You searched for "genetic"
Molecular genetics of achromatopsia
1 December 2013
| Nana Theodorou
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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...
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....Effects of market competition on the price of topical eye drops in the US
The authors retrospectively examined the relationship between the number of Federal Drug Administration (FDA)-approved manufacturers and the price change of generic and branded topical eye medications based on the formulations listed in the FDA Orange Book and the National Average...Hereditary profile of retinal detachment
1 August 2016
| Huw Edward Oliphant
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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...
Difference in retinoblastoma phenotypes based on maternal or paternal inheritance
The aim of this study was to explore the difference in presentation of retinoblastoma between paternal and maternal inheritance. A retrospective medical records review methodology was employed. Records of individuals diagnosed with a retinoblastoma with at least one symptomatic family...Selection of visual field test for detection of pituitary disease
This prospective cross-sectional diagnostic accuracy study compared Octopus semi-automated kinetic perimetry (SKP) and Humphrey static automated central perimetry for detection of neurological visual field loss in patients with pituitary disease. Humphrey central 30-2 SITA threshold programme results were compared with...Congenital aniridia with or without retinal detachment
The authors present the clinical and molecular genetic evaluations performed on a large Iranian pedigree with 26 aniridia affected patients in four generations and some with retinal detachment. Members of the family affected with aniridia were invited to participate after...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...
The International AMD Genomics Consortium study: another success in understanding the complex genetics of AMD
1 April 2017
| Valentina Cipriani
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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...
Choroideremia in women
2 June 2025
| Ian Reekie
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EYE - Vitreo-Retinal
The authors report a questionnaire-based study of female carriers of choroideremia, an X-linked inherited chorioretinal dystrophy. As an X-linked condition the full clinical features are predominantly seen in men but a proportion of women suffer some morbidity, likely due to...
Neurofibromatosis type 2 – diagnosis, features and MDT approach
1 December 2021
| Jincy Kurian
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EYE - Orbit, EYE - Vitreo-Retinal, EYE - Cataract, EYE - Refractive, EYE - General
NF2 is a genetic condition caused by mutation in a single gene (NF2 gene) on chromosome 22. The NF2 gene provides instructions to produce a protein called merlin, also known as schwannomin. This protein functions as a tumour suppressor, preventing...