You searched for "Gene"
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...
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...
Choroideremia in women
The authors report a questionnaire-based study of female carriers of choroideremia, an X-linked inherited chorioretinal dystrophy. As an X-linked condition the full clinical features are predominantly seen in men but a proportion of women suffer some morbidity, likely due to...
Ethnic disparities in diagnostic sequencing yield
The authors present a systematic review and meta-analysis of the diagnostic yield of next generation sequencing (NGS) for inherited retinal diseases and compare yield from studies performed primarily on patients of European descent from those primarily of East Asian descent....From spine to eye: The benefits of multidisciplinary research
What have spinal and vision research got in common? More than you’d think. Dr Richard Eva. Funded by Fight for Sight, Dr Richard Eva came to vision from spinal cord research and is now co-lead on a project related to...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...Conference Report: The Medical Ophthalmology Society UK (MOSUK) 26th Annual Meeting
The Medical Ophthalmology Society UK (MOSUK) held its 26th annual meeting on 26 February 2025 at the International Students House in Great Portland Street, London. Medical ophthalmology is a distinctive and holistic speciality that encompasses the investigation, diagnosis, and management...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,...
