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1520 results found

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...

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....

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...

Association between serum 25-hydroxyvitamin D levels and age-related cataracts

Cataractogenesis occurs as a result of ageing, smoking, exposure to UV radiation and genetic predisposition. Antioxidants can reduce the cataract risk as found in animal models and humans and vitamin D is one of them. This epidemiological study based in...

Effects of ML4 on the eye

Mucolipidosis type IV (ML4) is an autosomal recessive lysosomal storage disease and is caused by variants of the MC0LN1 gene. It often presents in young individuals with eye and ocular adnexa issues. The authors present a case report and literature...

Heidelberg Engineering Celebrates Eye2Gene™ AI Breakthrough in Precision Ophthalmology

Heidelberg Engineering proudly announces a significant advance in the use of artificial intelligence for ophthalmic diagnostics, with the publication of the Eye2Gene™ study in Nature Machine Intelligence. Titled “Next-generation phenotyping of inherited retinal diseases from multimodal imaging with Eye2Gene”, the...

Canadian centre experience with ocular cystinosis cases

Ocular cystinosis (OC) is an uncommon recessive genetic disease occurring in about one case per 100–200,000 live births. Patients have accumulation of cystine crystals within tissues. Ocular symptoms include photophobia, blepharospasm, foreign body sensation, retinopathy and visual impairment. Crystals have...

PAX6 methylation and myopia

The authors present a case control study of 41 adolescents (age 12–14) with myopia and 39 age- and sex-matched non-myopic controls. The myopic patients were sub-divided into mild, moderate and severe myopia subgroups. DNA was extracted from peripheral blood samples...

In conversation with Robert MacLaren

Professor Robert MacLaren gave the Keeler Lecture at the Royal College of Ophthalmologists Annual Meeting in May 2019 on gene therapy for retinitis pigmentosa. We caught up with him afterwards to find out more. What are the key messages of...