You searched for "genetics"
Molecular genetics of achromatopsia
1 December 2013
| Nana Theodorou
|
EYE - Vitreo-Retinal
Achromatopsia is a rare autosomal recessive disorder of the cone photoreceptors. Typical characteristics of affected patients include the inability to distinguish colours, impaired visual acuity, photophobia and nystagmus. The condition is said to be more frequent in the Pingelapese population...
Wills Eye Handbook of Ocular Genetics
1 October 2018
| Caroline Bailey
|
EYE - General
Wills Eye Handbook of Ocular Genetics is a concise and comprehensive guide to the diagnosis and management of ophthalmic genetic conditions. Ocular genetics is a rapidly-evolving field and an updated textbook is vital to communicate the recent advances made in...
Breakthroughs in the genetics of angle-closure glaucoma
1 April 2017
| Sancy Low, Paul J Foster (Prof)
|
EYE - Glaucoma
Angle closure glaucoma (ACG) is not widely known to be a familial condition, yet the recent explosion of genetic data and large scale genome wide investigations have confirmed at least 13 genetic loci associated with ACG [1], and provided some...
Genetics counsellors in inherited retinal disease clinics
3 April 2024
| Ian Reekie
|
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...
Retinoblastoma management update (part 1): clinical features, diagnosis and genetics
1 January 2017
| Manoj V Parulekar
|
EYE - Oncology
The first of a two part series, this article will discuss the clinical features, diagnosis and genetic aspects of retinoblastoma. Manoj Parulekar is based at Birmingham Children’s Hospital, one of the two designated national retinoblastoma and paediatric ocular oncology treatment...
The International AMD Genomics Consortium study: another success in understanding the complex genetics of AMD
1 April 2017
| Valentina Cipriani
|
EYE - Vitreo-Retinal
Age-related macular degeneration (AMD) is a neurodegenerative complex disease of the eye and a major cause of blindness and visual impairment among the elderly worldwide. The early stages of the disease are characterised by asymptomatic pigmentary abnormalities and accumulation of...
UK Eye Genetics Group Annual Conference
9 June 2023
by Chloe M. Stanton, UK-EGG Treasurer, MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh Delegates including ophthalmic clinicians, clinical geneticists, genetic counsellors and research scientists travelled to Edinburgh from across the UK and Europe to attend...
UK Eye Genetics Group (UK-EGG) 2024
10 June 2024
by Mohammed Aslam, FY 3 Doctor, Calderdale and Huddersfield NHS Foundation Trust, UK. Founded in 2002, the UK EGG provides a hub to share knowledge on inherited eye disease and train the next generation of clinicians and scientists. This year’s...
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...UK-EGG Seedcorn award call now open
The UK Eye Genetics Group is now accepting applications for a new Seedcorn Award, offering up to £5,000, to support early career researchers in conducting innovative projects focused on the diagnosis, understanding, prevention, management and treatment of genetic eye diseases....
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,...
Hereditary profile of retinal detachment
1 August 2016
| Huw Edward Oliphant
|
EYE - Vitreo-Retinal
This review sought to clarify some of the heritable elements of rhegmatogenous retinal detachment (RRD). The familial element of RRD is well established, with the sibling recurrence risk ratio being 2.1 (Mitry and colleagues), and the parent-offspring recurrence risk ratio...
