Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom.

Purpose: To quantify relevant fundus autofluorescence (FAF) features cross-sectionally and longitudinally in a large cohort of patients with inherited retinal diseases (IRDs).

Design: Retrospective study of imaging data.

Participants: Patients with a clinical and molecularly confirmed diagnosis of IRD who have undergone 55° FAF imaging at Moorfields Eye Hospital (MEH) and the Royal Liverpool Hospital between 2004 and 2019.

Adaptive optics scanning laser ophthalmoscopy in a heterogenous cohort with Stargardt disease.

Image based cell-specific biomarkers will play an important role in monitoring treatment outcomes of novel therapies in patients with Stargardt (STGD1) disease and may provide information on the exact mechanism of retinal degeneration. This study reports retinal image features from conventional clinical imaging and from corresponding high-resolution imaging with a confocal adaptive optics scanning laser ophthalmoscope (AOSLO) in a heterogenous cohort of patients with Stargardt (STGD1) disease. This is a prospective observational study in which 16 participants with clinically and molecularly confirmed STGD1, and 7 healthy controls underwent clinical assessment and confocal AOSLO imaging.

Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom.

Purpose: To quantify relevant fundus autofluorescence (FAF) image features cross-sectionally and longitudinally in a large cohort of inherited retinal diseases (IRDs) patients.

Design: Retrospective study of imaging data (55-degree blue-FAF on Heidelberg Spectralis) from patients.

Participants: Patients with a clinical and molecularly confirmed diagnosis of IRD who have undergone FAF 55-degree imaging at Moorfields Eye Hospital (MEH) and the Royal Liverpool Hospital (RLH) between 2004 and 2019.

Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene).

Introduction: Inherited retinal diseases (IRD) are a leading cause of visual impairment and blindness in the working age population. Mutations in over 300 genes have been found to be associated with IRDs and identifying the affected gene in patients by molecular genetic testing is the first step towards effective care and patient management. However, genetic diagnosis is currently slow, expensive and not widely accessible.

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.

Background: This study aimed to compare phenotype−genotype correlation in patients with Usher syndrome (USH) to those with autosomal recessive retinitis pigmentosa (NS-ARRP) caused by genes associated with Usher syndrome. Methods: Case notes of patients with USH or NS-ARRP and a molecularly confirmed diagnosis in genes associated with Usher syndrome were reviewed. Phenotypic information, including the age of ocular symptoms, hearing impairment, visual acuity, Goldmann visual fields, fundus autofluorescence (FAF) imaging and spectral domain optical coherence tomography (OCT) imaging, was reviewed.

The role of multimodal imaging and vision function testing in -related retinopathies and their relevance to future therapeutic interventions.

The aim of this review article is to describe the specific features of Stargardt disease and retinopathies (ABCA4R) using multimodal imaging and functional testing and to highlight their relevance to potential therapeutic interventions. Standardised measures of tissue loss, tissue function and rate of change over time using formal structured deep phenotyping in Stargardt disease and ABCA4R are key in diagnosis, and prognosis as well as when selecting cohorts for therapeutic intervention. In addition, a meticulous documentation of natural history will be invaluable in the future to compare treated with untreated retinas.

Association of donor hepatitis C virus infection status and risk of BK polyomavirus viremia after kidney transplantation.

Kidney transplantation (KT) from deceased donors with hepatitis C virus (HCV) into HCV-negative recipients has become more common. However, the risk of complications such as BK polyomavirus (BKPyV) remains unknown. We assembled a retrospective cohort at four centers.

An Overview of the Genetics of Retinopathies, an Evolving Story.

Stargardt disease (STGD1) and retinopathies (ABCA4R) are caused by pathogenic variants in the gene inherited in an autosomal recessive manner. The gene encodes an importer flippase protein that prevents the build-up of vitamin A derivatives that are toxic to the RPE. Diagnosing ABCA4R is complex due to its phenotypic variability and the presence of other inherited retinal dystrophy phenocopies.

Genetic and Clinical Findings in an Ethnically Diverse Cohort with Retinitis Pigmentosa Associated with Pathogenic Variants in CERKL.

