You searched for "Gene"
Effect of minor trauma in eyes with previously undiagnosed angioid streaks
1 April 2014
| Balini Balasubramaniam
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EYE - Cataract, EYE - Cornea, EYE - General, EYE - Glaucoma, EYE - Imaging, EYE - Neuro-ophthalmology, EYE - Oculoplastic, EYE - Oncology, EYE - Orbit, EYE - Paediatrics, EYE - Pathology, EYE - Refractive, EYE - Strabismus, EYE - Vitreo-Retinal
Angioid streaks (AS) may be associated with pseudoxanthoma elasticum (PXE), Paget’s disease, haemoglobulinopathies, Ehlers-Danlos Syndrome or abetalipoproteinaemia. Histopathology showed retinal pigment epithelium (RPE) and choriocapillaris loss, elastic fibre degeneration, calcium deposition, active choroidal neovascular membrane (CNVM) and vascular endothelial growth...
Bosch-Boonstro-Schaaff optic atrophy syndrome (BBSOAS) NR2F1 mutation
4 December 2023
| Soman Raman, Neda Qurashi, Qasim Mansoor
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EYE - Neuro-ophthalmology
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...
Rare eye diseases: progress continues with authorised orphan medicines and breakthrough technologies
1 October 2018
| Rod McNeil
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EYE - General
An update on the development of orphan medicines, recent regulatory treatment approvals for rare eye conditions and advances in retinal prosthetic technologies for blinding diseases. The prevalence of a rare disease is based usually on a range of estimates and...
My top five Apps for UK-based general ophthalmologists
1 October 2021
| Yarrow Scantling-Birch, Rajagopal Govindan, Hasan Naveed
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EYE - General
The way we interact in society is changing as more of us are becoming ‘digital natives’: individuals who are in close contact to the internet and expect to integrate smart devices with our daily lives. This was stereotypically a term...
My Top Five: Apps for UK-based general ophthalmologists
1 October 2021
| Yarrow Scantling-Birch, Rajagopal Govindan, Hasan Naveed
|
EYE - General
The way we interact in society is changing as more of us are becoming ‘digital natives’: individuals who are in close contact to the internet and expect to integrate smart devices with our daily lives. This was stereotypically a term...
Boosting key protein in eye cells could prevent age-related vision loss, international team finds
Increasing the levels of a key protein in the cells at the back of the eye could help protect against the leading cause of vision loss among older adults, finds a new discovery made by researchers from the UK, US, Germany and Australia.What's trending Aug/Sep 2021
4 August 2021
| David Ellis
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EYE - Cataract, EYE - Refractive, EYE - Cornea, EYE - Vitreo-Retinal, EYE - General
A round-up of the eye-related hot topics that have been trending on social media over the last few weeks. #algae #optogenetics Scientists in Paris have used optogenetics to partially restore sight in a blind man’s eye who was diagnosed with...
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...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...CD40L activation of human RPE cells
1 August 2018
| Graham Wallace
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EYE - Vitreo-Retinal
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...
Cytokine levels in vitreous fluid in patients with pathological myopia
1 April 2020
| Kurt Spiteri Cornish
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EYE - Vitreo-Retinal
Pathological myopia (PM) is a leading cause of irreversible visual impairment worldwide, and efforts are dedicated to the study of its underlying mechanisms. Axial extension of the eyeball is regulated via a cascade of biochemical molecules that are initiated in...