You searched for "Genetics"

726 results found

New study uncovers key mechanism behind a common genetic cause of age-related visual loss

A groundbreaking study has revealed important insights into the mechanisms behind Fuchs Endothelial Corneal Dystrophy (FECD), a common cause of age-related visual loss, providing hope for future therapeutic developments, and finding implications for other neurological diseases. FECD is a common,...

How to pass FRCOphth Part 1 on the first attempt

Studying for this exam makes one wonder how there is so much to know about such a small organ. The FRCOphth Part 1 examination is notorious for its low pass rate, with only 20–40% of candidates succeeding at each sitting....

Age-related macular degeneration

This review article offers an up to date review of the genetic and environmental risk factors associated with aetiology surrounding age-related macular degeneration (AMD). The article briefly describes the typical clinical presentation relating to early and late stages of the...

Retinopathy of prematurity

This review article describes the pathophysiology of retinopathy of prematurity (ROP). The authors start by introducing the condition and its incidence. There is extensive information on the pathophysiology mechanisms involved in the condition to include normal and pathological retinal development....

Genetic profiles of primary strabismus

The authors explore the pedigree analysis of familial cases of primary concomitant strabismus (PCS) to unravel the genetic determinants of this strabismus. Of 2301 cases of PCS, 39 (1.7%) had familial clustering. This study recruited 18 families with esotropia and...

Understanding retinal ciliopathy through Bardet-Biedl syndrome

This is a review article looking at up-to-date understanding and ongoing research in retinal ciliopathies. Syndromic ciliopathies consist of a group of disorders caused by ciliary dysfunction or abnormal ciliogenesis. These disorders have multiorgan involvement in addition to retinal degeneration...

A to Z of X-linked retinopathies

This review article provides an excellent summary of X-linked retinopathies and the corresponding genotype and clinical features. The authors provide a comprehensive overview of each condition in terms of its pathogenesis, clinical features, imaging findings, electrophysiology changes and any current...

The past and the future for paediatric ophthalmology

The past 25 years have seen remarkable advances in clinical eye care for children in the UK. This has led to both improved outcomes and better patient and family experiences. There have been substantial changes to patient pathways, major advances...

Glaucoma UK introduces its first ever Pitts Crick Fellow

Glaucoma UK is delighted to announce the recipient of their first ever Pitts Crick Fellowship. This Fellowship was an important part of the charity’s 50th anniversary celebration throughout 2024. Its aim was to honour the legacy of the founder Ronald...

Conference Report: ARVO 2025 Annual Meeting

The Association for Research in Vision and Ophthalmology (ARVO) 2025 Annual Meeting was held at the Salt Palace Convention Centre in Salt Lake City, US. This prestigious event brought together experts in vision and ophthalmology from around the world for...

Medical Medway Fayre 2024

by Ines Lahlou Chettab, Ophthalmologist (Algeria), MCh Ophthalmology Student, Canterbury Christ Church University, UK. Over the past six years, the Institute of Medical Sciences of Canterbury Christ Church University has hosted the Medway Medical Fayre. This event was initiated and...

Oxford Rheumatology Library: Sjögren’s Syndrome

This is a handy little book which covers everything you need to do know (and then some) about Sjögren’s syndrome. It is split into nine sections: Epidemiology, genetics and disease burden Diagnosis and clinical assessment Oral features Ocular features Fatigue,...