Examining the Time to Diagnosis in Idiopathic Intracranial Hypertension Presentations in a Specialist Eye Emergency Department.

Idiopathic intracranial hypertension (IIH) is a neurological disorder characterized by chronic headaches, cognitive difficulties, reduced quality of life, and rarely irreversible visual loss. Community diagnosis is often challenging due to unfamiliarity with current guidelines and a lack of clinical experience, leading to misdiagnosis and treatment delays, which can negatively impact visual recovery and quality of life. Our study examined the time to diagnosis and investigated the barriers to timely diagnosis in adults with newly diagnosed IIH.

Novel Splice-Altering Variants in the and Genes Causative of X-Linked Choroideremia and Cone Dystrophy.

Background: An estimated 10-15% of all genetic diseases are attributable to variants in noncanonical splice sites, auxiliary splice sites and deep-intronic variants. Most of these unstudied variants are classified as variants of uncertain significance (VUS), which are not clinically actionable. This study investigated two novel splice-altering variants, NM_000390.

A systemic review of the utility of antituberculosis therapy for presumed tuberculous uveitis.

Background: Uveitis presumed to be secondary to Mycobacterium tuberculosis is a rare but potentially blinding condition. Difficulty in making an accurate diagnosis and the low incidence of TB uveitis (TBU) contribute to the lack of evidence regarding the best management of this condition. This systematic review aims to analyse existing research to provide a summary of the literature regarding the utility of TB therapy for the management of TBU.

Associations of Retinal Microvascular Density and Fractal Dimension with Glaucoma: A Prospective Study from UK Biobank.

Objective: To explore the association between retinal microvascular parameters and glaucoma.

Design: Prospective study.

Subjects: The UK Biobank subjects with fundus images and without a history of glaucoma.

Extent of genetic and epigenetic factor reprogramming via a single viral vector construct in deaf adult mice.

In the adult mammalian cochlea, hair cell loss is irreversible and causes deafness. The basic helix-loop transcription factor Atoh1 is essential for normal hair cell development in the embryonic ear. Over-expression of Atoh1 in the adult cochlea by gene therapy can convert supporting cells (cells that underlie hair cells) into a hair cell lineage.

Meibomian gland alterations in allergic conjunctivitis: insights from a novel quantitative analysis algorithm.

Purpose: To investigate the changes in meibomian gland (MG) structure in allergic conjunctivitis (AC) patients using an intelligent quantitative analysis algorithm and to explore the relationship between these changes and clinical parameters.

Methods: A total of 252 eyes from patients with AC and 200 eyes from normal controls were examined. Infrared meibography was performed using the non-contact mode of the Keratograph 5M.

Family and genetic counseling in Leber hereditary optic neuropathy.

Aim: Leber hereditary optic neuropathy (LHON) predominantly manifests during adolescence or young adulthood, resulting in sudden and profound vision loss in individuals who previously had normal vision. This abrupt change significantly impacts daily life, necessitating emotional support, counseling and low-vision rehabilitative services to help affected individuals cope with the shock and adapt to their residual vision. The psychosocial burden of dealing with vision loss extends beyond the individuals directly affected by LHON, affecting matrilineal relatives who face the dual challenges of grieving for their loved one's vision loss and managing their own uncertainty about potential vision loss and its familial implications.

Comparing Rotational Stability of Clareon and Eyhance Toric IOLs in a Real-World Setting.

Background: The Eyhance Toric intraocular lens (IOL) builds upon the Tecnis Toric platform, initially associated with considerable post-operative rotational instability. Version 2, the Eyhance Toric IOL has been modified to enhance rotational stability. This study evaluates the post-operative rotational stability of the Eyhance Toric IOL compared to the Clareon Toric IOL, recognized for its stable performance.

Consensus and guidelines on diagnosis and management of polypoidal choroidal vasculopathy (PCV) from the Asia-Pacific Vitreo-retina Society (APVRS).

A panel of 21 international experts are formed by the Asia-Pacific Vitreo-retina Society to work out the consensus and guidelines on polypoidal choroidal vasculopathy (PCV). PCV is a common subtype of neovascular age-related macular degeneration and is more prevalent in Asian populations. Recent advancement in imaging technology allows greater understanding of the disease process of PCV.

Photoreceptor metabolic window unveils eye-body interactions.

Photoreceptors are specialized neurons at the core of the retina's functionality, with optical accessibility and exceptional sensitivity to systemic metabolic stresses. Here we show the ability of risk-free, in vivo photoreceptor assessment as a window into systemic health and identify shared metabolic underpinnings of photoreceptor degeneration and multisystem health outcomes. A thinner photoreceptor layer thickness is significantly associated with an increased risk of future mortality and 13 multisystem diseases, while systematic analyses of circulating metabolomics enable the identification of 109 photoreceptor-related metabolites, which in turn elevate or reduce the risk of these health outcomes.

Longitudinal visual outcomes in idiopathic intracranial hypertension: the role of early prognostic indicators and risk stratification in disease management.

