You searched for "genetic"

1395 results found

APAM (Association of Physicians of Great Britain and Ireland) 118th Annual Meeting 2025

Welcome to APAM 2025 - What Awaits? APAM 2025, the 118th Annual Meeting of the AoPGBI, will take place on 3–4 April 2025 at the Royal College of Physicians in London. This prestigious event will bring together leading clinicians, researchers,...

Gene profiling for a family with Duane’s retraction syndrome

The aim of this study was to describe the clinical and genomic features of a family with special types of Duane’s retraction syndrome (DRS). The mother and son had obvious clinical features. The son displayed features of horizontal gaze palsy...

23rd Medical Ophthalmological Society Meeting

09.00-17.00pm

Retina UK Annual Conference 2025

The Retina UK Conference is an excellent opportunity to find out the latest news from Retina UK, hear from expert speakers, meet other members of our community and to make new connections. The line-up for their 50th anniversary year conference...

The Duke Elder Exam of Ophthalmology: A Comprehensive Guide for Success

The Duke Elder Exam is an annual competitive national undergraduate exam organised by the Royal College of Ophthalmologists. This two-hour exam consists of 90 multiple-choice questions (MCQs) and examines clinical ophthalmology, ocular physiology, anatomy, pathology, genetics and socio-economic medicine related...

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...

Ocular sequalae of spinal muscular atrophy

The authors present a retrospective single-centre cohort study of patients with spinal muscular atrophy – a neurodegenerative disorder presenting between infancy and early adulthood. Forty-eight patients were included in total, with roughly equal numbers of types 1, 2 and 3...

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...