You searched for "Gene"
Landmark review of glaucoma treatment and research published by Moorfields-led team
Four world-leading experts, including Hari Jayaram and Gus Gazzard from Moorfields, have combined their knowledge with the findings from over 150 peer-reviewed study publications to produce a landmark paper published in the Lancet.The Worshipful Company of Spectacle Makers awards 2023 Ruskell Medal for research
8 January 2024
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gene therapy, Cristina Martinez-Fernandez de la Camara, awards, competition, research, paper, retinal dystrophy
The Worshipful Company of Spectacle Makers has awarded its prestigious bronze Ruskell Medal for 2023 to Dr Cristina Martinez-Fernandez de la Camara, a senior scientist in the Clinical Ophthalmology Research Group at the Nuffield Department of Clinical Neurosciences at the University of Oxford, for her work on RPGR-associated retinal dystrophy.
A possible biomarker for diabetic retinopathy
1 August 2017
| Graham Wallace
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EYE - Vitreo-Retinal
Diabetic retinopathy (DR) is the most common form of diabetic eye disease, characterised by exudates, microaneurysms and haemorrhage. Early diagnosis is crucial for preventing visual loss. The risk of developing diabetic retinopathy is known to increase with age as well...
ABCA1 mediates lipid efflux in the retina
1 June 2018
| Graham Wallace
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EYE - Vitreo-Retinal
Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly population. There are two forms of AMD, dry and wet, the latter so named because of the presence of choroidal neovascularisation. Both forms lead to retinal pigment...
Nystagmus and associated diagnosis
Patients with nystagmus attending a Low Vision clinic in Sweden were included in this study. Medical records were reviewed to exclude those with general diagnoses that could explain the nystagmus. The remaining group of patients underwent subjective refraction, retinoscopy, ocular...
Polymerase chain reaction evaluation of infectious multifocal serpiginoid choroiditis
1 December 2014
| Nikolaos D Georgakarakos
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EYE - Vitreo-Retinal
This paper presents a retrospective review of infectious agents associated with multifocal serpiginous choroiditis (MSC) based on polymerase chain reaction (PCR) evaluation and specific antimicrobial therapy. The study included 13 patients with MSC who were evaluated with PCR for the...
Ablepharon-macrostomia syndrome
The ablepharon-macrostomia syndrome is a very rare condition caused by a dominant mutation in the TWIST2 gene. Congenital defects include rudimentary eyelids, macrostomia, ambiguous genitalia and campodactyly. Neonates are at risk of severe corneal exposure without intervention. Previous reports have...
Surgical results in spinocerebellar ataxia (SCA)
Patients with SCA frequently develop ocular motility abnormalities including nystagmus, abnormal smooth pursuits, dysmetric saccades, divergence paresis and ophthalmoplegia. Incidence of diplopia is higher in SCA type 3. The purpose of this study was to evaluate surgical responses and outcomes...
Features of branchio-oculo-facial syndrome
Branchio-oculo-facial (BOF) syndrome is an autosomal dominant inherited syndrome that typically presents with branchial cleft sinus defects, ocular anomalies and dysmorphic facial appearance. The authors present a new case alongside the results of a literature review describing the common genetic...
Genetics counsellors in inherited retinal disease clinics
3 April 2024
| Ian Reekie
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EYE - Vitreo-Retinal
This is a questionnaire-based study from the USA of genetics counsellors with a primary role working within ophthalmology services. The purpose was to investigate the roles currently undertaken, to assess workload, and to acquire data on the experience of genetics...
Progression of macular atrophy in Stargardt disease
3 April 2024
| Ian Reekie
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EYE - Vitreo-Retinal
The authors present a study of a cohort of patients with genetically proven ABCA4 gene mutation related Stargardt disease. They aimed to quantify the effect of lesion location and topography on disease progression using fundus autofluorescence imaging. One hundred and...
Updated staging of LCHADD retinopathy
2 August 2024
| Ian Reekie
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EYE - Vitreo-Retinal
The authors present their proposal for an updated staging system for Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) deficiency retinopathy. This is a rare mitochondrial disease due to deficiency of the long chain fatty acid oxidation pathway. Forty patients who were part of...
