Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies.

Purpose: Biallelic pathogenic variants in the gene encoding the ATP-binding cassette transporter ABCA4 are the leading cause of irreversible vision loss in inherited retinal dystrophies (IRDs). Interpretation of ABCA4 variants is challenging, due to cis-modifying and hypomorphic variants. We have previously detected 10 missense variants of unknown significance (VUS) in patients with suspected ABCA4-retinal dystrophies (ABCA4-RDs) in Norway.

Exosomes Exposed: Overview Systematic Review on Evidence Versus Expectation in Aesthetic and Regenerative Medicine.

Introduction: Exosomes, diminutive extracellular vesicles, are integral to intercellular communication, harbouring potential for applications in regenerative medicine and aesthetic interventions. The field, however, grapples with the complexities of harmonising exosome characterisation protocols and safeguarding therapeutic integrity.

Methodology: In this scholarly overview, systematic adherence to the Cochrane Collaboration and Preferred Reporting Items for Overviews of Reviews guidelines was observed, scrutinising the congruence of exosome-related therapies with the Minimal Information for Studies of Extracellular Vesicles standards delineated by the International Society for Extracellular Vesicles, alongside criteria set forth by the International Society for Cell Therapy and the International Society for Stem Cell Research.

Smart Contact Lenses in Ophthalmology: Innovations, Applications, and Future Prospects.

Smart contact lenses represent a breakthrough in the intersection of medical science and innovative technology, offering transformative potential in ophthalmology. This review article delves into the technological underpinnings of smart contact lenses, emphasizing the current landscape and advancements in biosensors, power supply, biomaterials, and the transmission of ocular information. This review further applies new innovations to their emerging role in the diagnosis, monitoring, and management of various ocular conditions.

The Surviving, Not Thriving, Photoreceptors in Patients with Stargardt Disease.

Stargardt disease (STGD1), associated with biallelic variants in the gene, is the most common heritable macular dystrophy and is currently untreatable. To identify potential treatment targets, we characterized surviving STGD1 photoreceptors. We used clinical data to identify macular regions with surviving STGD1 photoreceptors.

Verbal Learning and Memory Deficits across Neurological and Neuropsychiatric Disorders: Insights from an ENIGMA Mega Analysis.

Deficits in memory performance have been linked to a wide range of neurological and neuropsychiatric conditions. While many studies have assessed the memory impacts of individual conditions, this study considers a broader perspective by evaluating how memory recall is differentially associated with nine common neuropsychiatric conditions using data drawn from 55 international studies, aggregating 15,883 unique participants aged 15-90. The effects of dementia, mild cognitive impairment, Parkinson's disease, traumatic brain injury, stroke, depression, attention-deficit/hyperactivity disorder (ADHD), schizophrenia, and bipolar disorder on immediate, short-, and long-delay verbal learning and memory (VLM) scores were estimated relative to matched healthy individuals.

Immune-Related Adverse Events Associated with Atezolizumab: Insights from Real-World Pharmacovigilance Data.

The advancement of immuno-oncology has brought about a significant shift in cancer treatment methods, with antibody-based immune checkpoint inhibitors like atezolizumab leading the way in this regard. However, the use of this checkpoint blockade can result in immune-related adverse events due to increased T-cell activity. The full spectrum of these events is not yet completely understood.

Impact of COVID-19 on a real-world treat-and-extend regimen with aflibercept for neovascular age-related macular degeneration.

Objective: To assess the effect of the COVID-19 pandemic on injection intervals among patients treated for neovascular age-related macular degeneration.

Design: Retrospective cohort study.

Participants: Patients treated at a single practice using a treat-and-extend regimen with intravitreal aflibercept between December 2018 and April 2021.

Advancements in APOE and dementia research: Highlights from the 2023 AAIC Advancements: APOE conference.

Introduction: The apolipoprotein E gene (APOE) is an established central player in the pathogenesis of Alzheimer's disease (AD), with distinct apoE isoforms exerting diverse effects. apoE influences not only amyloid-beta and tau pathologies but also lipid and energy metabolism, neuroinflammation, cerebral vascular health, and sex-dependent disease manifestations. Furthermore, ancestral background may significantly impact the link between APOE and AD, underscoring the need for more inclusive research.

Targeting soluble amyloid-beta oligomers with a novel nanobody.

