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Genetic analysis of choroideremia families

1 February 2016 | | EYE - Vitreo-Retinal
Choroideremia (CHM) is a rare X linked recessive chorioretinal dystrophy. Symptoms include nyctalopia and progressive peripheral field loss. Female carriers may have mild symptoms. Choroideremia is known to be caused by a mutation in the CHM gene. A multicentre human...

Genetic profiles of primary strabismus

1 December 2018 | | EYE - Paediatrics, EYE - 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...
JAAPOS journal cover image.

Infantile nystagmus syndrome and use of genetic testing

2 August 2024 | | EYE - Paediatrics, EYE - Strabismus
This review aimed to assess the clinical utility of genetic testing for individuals with infantile nystagmus syndrome. The authors define infantile nystagmus syndrome as having an onset before six months of age, binocular and conjugate. The literature search was conducted...

Genetic profiling for personalised healthcare solutions in AMD – an update

1 August 2015 | | EYE - Vitreo-Retinal
Age-related macular degeneration (AMD) is a multifactorial condition influenced by genetics and lifestyle factors (Table 1). This article outlines several recent advances in AMD genetics, as well as evolving therapeutic concepts and established practical measures for the treatment and /...

A revolution in modern genetic testing for the clinical management of ocular disease

1 August 2016 | | EYE - Cataract, EYE - Pathology, EYE - Vitreo-Retinal
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...

Researchers identify a novel genetic cause of Fuchs endothelial corneal dystrophy

2 October 2025 | cornea, genetics, research, novel therapies, age-related vision loss
Researchers identify a novel genetic cause of Fuchs endothelial corneal dystrophy, offering new ways for future therapies to target this common, age-related cause of visual loss. In a landmark study, researchers supported by NIHR Moorfields Biomedical Research Centre, have identified...

Gene Vision launched to support those diagnosed with genetic eye diseases

2 December 2020
A new website, Gene Vision (https://gene.vision), has been developed by Professor Mariya Moosajee and Dr Alex Yeong, supported by Dr Peter Thomas (Director of Digital Innovation at Moorfields Eye Hospital). The new site is intended for adults, children and their families who are diagnosed with rare genetic eye diseases.

Genetic therapy gives infants life-changing improvements in sight

24 February 2025 | genetics, gene therapy, Moorfields, paediatrics, research, new, AIPL1, Leber Congenital Amaurosis
Four young children have gained life-changing improvements in sight following treatment with a pioneering new genetic medicine through Moorfields Eye Hospital and UCL Institute of Ophthalmology, with the support of MeiraGTx. The children were born with a severe impairment to...

Large-scale study uncovers demographic and sex factors behind genetic cause of age-related visual loss

25 March 2025 | FECD, vision loss, genetics, cornea, inherited eye condition, research, UCL, NIHR
A new study has identified a major genetic contributor to Fuchs’ Endothelial Corneal Dystrophy (FECD), a common cause of vision loss, also highlighting the significant roles of sex and ancestry. FECD is a common, inherited eye condition that primarily affects...

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

19 September 2024 | endothelial cells, age, vision loss, research, academic, new, genetics, genome, Fuchs Endothelial Corneal Dystrophy, FECD
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,...

RSM: Lang Lecture: A Genetic Trip Around the Globe

9 October 2025

UK Eye Genetics Group Annual Conference

9 June 2023
by Chloe M. Stanton, UK-EGG Treasurer, MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh Delegates including ophthalmic clinicians, clinical geneticists, genetic counsellors and research scientists travelled to Edinburgh from across the UK and Europe to attend...