You searched for "genetic"
Patient reported outcomes in adolescents with inherited retinal diseases
This was a two-centre validation study of two sets of patient reported outcome measures (PROMS) for adolescents (13-17- years-old) with inherited retinal diseases. The measures were the Michigan Retinal Degeneration Questionnaire (MRDQ) and the Michigan Vision-Related Anxiety Questionnaire (MVAQ). Both...
PRPF31-related retinitis pigmentosa and asymptomatic carriers
The authors present a study of 21 patients with variants in the PRPF31 gene classified as pathogenic or likely pathogenic. These variants are caused by autosomal dominant retinitis pigmentosa (RP-11). Between January 2020 and November 2021 patients underwent tests of...
Transcriptomic and regulatory gene associations in open angle glaucoma
The authors report a study utilising a publicly available whole exome sequencing dataset of 28 patients with primary open angle glaucoma (POAG) and seven healthy control patients, and a transcriptomic dataset from the trabecular meshwork of four POAG patients and...Moorfields: The 2025 macula course
The 2025 Macula course will take place from 2nd - 5th June 2025. Bookings are now open. Retinal diseases are a major cause of blindness. Diagnostic investigations, understanding of disease mechanisms, new therapies, and the evidence base, have all evolved...An interview with Professor John Forrester
What made you choose ophthalmology as a career and how did your interest in academia develop? During Medical School at Glasgow University, I was getting progressively disillusioned with the career options while my colleagues and friends all seemed to quickly...In conversation with John Forrester
What made you choose ophthalmology as a career and how did your interest in academia develop? During Medical School at Glasgow University, I was getting progressively disillusioned with the career options while my colleagues and friends all seemed to quickly...3rd Ophthalmic Drug Delivery Summit
Translating Long Lasting Efficacy & Less Invasive Retinal Drug Delivery The importance of matching the right drug delivery route to the right ophthalmic disease is more pressing than ever. The 3rd Ophthalmic Drug Delivery Summit is the premier gathering for...Haag-Streit Academy launches bespoke training packages
Haag-Streit Academy is delighted to be able to offer bespoke training packages for groups of clinical staff at their premises, delivered by Haag-Streit UK product experts.Developments in retinal pigmentation measurement and the hopes of an equitable future
Our AI & Oculomics co-editor, Nima Ghadiri, sat down with Abraham Olvera-Barrios from Moorfields and Anand Rajesh from the University of Washington to discuss their recent international study into retinal pigmentation and its wider clinical, technological and academic applications. Can...Diary from my elective: a Parisian experience
The author explains how a research institute’s dedication to multidisciplinary collaboration helped him to discover a passion for academic ophthalmology. The elective aspect to the final year of a medical degree, through its change of scenery and immersion into another...