The classical amyloid cascade hypothesis postulates that the aggregation of amyloid plaques and the accumulation of intracellular hyperphosphorylated Tau tangles, together, lead to profound neuronal death. However, emerging research has demonstrated that soluble amyloid-β oligomers (SAβOs) accumulate early, prior to amyloid plaque formation. SAβOs induce memory impairment and disrupt cognitive function independent of amyloid-β plaques, and even in the absence of plaque formation.

Gender, Race, and Ethnicity of US Academic Ophthalmology Faculty and Department Chairs From 1966 to 2021.

Importance: Workforce diversity is integral to optimal function within health care teams.

Objective: To analyze gender, race, and ethnicity trends in rank and leadership among US full-time academic ophthalmology faculty and department chairs between 1966 and 2021.

Design, Setting, And Participants: This cohort study included full-time US academic ophthalmology faculty and department chairs registered in the Association of American Medical Colleges.

Optical coherence tomography homography for detection of retinal displacement: a validation study.

Purpose: Retinal displacement following rhegmatogenous retinal detachment (RRD) has been associated with inferior functional outcomes. Recent evidence using an overlay technique suggests that fundus-autofluorescence underestimates post-RRD repair retinal displacement. This study aims to validate the overlay technique in normal eyes and to determine its sensitivity and specificity at detecting retinal displacement.

Impacts of digital technologies on child and adolescent health: recommendations for safer screen use in educational settings.

The use of screen-based digital technologies (such as computers and digital devices) is increasing for children and adolescents, worldwide. Digital technologies offer benefits, including educational opportunities, social connection and access to health information. Digital fluency has been recognised as an essential skill for future prosperity.

Development of a Patient-Centered Pathway of Care for Retinoblastoma Patients: A Mixed-Methods Pilot Study.

Introduction: Retinoblastoma treatment and follow-up is complex and varies between patients. Pathways of care can enhance the quality of care, patient outcomes, safety, satisfaction, and resource optimization. Developing a pathway of care for retinoblastoma was identified as a top research priority by the retinoblastoma community.

Outcomes of Descemet Stripping Only Without Postoperative Use of Topical Rho-Associated Protein Kinase Inhibitors.

Purpose: Descemet stripping only (DSO) is a promising surgical option for select patients with Fuchs endothelial dystrophy (FED). There is growing support for the use of topical Rho-associated protein kinase inhibitors (ROCKi) to optimize DSO outcomes. However, in many settings, ROCKi are either unavailable or not approved to treat corneal diseases.

Underserved groups could be better considered within population-based eye health surveys: a methodological study.

Objectives: In pursuit of health equity, the World Health Organization has recently called for more extensive monitoring of inequalities in eye health. Population-based eye health surveys can provide this information, but whether underserved groups are considered in the design, implementation, and reporting of surveys is unknown. We conducted a systematic methodological review of surveys published since 2000 to examine how many population-based eye health surveys have considered underserved groups in their design, implementation, or reporting.

Impact of inflammasomes on the ocular surface.

Purpose Of Review: The ocular surface is prone to inflammation due to exposure to environmental irritants and pathogens. Inflammasomes are intracellular, multiprotein complexes that communicate potentially dangerous signals to the immune system. The identification of inflammasomes in various inflammatory ocular surface conditions can aid in the development of therapeutics to treat these chronic inflammatory conditions.

Prominin-1 null Xenopus laevis develop subretinal drusenoid-like deposits, cone-rod dystrophy, and RPE atrophy.

Mutations in the ( gene are associated with inherited, non-syndromic vision loss. Here, we used CRISPR/Cas9 to induce truncating -null mutations in to create a disease model. We then tracked progression of retinal degeneration in these animals from the ages of 6 weeks to 3 years old.

Nutraceuticals for Diabetic Retinopathy: Recent Advances and Novel Delivery Systems.

Diabetic retinopathy (DR) is a major vision-threatening disease among the working-age population worldwide. Present therapeutic strategies such as intravitreal injection of anti-VEGF and laser photocoagulation mainly target proliferative DR. However, there is a need for early effective management in patients with early stage of DR before its progression into the more severe sight-threatening proliferative stage.

IGF-1 Mediated Neuroprotective Effects of Olfactory-Derived Mesenchymal Stem Cells on Auditory Hair Cells.

Importance: Mesenchymal stem cells (MSCs) have the capability of providing ongoing paracrine support to degenerating tissues. Since MSCs can be extracted from a broad range of tissues, their specific surface marker profiles and growth factor secretions can be different. We hypothesized that MSCs derived from different sources might also have different neuroprotective potential.