You searched for "genetics"
Progression of macular atrophy in Stargardt disease
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
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
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)
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...
Complement factor B polymorphism and the phenotype of early age-related macular degeneration
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
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...
Basic and Clinical Science Course: Fundamentals and Principles of Ophthalmology 2019-2020 (updated textbooks)
The American Academy of Ophthalmology (AAO) has updated a few more books for the 2019-2020 version of their textbooks. They come with the same clean matt finish, but the colour scheme is a bright sunshine yellow instead of green. Although...
Differences of the anterior segment parameters in children with Down syndrome
This cross-sectional study was designed in order to demonstrate the differences in anterior segment parameters in children with trisomy 21. This is important as it may impact on surgical planning when undertaking procedures in the anterior segment such as corneal...
