You searched for "Genetics"
Hereditary profile of retinal detachment
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...
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...A revolution in modern genetic testing for the clinical management of ocular disease
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...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.
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...
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...CRATER 2025
The Conference on Recent Advances in Translational Eye Research 2025In 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...
