Genotype-Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights.

Corneal dystrophies are a group of predominantly rare inherited disorders. They are by definition bilateral, relatively symmetrical, and without systemic involvement, affecting corneal transparency and/or refraction. Traditional classification of corneal dystrophies is based on slit-lamp appearance, affected corneal layer and histological features.

Retinoid X receptor agonist 9CDHRA mitigates retinal ganglion cell apoptosis and neuroinflammation in a mouse model of glaucoma.

Glaucoma, a leading cause of irreversible blindness, is characterized by the progressive loss of retinal ganglion cells (RGCs) and optic nerve damage, often associated with elevated intraocular pressure (IOP). Retinoid X receptors (RXRs) are ligand-activated transcription factors crucial for neuroprotection, as they regulate gene expression to promote neuronal survival via several biochemical networks and reduce neuroinflammation. This study investigated the therapeutic potential of 9-cis-13,14-dihydroretinoic acid (9CDHRA), an endogenous retinoid RXR agonist, in mitigating RGC degeneration in a high-IOP-induced experimental model of glaucoma.

Treat-And-Extend Versus Pro Re Nata Regimen of Intravitreal Conbercept Injection for Neovascular Age-Related Macular Degeneration: Results from COCOA, a Prospective, Open-Label, Multicenter, Randomized Phase IV Clinical Trial.

Purpose: To evaluate and contrast the effectiveness and safety of two conbercept treatment protocols-a three-dose treat-and-extend (3+T&E) regimen and a three-dose pro re nata (3+PRN) regimen-in Chinese patients diagnosed with neovascular age-related macular degeneration (nAMD).

Methods: Eligible patients, who had not undergone anti-VEGF intraocular injections within 3 months prior to enrollment, were randomly assigned to either the 3+T&E or 3+PRN regimen. The 3+T&E group received at least three monthly injections, with subsequent visit intervals extended based on disease activity assessment.

Assessment of compliance with tetracycline eye ointment treatment to accelerate the elimination of trachoma in Yobe State, Nigeria.

Background: Trachoma, a neglected tropical disease, remains a significant public health concern in many regions, particularly in sub-Saharan Africa and in Yobe State, Nigeria. One approach for elimination involves administering tetracycline eye ointment (TEO) to children <6 months of age as part of annual mass drug administration (MDA), aligning with the World Health Organization's 'A' component of the SAFE (Surgery, Antibiotics, Facial hygiene and Environmental sanitation) strategy for elimination of trachoma as a public health problem. However, suboptimal compliance rates in affected populations pose challenges, potentially serving as a reservoir for reinfection and hindering progress toward trachoma elimination.

Wnt5a regulates the expression of developmental genes in the adult retina following optic nerve crush injury.

Canonical and non-canonical Wnt signaling pathways are well-characterized regulators of retinal development. Wnt signaling also promotes neuroprotection and regeneration in adult tissues, including retinal ganglion cell (RGC) survival and axonal regrowth after optic nerve injury. However, it is unknown whether Wnt-dependent neuroprotection after injury in the adult CNS is associated with altered expression of developmental genes.

Single-cell RNA-sequencing reveals cellular heterogeneity and immune microenvironment characteristics between ocular adnexal mucosa-associated lymphoid lymphoma and IgG4-related ophthalmic disease.

Introduction: The molecular pathogenesis of ocular adnexal mucosa-associated lymphoid tissue (MALT) lymphoma and IgG4-related ophthalmic disease (IgG4-ROD) remains incompletely understood. Differentiating between the two diseases is vital given that the diagnostic evaluation and treatment approaches can vary significantly; this difficulty in distinction is exacerbated by the absence of specific biomarkers. This study aimed to investigate the differences between these two diseases based on their cellular composition, transcriptional heterogeneity, and the immune microenvironment using single-cell RNA transcriptional sequencing (scRNA-seq) technology.

Lateral Retrocanthal Orbital Decompression for Children With Thyroid Eye Disease: A Canthus-sparing Approach.

Thyroid eye disease (TED) is one of the most common causes of proptosis in children. The traditional surgical approach to manage disfiguring proptosis associated with TED is orbital decompression surgery, which is often accomplished via lateral wall decompression through canthotomy and cantholysis. However, this technique can result in lateral canthus scarring and migration.

Unsettled hearing, responsible listening: encounters with voice after forced migration.

In line with increasing forced migrations around the globe, there is also a growing need for ethical encounters between researchers and those forcefully displaced. This article focuses on responsible Listening, defined as the ethically motivated effort of researchers to conduct communication at eye level. However, findings have shown that listeners (e.

Acute branch retinal arteriolar occlusion after intravascular ultrasound: a case report.

Intravascular ultrasound is mainly used for the diagnosis and interventional treatment of coronary heart disease. Retinal artery occlusion caused by intravascular ultrasound is very rare. We report a case of acute branch retinal arteriolar occlusion after intravascular ultrasound examination of the coronary artery in a patient with coronary heart disease.

Cell-Type Specific Variation in X-Chromosome Dosage Compensation in Drosophila.

Male require dosage compensation to equalize X-linked gene expression with autosomal expression. Leveraging the single-nucleus Fly Cell Atlas (FCA) dataset, which includes 388,918 nuclei across diverse tissues, we investigated cell-type-specific patterns of X-chromosome dosage compensation. Our analysis identified a continuum of cell groups based on their X-to-autosome (X/A) expression ratios ranging from anti-compensated to effectively compensated and overcompensated.

Binocular vHIT in Healthy Participants: An Optimized Strategy.

Objective: The objectives of this study were to observe the differences between the left and right eyes in healthy individuals during binocular video head impulse testing (vHIT) and to identify the optimal eye for a more precise evaluation of the vestibulo-ocular reflex (VOR) gain.

Materials And Methods: This is a prospective two-center study involving 41 healthy individuals. All participants included in the study underwent binocular vHIT, which was performed by experienced technicians.

Regional variations in corneal oedema during open-eye fenestrated scleral lens wear.

Purpose: To compare the magnitude of central, mid-peripheral and peripheral stromal corneal oedema induced during short-term fenestrated and non-fenestrated scleral lens wear.

Methods: Nine healthy participants wore a non-fenestrated and a fenestrated (0.3-mm diameter limbal fenestration) scleral lens (KATT™, Capricornia Contact Lenses), hexafocon B material (Dk 141 × 10 cm O(cm)/[(s) (cm) (mmHg)]) in one eye under open-eye conditions for 90 min on two separate days.

Cost-effectiveness analysis of bispecific antibody faricimab for treatment of neovascular age-related macular degeneration and diabetic macular edema in Japan.

ObjectiveTo assess the cost-effectiveness of faricimab versus other anti-vascular endothelial growth factor (anti-VEGF) drugs for treatment of neovascular age-related macular degeneration (nAMD) and diabetic macular edema (DME) in Japan, while considering societal burden associated with treatment.MethodsA Markov model for cost-effectiveness analysis of anti-VEGF treatment in patients with nAMD and DME was applied based on cost and utility value data from Japan. Faricimab administered through a treat-and-extend (T&E) regimen was compared with ranibizumab administered pro re nata (PRN) and T&E, aflibercept T&E, brolucizumab T&E, and best supportive care (BSC).

Core genes and immune dysregulation in primary open-angle glaucoma: A molecular insight.

BackgroundPrimary open-angle glaucoma (POAG) is a chronic, progressive and irreversible eye disease. Currently, there is no effective way to prevent optic nerve damage.ObjectiveThis study explored POAG gene markers to identify high-risk groups at an early stage and to find new effective therapeutic targets.

Hypnogram and Hypnodensity Analysis of REM Sleep Behaviour Disorder Using Both EEG and HRV-Based Sleep Staging Models.

Rapid-eye-movement (REM) sleep behaviour disorder (RBD) is a primary sleep disorder strongly associated with Parkinson's disease. Assessing sleep structure in RBD is important for understanding the underlying pathophysiology and developing diagnostic methods. However, the performance of automated sleep stage classification (ASSC) models is considered suboptimal in RBD, for both models utilising neurological signals ("ExG": EEG, EOG, and chin EMG) and heart rate variability combined with body movements (HRVm).

Eye-sparing treatment for sinonasal tumors invading the orbit in the era of personalized therapy.

