You searched for "Gene"
CHARGE syndrome features
CHARGE syndrome (CS) includes coloboma, heart defects, atresia of the choanae, retardation of growth and development, genital and urinary anomalies and ear anomalies. The authors developed an original self-administered questionnaire (VISIOcharge) for patients with CS and used it to evaluate...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...FEVR characteristics
The authors report a series of 16 cases of familial exudative vitreoretinopathy (FEVR) in Northern Ireland (NI) to characterise the genetic patterns and identify other common characteristics relevant for current and future practice. This was a retrospective study including 12...Driving with retinitis pigmentosa
4 December 2023
| Ian Reekie
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EYE - Vitreo-Retinal
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Inherited retinal disease, driving standards, retinal dystrophy, retinal imaging, retinitis pigmentosa, visual field testing
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
1 March 2024
| Ian Reekie
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EYE - Vitreo-Retinal
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FST, PRPF31, RP11, Retinitis pigmentosa, asymptomatic carriers, non-penetrance
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?
3 September 2024
| Claire Howard
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EYE - Neuro-ophthalmology
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
2 June 2025
| Ian Reekie
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EYE - Vitreo-Retinal
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...
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
4 December 2023
| Nicky L Webster
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EYE - Imaging
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
1 October 2019
| Rod McNeil
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EYE - General
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
5 August 2022
| Zhihang Cheng
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EYE - Vitreo-Retinal
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...