You searched for "Gene"
Genetic analysis of choroideremia families
Choroideremia (CHM) is a rare X linked recessive chorioretinal dystrophy. Symptoms include nyctalopia and progressive peripheral field loss. Female carriers may have mild symptoms. Choroideremia is known to be caused by a mutation in the CHM gene. A multicentre human...
Myopia in Han Chinese
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...An update on inherited retinal disorders (part 1) – overview and assessment of inherited retinal disease
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]....Seeing with fresh eyes: Snails as a system for studying sight restoration
Stowers scientists have established the apple snail as a new research organism for investigating eye regeneration, which may hold the key for restoring vision due to damage and disease. Snails are slimy, simple creatures yet one species, the apple snail,...Researchers identify a novel genetic cause of Fuchs endothelial corneal dystrophy
Researchers identify a novel genetic cause of Fuchs endothelial corneal dystrophy, offering new ways for future therapies to target this common, age-related cause of visual loss. In a landmark study, researchers supported by NIHR Moorfields Biomedical Research Centre, have identified...Neurofibromatosis type 2 – diagnosis, features and MDT approach
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...OOC (Oxford Ophthalmological Congress) 2024
by Samuel Verdin, Editorial Coordinator, Eye News. We were recently ‘daan saaf’ in England for the wonderfully scientific and long-standing Oxford Ophthalmological Congress for their 107th year! Founding in 1909 by Robert W Doyne, the congress is guided by the...Breakthroughs in the genetics of angle-closure 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...The International AMD Genomics Consortium study: another success in understanding the complex genetics of AMD
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...
