You searched for "gene"

245 results found

CD40L activation of human RPE cells

Age-related macular degeneration (AMD) is the leading cause of reduced visual acuity in the elderly worldwide. The risk factors involved in AMD include smoking and diet, while genetics have been shown to have a significant role. Recently a link between...

Chronic lymphocytic leukaemia (CLL) of the lacrimal sac

The authors present a case series of three patients with known CLL, two of which presented with mass and epiphora and one case with epiphora alone. All three patients had initially being diagnosed and were treated for chronic dacryocystitis. Histopathological...

Prognostication for uveal melanoma

The authors highlight the importance of using all available data in the prognostication of uveal melanoma (UM). Over recent years a number of molecular tests have emerged to allow clinicians to predict metastatic potential of UM. However, concordance between techniques...

Driving with retinitis pigmentosa

The authors present a study of 228 consecutive patients with a clinical or genetic diagnosis of retinitis pigmentosa. Data was collected prospectively between January 2012 and October 2022 in Perth, Australia. The study aimed to determine the proportion of patients...

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...

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...

Could idebenone by the solution for treating dominant optic atrophy?

Dominant optic atrophy (DOA) is a disease of the retinal ganglion cells, with no current treatment options. In most cases, DOA is caused by a mutation in the OPA1 gene. The aim of this study was to evaluate the effect...

The art of ophthalmic simulations

For Dec/Jan 2024, I got in touch with Nicky Webster, a Principal 3D Artist at FundamentalVR (https://fundamentalsurgery.com). Nicky is also a registered medical illustrator, healthcare scientist and medical photographer. With over 18 years of experience working in various disciplines within...

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...

Corporate M&A pace gathers momentum

Intensifying franchise competition, maturing product development pipelines and looming loss of exclusivity spur renewed merger and acquisition (M&A) activity in the ophthalmics sector. Rod McNeil reviews recent deals and related strategic developments. AbbVie to acquire Allergan in $63 billion mega-combination,...

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...

Eye research: where next?

Eye research in the UK is underfunded relative to other areas of medical research and general awareness of sight loss and its prevention remains poor, messages that were reinforced in presentations and discussions during a recent research summit meeting in...