Re: The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus.

Letter to the editor

Handheld Optical Coherence Tomography in a Young Infant With Albinism and Fovea Plana.

We present handheld optical coherence tomography (OCT) diagnosis of Grade 4 foveal hypoplasia (fovea plana) in a 28-day-old infant with albinism. Grade 4 foveal hypoplasia is characterized by the absence of the foveal pit, absence of outer segment lengthening, and absence of outer nuclear layer widening. Binocular visual acuity at 58 months follow-up was 1.2 logarithm of the minimal angle of resolution (logMAR). We describe our handheld OCT acquisition protocol and compare the morphological features with a healthy, age-matched control subject

Response to spectral-domain optical coherence tomography foveal morphology as a prognostic factor for vision performance in congenital aniridia

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Detection of intracranial hypertension in children using optical coherence tomography: a systematic review protocol.

INTRODUCTION:Intracranial hypertension (ICH) in children can have deleterious effects on the brain and vision. It is notoriously difficult to estimate intracranial pressure (ICP) in children and existing methods deliver suboptimal diagnostic accuracy to be used as screening tools. Optical coherence tomography (OCT) may represent a valuable, non-invasive surrogate measure of ICP, as has been demonstrated in a number of associated conditions affecting adults. More recently, OCT has been employed within the paediatric age group. However, the role of OCT in detecting ICH in children has not been rigorously assessed in a systematic review for all relevant conditions. Here, we propose a systematic review protocol to examine the role of OCT in the detection of ICH in children. METHODS AND ANALYSIS:Electronic searches in the Cochrane Central Register of Controlled Trials, Medline, Embase, Web of Science and PubMed will identify studies featuring OCT in detecting ICH in children. Two independent screeners will identify studies for inclusion using a screening questionnaire. The systematic search and screening will take place between 2 April 2020 and 1 June 2020, while we aim to complete data analysis by 1 September 2020. Quality assessment will be performed using the National Institutes of Health Quality Assessment Tool for Observational Cohort and Cross-Sectional Studies. The primary outcome measure is the sensitivity and specificity of OCT in detecting ICH in children. Secondary outcomes measures include conditions associated with ICH per study, direct ICP monitoring, sensitivity and specificity of other measures for ICP and OCT parameters used. ETHICS AND DISSEMINATION:Ethical approval is not required for the proposed systematic review as no primary data will be collected. The findings will be disseminated through presentations at scientific meetings and peer-reviewed journal publication. PROSPERO REGISTRATION NUMBER:CRD42019154254

British doctors' work-life balance and home-life satisfaction: a cross-sectional study

PurposeTo assess British doctors’ work–life balance, home-life satisfaction and associated barriers.Study designWe designed an online survey using Google Forms and distributed this via a closed social media group with 7031 members, exclusively run for British doctors. No identifiable data were collected and all respondents provided consent for their responses to be used anonymously. The questions covered demographic data followed by exploration of work–life balance and home-life satisfaction across a broad range of domains, including barriers thereto. Thematic analysis was performed for free-text responses.Results417 doctors completed the survey (response rate: 6%, typical for online surveys). Only 26% reported a satisfactory work–life balance; 70% of all respondents reported their work negatively affected their relationships and 87% reported their work negatively affected their hobbies. A significant proportion of respondents reported delaying major life events due to their working patterns: 52% delaying buying a home, 40% delaying marriage and 64% delaying having children. Female doctors were most likely to enter less-than-full-time working or leave their specialty. Thematic analysis revealed seven key themes from free-text responses: unsocial working, rota issues, training issues, less-than-full-time working, location, leave and childcare.Conclusions This study highlights the barriers to work–life balance and home-life satisfaction among British doctors, including strains on relationships and hobbies, leading to many doctors delaying certain milestones or opting to leave their training position altogether. It is imperative to address these issues to improve the well-being of British doctors and improve retention of the current workforce.</div

Home-based screening tools for amblyopia: a systematic review protocol

Introduction Amblyopia is an important public health concern associated with functional vision loss and detrimental impact on the physical and mental well-being of children. The gold standard for diagnosis of amblyogenic conditions currently involves screening by orthoptists and/or ophthalmologists. The bloom of technology enables the use of home-based screening tools to detect these conditions at an early stage by the layperson in community, which could reduce the burden of screening in the community, especially during restrictions associated with the COVID-19 pandemic. Here, we propose a systematic review aiming to evaluate the accuracy and reliability of home-based screening tools compared with the existing gold standard. Methods and analysis We aim to search for studies involving home-based screening tools for amblyopia among children aged under 18 years. Oxford Centre for Evidence-Based Medicine Level 4 evidence and above will be included, without language or time restrictions. The following platforms will be searched from inception to 31 August 2021: PubMed, Medline, The Cochrane Library, Embase, Web of Science Core Collection and Clinicaltrials.gov. Two independent reviewers will identify studies for inclusion based on a screening questionnaire. The search and screening will start on 14 August 2021 until 1 October 2021. We aim to complete our data analysis by 30 November 2021. Risk of bias will be assessed using the Quality Assessment of Diagnostic Accuracy Studies 2 (QUADAS-2) tool for diagnostic accuracy studies only. Our primary outcome measure is the diagnostic accuracy of home-based screening tools, while secondary outcome measures include validity, feasibility, reproducibility and cost-effectiveness, where available. Ethics and dissemination Ethical approval is not necessary as no primary data will be collected. The findings will be disseminated through presentations at scientific meetings and peer-reviewed journal publication. PROSPERO registration number CRD42021233511.</div

Long-term ocular and visual outcomes following symptomatic and asymptomatic congenital CMV infection: a systematic review protocol

Cytomegalovirus (CMV) is one of the most common congenitally acquired infections worldwide. Visual impairment is a common outcome for symptomatic infants, with long-term ophthalmic surveillance often recommended. However, there are no clear guidelines for ophthalmic surveillance in infants with asymptomatic disease. We aim to conduct a systematic review to establish the overall prevalence and incidence of eye and vision related disorders following congenital CMV infection (cCMV).A systematic review and meta-analysis (pending appropriate data for analysis) of cross-sectional and longitudinal studies will be conducted. The PubMed, Embase and CINAHL databases will be searched up to 29 March 2022 without date or language restrictions. Studies will be screened by at least two independent reviewers. Methodological quality of included studies will be assessed using the Joanna Briggs Institute tool. The primary outcome measures will be incidence and/or prevalence of vision impairment or ophthalmic disorders in patients with symptomatic and asymptomatic cCMV infection. A narrative synthesis will be conducted for all included studies. The overall prevalence will be estimated by pooling data using a random-effects model. Heterogeneity between studies will be estimated using Cochran's Q and the I2 statistics. Egger's test will be used to assess for publication bias.Ethical approval is not required as there is no primary data collection. Study findings will be disseminated at scientific meetings and through publication in peer-reviewed journals.This is not a clinical trial, but the protocol has been registered: CRD42021284678 (PROSPERO). </h4