Background: Idiopathic intracranial hypertension (IIH) is increasingly prevalent, yet longitudinal outcome data are scarce. This study aimed to characterise demographic and longitudinal clinical changes in a cohort of patients with IIH.

Methods: Retrospective cohort analysis on adult patients diagnosed with IIH (Friedman criteria) enrolled in the neuro-ophthalmology database (NODE) across two tertiary centres.

Longitudinal Assessment of Structural and Functional Changes in Rod-cone Dystrophy: A 10-year Follow-up Study.

Purpose: Emerging clinical trials for inherited retinal disease (IRD) require an understanding of long-term progression. This longitudinal study investigated the genetic diagnosis and change in retinal structure and function over 10 years in rod-cone dystrophies (RCDs).

Design: Longitudinal observational follow-up study.

Retinal vascular fingerprints predict incident stroke: findings from the UK Biobank cohort study.

Objective: To investigate the associations between a comprehensive set of retinal vascular parameters and incident stroke to unveil new associations and explore its predictive power for stroke risk.

Methods: Retinal vascular parameters were extracted from the UK Biobank fundus images using the Retina-based Microvascular Health Assessment System. We used Cox regression analysis, adjusted for traditional risk factors, to examine the associations, with false discovery rate adjustment for multiple comparisons.

Current advances in multimodal imaging in geographic atrophy secondary to age-related macular degeneration: A review.

As we move toward an era in which there will be treatment options for geographic atrophy (GA) secondary to age-related macular degeneration, the need to accurately understand and interpret multimodal imaging (MMI) for the condition is paramount. This review discusses the evolution of MMI in GA and how it has led to a greater understanding of different phenotypes and risk factors for progression. These advancements have allowed novel imaging biomarkers to be used as end points in large interventional studies exploring new therapies for GA treatment.

Interventions used to reduce infectious aerosol concentrations in hospitals-a review.

Background: The COVID-19 pandemic highlighted the need for improved infectious aerosol concentrations through interventions that reduce the transmission of airborne infections. The aims of this review were to map the existing literature on interventions used to improve infectious aerosol concentrations in hospitals and understand challenges in their implementation.

Methods: We reviewed peer-reviewed articles identified on three databases, MEDLINE, Web of Science, and the Cochrane Library from inception to July 2024.

Blink completeness and rate in dry eye disease: An investigator-masked, prospective registry-based, cross-sectional, prognostic study.

Purpose: To investigate the prognostic ability of blink rate and the proportion of incomplete blinking to predict dry eye disease diagnosis, as defined by the TFOS DEWS II criteria.

Methods: A total of 453 community residents (282 females, 171 males; mean ± SD age, 37 ± 19 years) were recruited in an investigator-masked, prospective registry-based, cross-sectional, prognostic study. Dry eye symptomology, tear film quality, and ocular surface characteristics were assessed in a single clinical session, and blink parameters evaluated by an independent masked observer.

Medical Management of the Near-Narrowed Internal Auditory Canal Pathology in the Adult Population: A Preliminary Study.

: Objective: To discuss therapeutic outcomes in patients with symptomatic near-narrow internal auditory canal (NNIAC). : We retrospectively analyzed the records of 26 symptomatic patients diagnosed with NNIAC, who had been treated with anti-epileptic drugs. In addition to clinical and radiological data, we recorded I-III latencies of auditory brainstem responses prior to and after medical therapy.

Amplitude and Phase Changes in Electrocochleographic Real-Time Recordings During Cochlear Implantation and Its Relation to Pre- and Postoperative Hearing.

Background: The aim of this study was to relate response patterns of electrocochleography (ECochG) recordings during cochlear implantation to pre- and postoperative hearing.

Methods: Thirty subjects with either flat (FA, n = 9) or sloping (SA, n = 21) audiograms before cochlear implantation were prospectively included. Real-time ECochG recordings were conducted via the cochlear implant.

Improving Real-Time Feedback During Cochlear Implantation: The Auditory Nerve Neurophonic/Cochlear Microphonic Ratio.

Objectives: Real-time monitoring of cochlear function to predict the loss of residual hearing after cochlear implantation is now possible. Current approaches monitor the cochlear microphonic (CM) during implantation from the electrode at the tip of the implant. A drop in CM response of >30% is associated with poorer hearing outcomes.

Focal Scleral Nodules: Retrospective Case Series and Novel Insight.

Purpose: The objective of this study was to add to the limited literature of Focal Scleral Nodule (FSN).

Methods: This study was a single-centre, retrospective, observational case series performed at Manchester Royal Eye Hospital (United Kingdom). Nineteen eyes from nineteen patients over a thirteen year period (January 2011 to January 2024) were included.

Phosphoribosyl pyrophosphate synthetase 1 () associated retinal degeneration: an international study.

Introduction: Phosphoribosyl pyrophosphate synthetase 1 () is an X-linked gene critical for nucleotide metabolism. Pathogenic variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy.