Bifocal retinal degeneration observed on ultra-widefield autofluorescence in some cases of CRX-associated retinopathy.

Background: Variants in CRX are associated with dominantly inherited retinopathy with considerable phenotypic variability. Many patients have central retinal degeneration; in some patients, we have observed an additional focus of degeneration in the nasal retina. This study explores this phenotypic association amongst patients with CRX-associated disease.

Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies.

Importance: Inherited retinal dystrophies (IRDs) present a challenge in clinical diagnostics due to their pronounced genetic heterogeneity. Despite advances in next-generation sequencing (NGS) technologies, a substantial portion of the genetic basis underlying IRDs remains elusive. Addressing this gap seems important for gaining insights into the genetic landscape of IRDs, which may help improve diagnosis and prognosis and develop targeted therapies in the future.

Multifocal Vitelliform Paravascular Retinopathy (MVPR): A New Disorder in the Vitelliform Spectrum.

Purpose: To describe a new retinal phenotype characterized by bilateral, multifocal, subretinal vitelliform lesions along the vascular arcades that we refer to as multifocal vitelliform paravascular retinopathy (MVPR).

Design: Observational case series.

Methods: Multimodal retinal imaging including color fundus photography, fundus autofluorescence and cross sectional and en-face optical coherence tomography was performed to evaluate and characterize the lesions of MVPR.

Investigating Splice Defects in Using Targeted Long-Read Sequencing.

Biallelic variants in are associated with retinitis pigmentosa (RP) and Type 2 Usher Syndrome (USH2), leading to impaired vision and, additionally, hearing loss in the latter. Although the introduction of next-generation sequencing into clinical diagnostics has led to a significant uplift in molecular diagnostic rates, many patients remain molecularly unsolved. It is thought that non-coding variants or variants of uncertain significance contribute significantly to this diagnostic gap.

Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.

Biallelic variants in SUMF1 are associated with multiple sulfatase deficiency (MSD), a rare lysosomal storage disorder typically diagnosed in early infancy or childhood, marked by severe neurodegeneration and early mortality. We present clinical and molecular characterisation of three unrelated patients aged 13 to 58 years with milder clinical manifestations due to SUMF1 disease variants, including two adult patients presenting with apparent non-syndromic retinal dystrophy. Whole genome sequencing identified biallelic SUMF1 variants in all three patients; Patient 1 homozygous for a complex allele c.

Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.

Importance: Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4-associated retinopathy.

Objective: To investigate whether women are overrepresented among individuals with ABCA4-associated retinopathy who are carrying at least 1 mild allele or carrying nonmild alleles.

Data Sources: Literature data, data from 2 European centers, and a new study.

Temporal-to-Nasal Macular Ganglion Cell and Inner Plexiform Layer Ratios in a Large Adult Twin Cohort: Correlations With Age and Heritability.

Purpose: Temporal-to-nasal macular ganglion cell layer thickness ratios are reduced in albinism. We explored similar ratios in a large twin cohort to investigate ranges in healthy adults, correlations with age, and heritability.

Methods: More than 1000 twin pairs from TwinsUK underwent macular optical coherence tomography (OCT) scans.

Cone-driven strong flash electroretinograms in healthy adults: Prevalence of negative waveforms.

Purpose: Both rod and cone-driven signals contribute to the electroretinogram (ERG) elicited by a standard strong flash in the dark. Negative ERGs usually reflect inner retinal dysfunction. However, in diseases where rod photoreceptor function is selectively lost, a negative waveform might represent the response of the dark-adapted cone system.

Herpes Zoster Ophthalmicus: A Devastating Disease Coming Back with Vengeance or Finding Its Nemesis?

Herpes zoster ophthalmicus is a frequent, painful, and debilitating condition caused by the reactivation of the varicella-zoster virus alongside the ophthalmic branch of the trigeminal nerve. Twenty-five percent of adults will develop the disease during their lifetime with the risk increasing to one in two over the age of 50. Herpes zoster ophthalmicus presents with a plethora of ocular manifestations ranging from the characteristic rash in the distribution of the ophthalmic branch of the fifth cranial nerve to more severe keratouveitis, disciform keratitis, and even retinal necrosis.

Learning to Discover Explainable Clinical Features With Minimum Supervision.

Purpose: To compare supervised transfer learning to semisupervised learning for their ability to learn in-depth knowledge with limited data in the optical coherence tomography (OCT) domain.

Methods: Transfer learning with EfficientNet-B4 and semisupervised learning with SimCLR are used in this work. The largest public OCT dataset, consisting of 108,312 images and four categories (choroidal neovascularization, diabetic macular edema, drusen, and normal) is used.

Cost and time resourcing for ophthalmic simulation in the UK: a Royal College of Ophthalmologists' National Survey of regional Simulation Leads in 2021.

Introduction: Ophthalmic simulation is cost-effective in complication prevention. However, there is no consistent resource allocation to provide the necessary time and finance to sustain such activities. We wished to identify the current support for the regional Simulation Leads in the UK.

Automated feature-based grading and progression analysis of diabetic retinopathy.

Background: In diabetic retinopathy (DR) screening programmes feature-based grading guidelines are used by human graders. However, recent deep learning approaches have focused on end to end learning, based on labelled data at the whole image level. Most predictions from such software offer a direct grading output without information about the retinal features responsible for the grade.

Transcutaneous anaesthetic nano-enabled hydrogels for eyelid surgery.

Local anaesthetics are administered as a diffuse superficial slow injection in blepharoplasty. Current transcutaneous local anaesthetic formulations are not licensed for use on the face due to safety concerns. Here we report for the first time the permeation of local anaesthetics (lidocaine, bupivacaine loaded SNEDDS and their hydrogels) across human eyelid and mouse skin as a novel and ocular safe formulation for eyelid surgery.

Operating Room Performance Improves after Proficiency-Based Virtual Reality Cataract Surgery Training.

Purpose: To investigate the effect of virtual reality proficiency-based training on actual cataract surgery performance. The secondary purpose of the study was to define which surgeons benefit from virtual reality training.

Design: Multicenter masked clinical trial.

Man versus Machine: Software Training for Surgeons-An Objective Evaluation of Human and Computer-Based Training Tools for Cataract Surgical Performance.

This study aimed to address two queries: firstly, the relationship between two cataract surgical feedback tools for training, one human and one software based, and, secondly, evaluating microscope control during phacoemulsification using the software. Videos of surgeons with varying experience were enrolled and independently scored with the validated PhacoTrack motion capture software and the Objective Structured Assessment of Cataract Surgical Skill (OSACCS) human scoring tool. Microscope centration and path length travelled were also evaluated with the PhacoTrack software.

High correlation between performance on a virtual-reality simulator and real-life cataract surgery.

Purpose: To investigate the correlation in performance of cataract surgery between a virtual-reality simulator and real-life surgery using two objective assessment tools with evidence of validity.

Methods: Cataract surgeons with varying levels of experience were included in the study. All participants performed and videorecorded three standard cataract surgeries before completing a proficiency-based test on the EyeSi virtual-reality simulator.

Developing transcutaneous nanoenabled anaesthetics for eyelid surgery.

Purpose: Local anaesthesia in eyelid surgery carries inherent risks, which has spurned ongoing investigation to identify needleless alternatives. Nanomedicines (particles ranging between 10 nm and 1000 nm in size) have shown promise in the transcutaneous delivery of certain drugs. In this study, we explore the feasibility of nanoenabled lidocaine delivery across an artificial skin analogue.