lesion type number injections were also recorded. Genotypes obtained rs11200638 in HTRA1, rs1061170 CFH rs1413711 VEGF. Data analysed...
The atonal homolog 7 (ATOH7) gene encodes a transcription factor involved in determining the fate of retinal progenitor cells and is particularly required for optic nerve ganglion cell development. Using combination autozygosity mapping next generation sequencing, we have identified homozygous mutations this gene, p.E49V p.P18RfsX69, two consanguineous families diagnosed with multiple ocular developmental defects, including severe vitreoretinal dysplasia, hypoplasia, persistent fetal...
<h3>Aim</h3> To assess the rate of 'treatment-requiring diabetic macular oedema (DMO)' in eyes for two years before and after cataract surgery. <h3>Methods</h3> Multicentre national retinopathy (DR) database study with anonymised data extraction across 19 centres from an electronic medical record system. Inclusion criteria: undergoing surgery patients diabetes no history DMO prior to start. The minimum dataset included: age, visual acuity (all time-points), injection episodes, timing ETDRS...