You searched for "genetic"
7th European Aniridia Conference
31 May 2024
-2 June 2024
The European Aniridia Conference is a biannual conference that brings together researchers, practitioners and diagnosis carriers to share the latest scientific know-how, experiences and ideas about the rare genetic condition aniridia and aniridia-related diseases.
Online retinoblastoma surveillance tool
7 December 2020
| Annes Ahmeidat
|
EYE - Pathology, EYE - Oncology
|
Familial relationship, Genetics, Retinoblastoma, Surveillance
Given the vision and life-threatening course of retinoblastoma (RB), it has become a significant heritable childhood cancer to screen for. To recommend surveillance, risk must be estimated and genetic testing plays a vital role. However, genetic tests vary based on...
Reliability of kinetic perimetry in children and young adults
1 December 2014
| Claire Howard
|
EYE - Neuro-ophthalmology
This study reports on normative visual field area, feasibility and repeatability of testing for a large sample size of healthy children and young adults, using Octopus semi-automated kinetic perimetry. Sample included 221 healthy volunteers aged 5-22 years. The study was...
Germline mutation risk in solitary unilateral retinoblastoma
This study aimed to determine the true risk for germline mutation in a child presenting with solitary unilateral RB and whether this risk differs by age at presentation. This was a retrospective review of 482 cases from 1972-2020. Age groups...
Germline testing for uveal melanoma
4 December 2023
| Ian Reekie
|
EYE - Pathology, EYE - Oncology
|
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,...
Register: UK Eye Genetics Group (UK-EGG) Annual Conference 2025
Save the Date – Register NOW – Call for Abstracts... This year, the meeting will be chaired by Professor Susan Downes and by Miss Samantha De Silva and hosted at St Anne’s College, in Oxford! The day will include thought...Gene therapy for inherited retinal disease: the Manchester Ocular Gene Therapy Group MDT service
4 August 2021
| Jane Ashworth, Tsveta Ivanova, Susmito Biswas, Assad Jalil, Georgina Hall, Rebecca Redmond, Graeme CM Black (Prof), William Newman, Neil Parry, Jane CB Gray, Charlotte Skitterall
|
EYE - Paediatrics, EYE - Vitreo-Retinal, EYE - General
The authors describe the process set up in Manchester for the optimum delivery and assessment of a new gene therapy treatment for patients with RPE65 IRD. Inherited retinal dystrophies (IRDs) are the second commonest cause of severe visual impairment in...
Complement factor B polymorphism and the phenotype of early age-related macular degeneration
1 August 2014
| Huw Edward Oliphant
|
EYE - Vitreo-Retinal
The relationship between complement factor H (CFH) and age-related macular degeneration (AMD) is very well known, but other genetic polymorphisms relating to AMD are more poorly understood. This study was designed to investigate the relationship between complement factor B (CFB)...
Myopia in Han Chinese
2 February 2024
| Ian Reekie
|
EYE - Cataract, EYE - Refractive
|
Han Chinese, Myopia-associated genes, High myopia, retinal nervous system, single nucleotide polymorphisms
The authors present a case-control study of 361 patients with high myopia (mean spherical equivalent of -6.0DS or lower, and axial length greater than or equal to 26mm) and 749 healthy controls (mean spherical equivalent -1.0 to +1.0DS). They tested...
Updated staging of LCHADD retinopathy
2 August 2024
| Ian Reekie
|
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...
An update on inherited retinal disorders (part 1) – overview and assessment of inherited retinal disease
1 October 2016
| Michel Michaelides (Prof)
|
EYE - Vitreo-Retinal
Part 2 of this topic can be found here Inherited Retinal Disease (IRD) is the leading cause of blindness certification in the working age population (age 16-64 years) in England and Wales and the second most common in childhood [1]....
Exploiting nature’s randomised trials of eye disease
1 December 2022
| Skanda Rajasundaram, Dalia Abdulhussein, Christopher Bentley (Prof), Shafi Balal, Minak Bhalla
|
EYE - Glaucoma, EYE - Vitreo-Retinal, EYE - Orbit
Confounding and reverse causation in observational ophthalmic epidemiology Traditional observational studies are inherently limited in establishing a causal effect of an exposure on an outcome of interest. One fundamental limitation is confounding, whereby causation is incorrectly attributed to a third...
