You searched for "Gene"
Myopia in Han Chinese
2 February 2024
| Ian Reekie
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EYE - Cataract, EYE - Refractive
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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...
An update on inherited retinal disorders (part 1) – overview and assessment of inherited retinal disease
1 October 2016
| Michel Michaelides (Prof)
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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]....
OOC (Oxford Ophthalmological Congress) 2024
1 July 2024
-3 July 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...
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...
Breakthroughs in the genetics of angle-closure glaucoma
1 April 2017
| Sancy Low, Paul J Foster (Prof)
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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...
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...
Association of pendular waveform and retinal disorders
4 August 2021
| Fiona Rowe (Prof)
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EYE - Paediatrics, EYE - Strabismus
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Nystagmus, nystagmus waveform, retina disorders
The authors aimed to evaluate the relationship between retinal disorders and pendular low amplitude high frequency components (PLAHF) waveform by collecting nystagmus eye movement recordings, electroretinography (ERG) and gene tests. Retinal disorders were diagnosed by clinical phenotype and genotype characteristics....
Assessing and treating achromatopsia
This literature review considers clinical characteristics (pendular nystagmus, poor visual acuity, lack of colour vision and marked photophobia), genetics (autosomal recessive disease, with CNGA3, CNGB3, GNAT2, PDE6C, PDE6H and ATF6 gene mutations), diagnostic options (OCT and fundus auto fluorescence), and...A revolution in modern genetic testing for the clinical management of ocular disease
1 August 2016
| Jane Ashworth, Chris Lloyd (Prof), Graeme Black
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EYE - Cataract, EYE - Pathology, EYE - Vitreo-Retinal
Recent years have seen a huge increase in our understanding of the genetic factors underlying a wide variety of eye diseases. This has included common conditions such as glaucoma and age-related macular degeneration, as well as those conditions which have...
Evaluation of ectopia lentis et pupillae (ELP)
The ADAMTSL4 gene encodes proteins for cellular adhesion, angiogenesis, nervous system development and anterior / posterior segment structures. This case report describes a four-year-old female with diagnosis at referral of ELP. A three-generation pedigree was obtained and was negative for...
Protecting retinal ganglion cells
1 August 2017
| Sofia Rokerya
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EYE - Glaucoma
Glaucoma is considered to be a heterogeneous group of conditions giving retinal ganglion cells (RGC) damage. Lowering intraocular pressure (IOP) reduces the risk of progressive RGC loss in glaucoma. Regeneration of the optic nerve has been shown to restore some...
