Phenome- and genome-wide analyses of retinal optical coherence tomography images identify links between ocular and systemic health.

The human retina is a multilayered tissue that offers a unique window into systemic health. Optical coherence tomography (OCT) is widely used in eye care and allows the noninvasive, rapid capture of retinal anatomy in exquisite detail. We conducted genotypic and phenotypic analyses of retinal layer thicknesses using macular OCT images from 44,823 UK Biobank participants.

Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden.

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.

Design, Setting, And Participants: This was a cross-sectional, population-based study conducted from 2006 to 2010.

Estimating the rate of severe visual loss (wipe-out) following cataract surgery, a British Ophthalmological Surveillance Unit (BOSU) study.

Background: A sudden, irreversible reduction in visual acuity ('wipe-out') is a feared complication of cataract surgery. Current literature on wipe-out is limited in quantity and quality, and largely predates modern cataract surgery and imaging techniques. The objectives of our study were to estimate the incidence of wipe-out and to identify potential risk factors.

Insights into human health from phenome- and genome-wide analyses of UK Biobank retinal optical coherence tomography phenotypes.

The human retina is a complex multi-layered tissue which offers a unique window into systemic health and disease. Optical coherence tomography (OCT) is widely used in eye care and allows the non-invasive, rapid capture of retinal measurements in exquisite detail. We conducted genome- and phenome-wide analyses of retinal layer thicknesses using macular OCT images from 44,823 UK Biobank participants.

Measures of multiple deprivation and visual field loss in glaucoma clinics in England: lessons from big data.

Background/objectives: To examine the association between multiple deprivation with late diagnosis and rapid worsening of glaucoma in patients in English hospital eye services (HES).

Methods: 602,439 visual fields (VFs) were extracted from five regionally different glaucoma clinics in England. Mean Deviation (MD) worse than -12 dB was used as a surrogate definition for advanced VF loss at diagnosis in patients with ≥2 reliable VF records.

Association of retinal optical coherence tomography metrics and polygenic risk scores with cognitive function and future cognitive decline.

Purpose: To evaluate the potential of retinal optical coherence tomography (OCT) measurements and polygenic risk scores (PRS) to identify people at risk of cognitive impairment.

Methods: Using OCT images from 50 342 UK Biobank participants, we examined associations between retinal layer thickness and genetic risk for neurodegenerative disease and combined these metrics with PRS to predict baseline cognitive function and future cognitive deterioration. Multivariate Cox proportional hazard models were used to predict cognitive performance.

Effect of visual impairment on depression and anxiety during the COVID-19 pandemic in the United States.

Objective: To evaluate associations between visual impairment, anxiety, and depression during the COVID-19 pandemic in the US.

Design: Retrospective cross-sectional METHODS: This study included a cohort of US adults enrolled in the National Institute of Health All of Us Research Program. Individuals who were blind/visually impaired (BVI) were identified via SNONMED codes and compared to a control cohort.

Nystagmus in Down Syndrome - a Retrospective Notes Review.

Introduction: Nystagmus has been reported in up to 30% of people with Down Syndrome (DS), and yet is still not well understood. Our study aims to characterise the clinical features of patients with DS and nystagmus.

Methods: A retrospective medical-records review was conducted of all patients with a diagnosis of DS and nystagmus seen at Moorfields Eye Hospital over a ten-year period.

Associations with Corneal Hysteresis in a Population Cohort: Results from 96 010 UK Biobank Participants.

Purpose: To describe the distribution of corneal hysteresis (CH) in a large cohort and explore its associated factors and possible clinical applications.

Design: Cross-sectional study within the UK Biobank, a large cohort study in the United Kingdom.

Participants: We analyzed CH data from 93 345 eligible participants in the UK Biobank cohort, aged 40 to 69 years.

Phakic intraocular lens as a temporary barrier in aphakic Descemet's membrane endothelial keratoplasty.

Background: Descemet's membrane endothelial keratoplasty has a lower risk of endothelial rejection than Descemet's stripping automated endothelial keratoplasty. In aphakic eyes requiring endothelial transplantation, approaches aimed at reducing the risk of posterior graft dislocation in Descemet's stripping automated endothelial keratoplasty are not transferable to Descemet's membrane endothelial keratoplasty.

Technique: Here we describe the use of an implantable collamer lens placed over the iris to provide a temporary intraoperative platform, to facilitate graft unfolding and to avoid posterior graft dislocation in an aphakic, vitrectomised eye with a fixed, dilated pupil in a young patient with chronic uveitis and previous failed Descemet's stripping automated endothelial keratoplasty.

Associations with Retinal Pigment Epithelium Thickness Measures in a Large Cohort: Results from the UK Biobank.

Purpose: To describe associations of ocular and systemic factors with retinal pigment epithelium (RPE)-Bruch's membrane (BM) complex thickness as measured by spectral-domain (SD) optical coherence tomography (OCT).

Design: Multisite community-based study. This research has been conducted using the UK Biobank Resource.

Complications secondary to cosmetic artificial iris anterior chamber implants: a case report.

Background: Artificial iris anterior chamber implants were originally developed for therapeutic purposes but have been used recently for the cosmetic alteration of eye colour. There is a growing body of evidence surrounding their associated risks. We report a case presenting with complications secondary to bilateral NewColorIris® implants, including the first report of pressure-induced stromal keratopathy in this context.

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

Bestrophin-1 is preferentially expressed at the basolateral membrane of the retinal pigmented epithelium (RPE) of the retina. Mutations in the BEST1 gene cause the retinal dystrophies vitelliform macular dystrophy, autosomal-dominant vitreochoroidopathy, and autosomal-recessive bestrophinopathy. Here, we describe four missense mutations in bestrophin-1, three that we believe are previously unreported, in patients diagnosed with autosomal-dominant and -recessive forms of retinitis pigmentosa (RP).