You searched for "genetic"

1365 results found

Bosch-Boonstro-Schaaff optic atrophy syndrome (BBSOAS) NR2F1 mutation

An experienced ophthalmologist can make an anatomical diagnosis of childhood visual impairment based upon the surgical sieve, i.e., congenital and acquired. But an ophthalmologist cannot work in isolation to make an aetiological diagnosis – one would require the help of...

Features of idiopathic versus non-idiopathic ocular motor apraxia

The aim of this study was to describe the characteristics and outcomes of ocular motor apraxia (OMA) in a paediatric neuro-ophthalmology clinic over 10 years. This was a retrospective case review and included 37 patients of which 46% were idiopathic...

Macular pigment in relatives of AMD patients

Blue light causes photo-oxidative retinal injury and macular pigment (MP), with lutein, zeaxanthin and mesozeaxanthin as the main components, as a filter that protects the macula from this damage. Previous studies indicated that low levels of macular pigment optical density...

UK Paediatric Glaucoma Society Annual Meeting 2025

by Hussain Aluzri, Junior Glaucoma Cinical Research Fellow, Birmingham Midland Eye Centre, UK. The UKPGS 2025 conference was another resounding success, held on 24 January 2025 at the Cavendish Conference Centre, London. The event commenced with an opening address by...

A short survey of the views of clinicians on the role of procedure-specific consent forms

Informed consent is an ethical and legal right of every patient [1]. It is essential that patients receive clear, concise and accurate information regarding the risks, benefits and alternatives to a potential intervention. In addition to this, the patient must...

Functional visual field loss using automated static perimetry

Functional visual field loss is traditionally assessed by kinetic perimetry, typically producing spiralling isopters. This study looked at the spatial distributions of functional field deficits using automated static perimetry. A retrospective review of automated perimetry records was conducted using a...

Should we move towards procedure-specific consent forms?

The consent process represents the patient’s acceptance of the information provided to them and an agreement to undergo an intervention as suggested by a health professional. Effective doctor-patient communication, ensuring the succinct delivery of the necessary points in a way...

Visual prognosis in Irish Leber’s hereditary optic neuropathy

Leber’s hereditary optic neuropathy (LHON) is an inherited optic neuropathy This paper presents a retrospective review of clinical data from patients with LHON presenting to an Irish tertiary referral ophthalmic hospital. Clinical and genetic characteristics were assessed for useful biomarkers...

New webinar series on sight loss and genomic research

A new webinar series highlighting the latest scientific developments and the future of research will be launched next week.

Insights from the ‘Rb-NET Challenges’ Session: Evolving approaches in global retinoblastoma management

The Retinoblastoma Network (Rb-NET) Multidisciplinary Team (MDT) platform, developed by the London School of Hygiene & Tropical Medicine (LSHTM) and Professor Ido Didi Fabian, is a web-based telemedicine initiative that regularly hosts virtual MDT meetings focused on the evaluation and...

Twenty-five years in retina

In the next of our articles celebrating 25 years of Eye News, the authors look at how the retina specialty has changed over this time and ask what the future might hold. Retinal disease management has benefited from great advances...