You searched for "Gene"
Changes in the prevalence of myopia in middle-aged caucasian Australians compared to UK biobank
5 August 2022
| Ivan Yip
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EYE - Vitreo-Retinal
This article compares rates of myopia and high myopia in large cohorts of caucasian Australians from the Busselton Healthy Ageing Study, the urban Gen1 of the Raine Study, the Blue Mountains Eye study and Melbourne Visual Impairment Project. The former...
Genetic therapy gives infants life-changing improvements in sight
24 February 2025
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genetics, gene therapy, Moorfields, paediatrics, research, new, AIPL1, Leber Congenital Amaurosis
Four young children have gained life-changing improvements in sight following treatment with a pioneering new genetic medicine through Moorfields Eye Hospital and UCL Institute of Ophthalmology, with the support of MeiraGTx. The children were born with a severe impairment to...
An update on inherited retinal disorders (part 2): Approaches to therapy for IRDs
1 December 2016
| Stacey Strong, Michel Michaelides (Prof)
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EYE - Vitreo-Retinal
Part 1 of this topic can be found here There are currently no proven cures for inherited retinal disease (IRD). However, multiple avenues of research are being investigated to better understand disease mechanisms and trial potential therapies that may slow...
Transfected RPE cells inhibit AMD in rats
1 August 2015
| Graham Wallace
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EYE - Vitreo-Retinal
Age-related macular degeneration (AMD) is a leading cause of blindness in the elderly. Wet AMD is characterised by choroidal neovascularisation, new vessels into the retina, leading to leakage and tissue damage. Many proangiogenic factors particularly vascular endothelial growth factor (VEGF)...
Germline testing for uveal melanoma
4 December 2023
| Ian Reekie
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EYE - Pathology, EYE - Oncology
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BAP1, Uveal melanoma, genetic counselling, hereditary cancer, mainstreaming, service delivery
The authors present a study of 114 consecutive patients presenting with uveal melanoma. Between 1 December 2019 and 1 November 2021 all patients over 18-years-old presenting to their centre with uveal melanoma were offered germline testing for variants in BAP1,...
Familial Mediterranean Fever and keratoconus
This retrospective case control study was conducted in the Genetic Diagnostic Centre in Turkey. It examined the prevalence of keratoconus in two groups; patients with Familial Mediterranean Fever (FMF) and age matched controls free of FMF, who were tested for...Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide
1 October 2014
| Huw Edward Oliphant
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EYE - Vitreo-Retinal
X-linked retinoschisis (XLRS) is an early onset hereditary retinal dystrophy. It is caused by mutations of the RS1 gene. Common manifestations of XLRS are schitic lesions at the macula, as well as infero-temporal schisis. Carbonic anhydrase inhibitors have previously been...
HtrA1 enhances cell senescence
1 December 2013
| Graham Wallace
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EYE - Vitreo-Retinal
A genetic basis for age-related macular degeneration (AMD) has been greatly advanced in recent years. The role of identified pathways such as complement factor H in AMD has been widely investigated. However, the effect of other gene variants identified by...
Stargardt disease in a Turkish cohort
2 August 2024
| Ian Reekie
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EYE - Vitreo-Retinal
The authors present a study of 27 Turkish patients who were seen in a single centre over a five-year period. All patients had macular optical coherence tomography (OCT), colour fundus photography and 30-2 Humphery visual fields performed, along with clinical...
PAX6 methylation and myopia
2 December 2024
| Ian Reekie
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EYE - Vitreo-Retinal
The authors present a case control study of 41 adolescents (age 12–14) with myopia and 39 age- and sex-matched non-myopic controls. The myopic patients were sub-divided into mild, moderate and severe myopia subgroups. DNA was extracted from peripheral blood samples...
Embryology in clinical practice
1 February 2016
| Naser Ali
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EYE - Cataract, EYE - Cornea, EYE - General, EYE - Glaucoma, EYE - Imaging, EYE - Neuro-ophthalmology, EYE - Oculoplastic, EYE - Oncology, EYE - Orbit, EYE - Paediatrics, EYE - Pathology, EYE - Refractive, EYE - Strabismus, EYE - Vitreo-Retinal
The fascinating world of embryology is both beautiful and practical. It is a home video of our evolutionary history through the ages from the single cell through to the life aquatic, the development of gut, limbs and brain, and most...
Transcriptomic analysis of ocular tissues
1 August 2018
| Graham Wallace
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EYE - Glaucoma
Transcriptomics is defined as the analysis of the complete set of RNA transcripts present in a cell under different circumstances, quiescent versus challenge, by microarray analysis. Comparison of transcriptomes identifies genes that are differentially expressed in different cell populations under...