Autosomal recessive retinitis pigmentosa is caused by mutations in over 40 genes, one of which is the ceramide kinase-like gene (). We present a case series of six patients from six unrelated families diagnosed with inherited retinal dystrophies (IRD) and with two variants in recruited from a multi-ethnic British population. A retrospective review of clinical data in these patients was performed and included colour fundus photography, fundus autofluorescence (AF) imaging, spectral domain-optical coherence tomography (SD-OCT), visual fields and electroretinogram (ERG) assessment where available.

Rapid, Fatal Acute Right Ventricular Failure After Locoregional Cytokine Therapy for Uveal Melanoma Liver Metastases.

Locoregional cytokine treatment, or immunoembolization, is an experimental targeted therapy for uveal melanoma metastatic to the liver. Unlike systemic cytokine treatments that have been associated with substantial toxicity, this method of drug delivery appears to be better tolerated. Because this newer therapy is being prescribed more widely, oncologists, interventional radiologists, cardiologists, pulmonologists, critical care specialists, and other providers should become familiar with potential adverse reactions.

Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.

Introduction: Diagnostic next generation sequencing (NGS) services for patients with inherited retinal diseases (IRD) traditionally use gene panel based approaches, which have cost and resource implications. Phenotype-based gene panels use a targeted strategy with further testing protocols, if initial results are negative. We present the molecular findings of the Oxford phenotype-based NGS panels for genetic testing in IRD.

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.

Importance: Detailed phenotypic information on the spectrum of fundus abnormalities and clinical variability of all phenotypes associated with sequence variations in BEST1 is limited.

Objective: To report a detailed phenotypic and genetic analysis of a patient cohort with sequence variations in BEST1.

Design, Setting, And Participants: This retrospective case series took place at the Oxford Eye Hospital in Oxford, UK.

Automated classification of normal and Stargardt disease optical coherence tomography images using deep learning.

Purpose: Recent advances in deep learning have seen an increase in its application to automated image analysis in ophthalmology for conditions with a high prevalence. We wanted to identify whether deep learning could be used for the automated classification of optical coherence tomography (OCT) images from patients with Stargardt disease (STGD) using a smaller dataset than traditionally used.

Methods: Sixty participants with STGD and 33 participants with a normal retinal OCT were selected, and a single OCT scan containing the centre of the fovea was selected as the input data.

Same-Day Conventional Different-Day Endoscopic Retrograde Cholangiopancreatography and Laparoscopic Cholecystectomy: A Multi-Center Retrospective Study.

Same-day endoscopic retrograde cholangiopancreatography (ERCP) and cholecystectomy (LC) could potentially reduce hospital length of stay (HLOS). Patients undergoing same-day procedures (N = 164) between 2012 and 2014 were compared with different-day procedures performed in the second half of 2014 (N = 276), in the Kaiser Permanente Southern California database. Both groups had comparable baseline characteristics.

Modernising ophthalmology teaching: introducing a live and interactive video link.

The Health Education Thames Valley (HETV) Ophthalmology training programme holds compulsory weekly afternoon teaching sessions in Oxford. Traditionally, trainees travelled considerable distances to attend this teaching. Commuting is a known stress factor and car use has environmental, monetary and health costs.

Expression of 5α- and 5β-reductase in spinal cord and muscle of birds with different courtship repertoires.

Background: Through the actions of one or more isoforms of the enzyme 5α-reductase in many male reproductive tissues, circulating testosterone (T) undergoes metabolic conversion into 5α-dihydrotestosterone (DHT), which binds to and activates androgen receptors (AR) with greater potency than T. In birds, T is also subject to local inactivation into 5β-DHT by the enzyme 5β-reductase. Male golden-collared manakins perform an androgen-dependent and physically elaborate courtship display, and these birds express androgen receptors in skeletal muscles and spinal cord at levels far greater than those expressed in species with more limited courtship routines, including male zebra finches.

Transscleral cyclophotocoagulation in refractory acute and chronic angle closure glaucoma.

Angle closure glaucoma, both acute and chronic, is a major cause of blindness worldwide. Transscleral cyclophotocoagulation (TSCP) is conventionally undertaken non-urgently in patients with advanced glaucoma and poor visual potential with poor control of intraocular pressure (IOP). We describe a case of a patient with refractory acute angle closure glaucoma and severe pain in whom emergency TSCP was undertaken 12 h after presentation, reducing the IOP from 68 to 10 mm Hg.