You searched for "genetics"
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...
Progression of macular atrophy in Stargardt disease
3 April 2024
| Ian Reekie
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EYE - Vitreo-Retinal
The authors present a study of a cohort of patients with genetically proven ABCA4 gene mutation related Stargardt disease. They aimed to quantify the effect of lesion location and topography on disease progression using fundus autofluorescence imaging. One hundred and...
RSM (Royal Society of Medicine) Squint Forum 2023
14 December 2023
This year’s annual Squint Forum meeting will be split into three sections. We will firstly examine Paediatric medical retina – with a focus on current research, genetics and ROP.
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...In conversation with Professor David Mackey at RCOphth 2019
23 May 2019
In this video Professor David Mackey talks to Eye News about the Edridge Green Lecture he gave on What colour are your eyes? The genetics of eye colour and colour vision Click the image below to see his answers to...
In conversation with Professor Usha Chakravarthy (2018)
1 March 2019
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EYE - Vitreo-Retinal, EYE - General
Professor Chakravarthy popped by the Eye News stand at the 2018 Royal College of Ophthalmologists Annual Congress after her excellent Bowman Lecture. She gave us a summary of her presentation, which looked at how our understanding of AMD has changed...
Septo-optic dysplasia – a case note review
2 August 2024
| Claire Howard
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EYE - Neuro-ophthalmology
Septo-optic dysplasia (SOD) is a congenital disorder belonging to the midline brain malformation group. The condition manifests as a classical triad, including optic nerve hypoplasia (ONH), agenesis of midline structures (absent septum pel-lucidum and agenesis of the corpus callosum), and...
Complement factor B polymorphism and the phenotype of early age-related macular degeneration
1 August 2014
| Huw Edward Oliphant
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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
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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...
Updated staging of LCHADD retinopathy
2 August 2024
| Ian Reekie
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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...
