You searched for "genetics"
Exploiting nature’s randomised trials of eye disease
1 December 2022
| Skanda Rajasundaram, Dalia Abdulhussein, Christopher Bentley (Prof), Shafi Balal, Minak Bhalla
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EYE - Glaucoma, EYE - Vitreo-Retinal, EYE - Orbit
Confounding and reverse causation in observational ophthalmic epidemiology Traditional observational studies are inherently limited in establishing a causal effect of an exposure on an outcome of interest. One fundamental limitation is confounding, whereby causation is incorrectly attributed to a third...
180 MCQs for the Duke Elder Examination
1 February 2022
| Vinay Badhwar
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EYE - General
The Duke-Elder Undergraduate Prize Exam is a competitive exam aimed at undergraduates with an interest in ophthalmology. It is amongst the most prestigious undergraduate prizes in the United Kingdom. I would encourage motivated candidates to get their hands on as...
Enucleation refusal for retinoblastoma
1 October 2016
| Huw Edward Oliphant
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Enucleation refusal, global survival disparity, health inequalities, retinoblastoma, treatment compliance, treatment delay
Retinoblastoma is the most common eye cancer in childhood, with enucleation rarely being the only lifesaving surgical option, especially where evidence of extraocular spread is apparent. This study sought to survey a global pool of eye care professionals with regards...
Resolution of mid-peripheral schisis in x-linked retinoschisis with the use of dorzolamide
1 October 2014
| Huw Edward Oliphant
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EYE - Vitreo-Retinal
X-linked retinoschisis (XLRS) is an early onset hereditary retinal dystrophy. It is caused by mutations of the RS1 gene. Common manifestations of XLRS are schitic lesions at the macula, as well as infero-temporal schisis. Carbonic anhydrase inhibitors have previously been...
The prevalence of macular cysts in patients with clinical cone-rod dystrophy determined by spectral domain optical coherence tomography
1 August 2014
| Huw Edward Oliphant
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EYE - Vitreo-Retinal
Cone-rod dystrophy is a progressive photoreceptor disorder which has multiple inheritance patterns. It is rare, with a prevalence of 1 in 40,000. Macular cysts are well recognised in other photoreceptor conditions such as retinitis pigments and choroideraemia, while they are...
Comprehensive review of inherited retinal diseases
3 June 2024
| Zhihang Cheng
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EYE - Vitreo-Retinal
The authors offer an up-to-date review of inherited retinal diseases (IRDs). In each section the authors discuss the molecular basis of disease, genotype and clinical manifestation. They also discuss the investigation findings and current evidence in the treatment of the...
Stargardt disease in a Turkish cohort
2 August 2024
| Ian Reekie
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EYE - Vitreo-Retinal
The authors present a study of 27 Turkish patients who were seen in a single centre over a five-year period. All patients had macular optical coherence tomography (OCT), colour fundus photography and 30-2 Humphery visual fields performed, along with clinical...
PAX6 methylation and myopia
2 December 2024
| Ian Reekie
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EYE - Vitreo-Retinal
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...
Bardet Biedl refractive error
This is a retrospective cross-sectional study of 45 patients with genetically diagnosed Bardet Biedl syndrome. Patients with biallelic defects in any gene known to cause Bardet Biedl syndrome were eligible for inclusion. Patients underwent cycloplegic refraction and keratometry. The mean...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...
Ovarian hormones drive onset of Sjogren’s disease in mice
1 December 2014
| Graham Wallace
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EYE - Cornea, EYE - General
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Sjögren’s Syndrome, lacrimal glands, sex hormones, cytokines, anti-Ro/SSA, anti-La/SSB, NOD.B10.H2b
Sjogren’s syndrome (SS) is a debilitating, sight-threatening, systemic autoimmune disease with no effective treatment available. SS is characterised by lacrimal gland lymphocytic infiltration and epithelial cell death, as well as by the presence of serum autoantibodies. Patients have severe dry...