Few studies investigated the eye-sparing treatment in patients with sinonasal carcinomas (SNCs) from the perspective of modern precision radiation, and the eye-sparing treatment in patients with grade III orbital invasion was rarely discussed. This retrospective study included patients with primary SNCs who accepted eye-sparing treatment from October 2000 to June 2022 at a single institution. Patients' clinical information and follow-up data (including visual data) were obtained.

Relationships Between Diet and Geographic Atrophy Progression in the Age-Related Eye Diseases Studies 1 and 2.

: The objective of this study was to analyze the relationships between diet and geographic atrophy (GA) progression, both area-based and proximity-based, for dietary pattern, components, and micronutrients. : In the Age-Related Eye Diseases Study (AREDS) and AREDS2, an Alternative Mediterranean Diet Index (aMedi), its nine components, and individual micronutrient intakes were calculated. Mixed-model regression was performed for square root GA area, GA foveal proximity, and acuity.

Efficacy and Safety of Accelerated Transepithelial Corneal Crosslinking in Non-Pediatric Patients with Progressive Keratoconus: Insights from a Retrospective Cohort Study.

Background/objectives: Transepithelial accelerated corneal crosslinking (TE-ACXL) is a minimally invasive approach for stabilizing progressive keratoconus while preserving the corneal epithelium. This study aims to evaluate changes in visual acuity, refractive error, and corneal parameters before and six months after TE-ACXL.

Methods: A retrospective analysis was conducted on 30 eyes from 20 patients who underwent TE-ACXL between May 2021 and June 2023.

Correction: Han et al. Genotypic Homogeneity in Distinctive Transforming Growth Factor-Beta-Induced (TGFBI) Protein Phenotypes. 2021, , 1230.

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Sodium Iodate-Induced Ferroptosis in Photoreceptor-Derived 661W Cells Through the Depletion of GSH.

Oxidative stress-induced photoreceptor cell death is closely associated with the etiology of age-related macular degeneration (AMD), and sodium iodate (SI) has been widely used as an oxidant stimulus in AMD models to induce retinal pigment epithelium (RPE) and photoreceptor cell death. However, the mechanism underlying SI-induced photoreceptor cell death remains controversial and unclear. In this study, we elucidate that ferroptosis is a critical form of cell death induced by SI in photoreceptor-derived 661W cells.

Fighting Bleb Fibrosis After Glaucoma Surgery: Updated Focus on Key Players and Novel Targets for Therapy.

Filtration bleb (FB) fibrosis represents the primary risk factor for glaucoma filtration surgery (GFS) failure. We reviewed the most recent literature on post-GFS fibrosis in humans, focusing on novel molecular pathways and antifibrotic treatments. Three main literature searches were conducted.

Link Between Metabolic Syndrome, Inflammation, and Eye Diseases.

Metabolic syndrome (MetS)-a cluster of conditions including obesity, hypertension, dyslipidemia, and insulin resistance-is increasingly recognized as a key risk factor for the development of various eye diseases. The metabolic dysfunctions associated with this syndrome contribute to vascular and neurodegenerative damage within the eye, influencing disease onset and progression. Understanding these links highlights the importance of early diagnosis and management of metabolic syndrome to prevent vision loss and improve ocular health outcomes.

Citrulline Plus Arginine Induces an Angiogenic Response and Increases Permeability in Retinal Endothelial Cells via Nitric Oxide Production.

We previously observed elevated plasma levels of citrulline and arginine in diabetic retinopathy patients compared to diabetic controls. We tested our hypothesis that citrulline plus arginine induces angiogenesis and increases permeability in retinal endothelial cells. Human retinal microvascular endothelial cells (HRMECs) were treated with citrulline, arginine, or citrulline + arginine, and angiogenesis was measured with cell proliferation, migration, and tube formation assays.

Tear Sampling and Biomarker Discovery: A Robust Workflow for Routine Clinical Applications Using UHPLC-MS/MS and Schirmer Strips.

Human tear analysis is gaining increasing attention as a non-invasive tool for several applications such as proteomics and biomarker identification in various diseases, including cancer. The choice of the correct sampling method determines the result of the analysis. In this study, we developed and validated a robust method for tear protein quantification using ultra-high-performance liquid chromatography coupled with tandem mass spectrometry (UHPLC-MS/MS).