Cathy Williams
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View article: Revisiting the Trans-Ancestry Genetic Correlation of Refractive Error
Revisiting the Trans-Ancestry Genetic Correlation of Refractive Error Open
These results support and extend previous work suggesting that genetic susceptibility to refractive error is largely shared across Europeans, Africans, and South Asians. This suggests geographical differences in myopia prevalence are mostl…
Evaluating the Prognostic Significance of Circulating Biomarkers of End Organ Damage in Hypertension Open
Background: Most patients with hypertension exhibit elevated and detectable levels of natriuretic peptides, particularly BNP and NT-proBNP, as well as troponin concentrations. However, the prognostic relevance of this finding has not been …
View article: Revisiting the Trans-Ancestry Genetic Correlation of Refractive Error
Revisiting the Trans-Ancestry Genetic Correlation of Refractive Error Open
Purpose The prevalence of myopia varies significantly across the globe. This may be a consequence of differences in exposure to lifestyle risk factors or differences in genetic susceptibility across ancestry groups. “Trans-ancestry genetic…
View article: Infantile Cerebellar‐Retinal Degeneration Associated With Novel <i>ACO2</i> Variants: Clinical Features and Insights From a <i>Drosophila</i> Model
Infantile Cerebellar‐Retinal Degeneration Associated With Novel <i>ACO2</i> Variants: Clinical Features and Insights From a <i>Drosophila</i> Model Open
Infantile Cerebellar‐Retinal Degeneration (ICRD) is an autosomal recessive neuro‐disability associated with hypotonia, seizures, optic atrophy, and retinal degeneration. Recessive variants of the mitochondrial aconitase gene ( ACO2 ) are a…
View article: Predictors of persisting symptoms after concussion in children following a traumatic brain injury: a longitudinal retrospective cohort study
Predictors of persisting symptoms after concussion in children following a traumatic brain injury: a longitudinal retrospective cohort study Open
Objectives To identify predictors of persisting symptoms after concussion (PSaC) in children, following any medically attended traumatic brain injury (TBI). Design Retrospective cohort study. Setting Linked primary and secondary care data …
A school-based intervention to improve mental health outcomes for children with cerebral visual impairment (CVI): feasibility cluster randomised trial Open
Background Cerebral visual impairment (CVI) refers to brain-related vision difficulties, which are often undiagnosed and may lead to poor mental health outcomes. We have developed an intervention to improve mental health outcomes for affec…
Dermal glucocorticoids are uncoupled from stress physiology and infection Open
Ongoing amphibian population declines are caused by factors such as climate change, habitat destruction, pollution and infectious diseases not limited to chytridiomycosis. Unfortunately, action is taken against these factors once populatio…
Estimating the True Effect of Lifestyle Risk Factors for Myopia: A Longitudinal Study of UK Children Open
We speculate that the effects of lifestyle risk factors for myopia have been underestimated in past studies.
Cerebral visual impairment is permanent but not unchanging Open
This commentary is on the original article by Galli et al. on pages 486–495 of this issue.
Optic disc parameters and associations with early life exposures in over 3 000 12-year-old children: findings from the ALSPAC cohort Open
Objectives We aimed to investigate the distribution of cupped and small optic discs in children and to examine associations with maternal and environmental factors. Methods Retinal photographs were graded from over 3000 12-year-olds in the…
View article: Convolutional neural network-based classification of glaucoma using optic radiation tissue properties
Convolutional neural network-based classification of glaucoma using optic radiation tissue properties Open
Background Sensory changes due to aging or disease can impact brain tissue. This study aims to investigate the link between glaucoma, a leading cause of blindness, and alterations in brain connections. Methods We analyzed diffusion MRI mea…
Time Spent Outdoors Partly Accounts for the Effect of Education on Myopia Open
Accounting for the effects of time outdoors reduced the estimated causal effect of education on myopia by 40%. These results suggest about half of the relationship between education and myopia may be mediated by children not being outdoors…
OC 39.4 Use of an In Vitro Platelet Production Approach to Assess the Effects of Chronic Cigarette and E-Cigarette Exposure on Platelet Generation and Function Open
we investigate the hypothesis that BDNF in platelet is of megakaryocytic origin.Aims: We investigated BDNF expression in human CD34+-derived megakaryocytes, BDNF release during megakaryopoiesis and the effect of BDNF on megakaryocyte matur…
View article: Calcium Channel Blocker Use and Associated Glaucoma and Related Traits Among UK Biobank Participants
Calcium Channel Blocker Use and Associated Glaucoma and Related Traits Among UK Biobank Participants Open
Importance Calcium channel blocker (CCB) use has been associated with an increased risk of glaucoma in exploratory studies. Objective To examine the association of systemic CCB use with glaucoma and related traits among UK Biobank particip…
View article: Retinal Optical Coherence Tomography Features Associated With Incident and Prevalent Parkinson Disease
Retinal Optical Coherence Tomography Features Associated With Incident and Prevalent Parkinson Disease Open
Individuals with PD have reduced thickness of the INL and GCIPL of the retina. Involvement of these layers several years before clinical presentation highlight a potential role for retinal imaging for at-risk stratification of PD.
View article: Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden
Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden Open
Importance Better understanding of primary open-angle glaucoma (POAG) genetics could enable timely screening and promote individualized disease risk prognostication. Objective To evaluate phenotypic features across genetic burden for POAG.…
Quality of Life at a 10-Year Follow-Up of Children Born Preterm with Post-Hemorrhagic Ventricular Dilatation: A Cohort Study Open
Background: Post-haemorrhagic ventricular dilatation (PHVD) is commonly seen in extremely preterm babies, carries significant morbidity, and may cause neonatal mortality. There is a lack of literature on the subsequent health-related quali…
Education interacts with genetic variants near GJD2, RBFOX1, LAMA2, KCNQ5 and LRRC4C to confer susceptibility to myopia Open
Myopia most often develops during school age, with the highest incidence in countries with intensive education systems. Interactions between genetic variants and educational exposure are hypothesized to confer susceptibility to myopia, but…
Effectiveness of early spectacle intervention on visual outcomes in babies at risk of cerebral visual impairment: a parallel group, open-label, randomised clinical feasibility trial protocol Open
Introduction Hypoaccommodation is common in children born prematurely and those with hypoxic ischaemic encephalopathy (HIE), with the potential to affect wider learning. These children are also at risk of longer-term cerebral visual impair…
View article: Vision function in children 10 years after grade 3 or 4 intraventricular haemorrhage with ventricular dilation: A masked prospective study
Vision function in children 10 years after grade 3 or 4 intraventricular haemorrhage with ventricular dilation: A masked prospective study Open
Aim We examined children 10 to 11 years after grade 3 or 4 intraventricular haemorrhage and ventricular dilation (IVHVD) and investigated whether the grade of IVHVD affected their visual outcome. We explored associations between visual out…