Prevalence of IMPG1 and IMPG2 Mutations Leading to Retinitis Pigmentosa or Vitelliform Macular Dystrophy in a Cohort of Patients with Inherited Retinal Dystrophies.

Background/objectives: The interphotoreceptor matrix proteoglycans 1 and 2 (IMPG1 and IMPG2) are two interdependent proteoglycans of the interphotoreceptor matrix (IPM). Mutations in IMPG1 or IMPG2 are linked to retinal diseases such as retinitis pigmentosa (RP) and vitelliform macular dystrophy (VMD), yet the specific mutations responsible for each condition remain undefined. This study identifies mutations in IMPG1 and IMPG2 linked to either RP or VMD.

Expanding the Mutation Spectrum for Inherited Retinal Diseases.

Background/objectives: Inherited retinal diseases (IRDs) represent a diverse group of genetic disorders characterized by degeneration of the retina, leading to visual impairment and blindness. IRDs are heterogeneous, sharing common clinical features that can be difficult to diagnose without knowing the genetic basis of the disease. To improve diagnostic accuracy and advance understanding of disease mechanisms, genetic testing was performed for 103 unrelated patients with an IRD at a single clinical site between 30 August 2022 and 5 February 2024.

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.

Feasibility of Ex Vivo Ligandomics.

We developed ligandomics for the in vivo profiling of vascular ligands in mice, discovering secretogranin III (Scg3) as a novel angiogenic factor that selectively binds to retinal vessels of diabetic but not healthy mice. This discovery led to the development of anti-Scg3 therapy for ocular vasculopathies. However, in vivo ligandomics requires intracardial perfusion to remove unbound phage clones, limiting its use to vascular endothelial cells (ECs).

Clinical Characteristics, Pathogen Distribution, and Factors Affecting Visual Outcomes of Pediatric Post-Traumatic Endophthalmitis.

This study aimed to investigate the etiology, pathogens, antibiotic susceptibility, treatments, and factors influencing the visual prognosis of pediatric post-traumatic endophthalmitis (PTE) to provide valuable insights for clinical diagnosis and treatment. A total of 301 children were included, with 142 (47.2%) cultures yielding positive results.

Lymphangioleiomyomatosis and Pregnancy-Do We Have All the Answers for a Woman Who Desires to Conceive?-Literature Review.

Lymphangioleiomyomatosis (LAM) is a rare, progressive, and poor-prognosis systemic disorder that primarily affects women of reproductive age, with a higher prevalence among individuals of Caucasian origin. However, there are limited reliable data on the prevalence of LAM during pregnancy. The fulminant respiratory clinical presentation that often includes progressive dyspnea on exertion, cough, or hemoptysis, frequently complicated by pneumothorax, and the increased risk of spontaneous abortion due to increased estrogen and progesterone production during gestation, are arguments that most often make the diagnosed woman avoid pregnancy.

Silicone Fiducial Markers Improve Precision in Uveal Melanoma Radiation Therapy.

: Accurate target definition, treatment planning and delivery increases local tumor control for radiotherapy by minimizing collateral damage. To achieve this goal for uveal melanoma (UM), tantalum fiducial markers (TFMs) were previously introduced in proton and photon beam radiotherapy. However, TFMs cause pronounced scattering effects in imaging that make the delineation of small tumors difficult.

Clinical Characteristics and Prognostic Factors Affecting Clinical Outcomes in Cytomegalovirus Retinitis Following Allogeneic Hematopoietic Stem Cell Transplantation.

: This study aimed to evaluate the clinical characteristics and identify the prognostic factors affecting visual outcomes, retinal detachment, and recurrence in cytomegalovirus retinitis (CMVR) patients following allogeneic hematopoietic stem cell transplantation (allo-HSCT). : A retrospective analysis of 54 CMVR patients (84 eyes) who underwent allo-HSCT between 2015 and 2024 was conducted. Ophthalmologic and systemic evaluations were performed.

Exosomes in Ocular Health: Recent Insights into Pathology, Diagnostic Applications and Therapeutic Functions.

Exosomes are extracellular vesicles ranging from 30 to 150 nm in diameter that contain proteins, nucleic acids and other molecules. Produced by virtually all cell types, they travel throughout the body until they reach their target, where they can trigger a wide variety of effects by transferring the molecular cargo to recipient cells. In the context of ocular physiology, exosomes play a very important role in embryological development, the regulation of homeostasis and the immune system, which is crucial for normal vision.

Gut Colonization of Zebrafish Larvae Induces a Dampened Sensorimotor Response.

Cholera is a diarrheal disease prevalent in populations without access to clean water. Cholera is caused by which colonizes the upper small intestine in humans once ingested. A growing number of studies suggest that the gut microbiome composition modulates animal behavior.

A Systematic Review of Micropulse Laser Trabeculoplasty (MLT) in Primary Open-Angle Glaucoma (POAG) Management: Efficacy, Safety, and Future Perspectives.

Background/objectives: Micropulse laser trabeculoplasty (MLT) is gaining attention as a non-invasive treatment option for primary open-angle glaucoma (POAG), offering an alternative to traditional surgeries and medications. This systematic review evaluates the effectiveness, safety, and potential of MLT in glaucoma management.

Methods: This review adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.

Development and Evaluation of Polymethacrylate-Based Ophthalmic Nanofiber Inserts Containing Dual Drug-Loaded Dorzolamide and Timolol: In Vivo Study in Rabbit's Eye.

The aim of the study was to create a nanofiber insert incorporating Timolol (TIM) and Dorzolamide (DOR), targeting the management of glaucoma. This condition encompasses a variety of chronic, advancing ocular disorders typically associated with elevated intraocular pressure (IOP). The insert was made of Eudragite RL100 (EUD) polymer, a biocompatible material with high bioavailability, using the electrospinning method.

The VaMa (Vatavuk and Marić) Artificial Intraocular Lens Capsule: A Novel Device and Method for Reversible Secondary Intraocular Lens Implantation in Patients with Aphakia Without Efficient Capsular Support.

We describe a novel experimental device, the VaMa (Vatavuk and Marić) artificial intraocular lens (IOL) capsule, and a method that enables all IOL types to be implanted in the bag. We present the application of the device and the procedure in patients with aphakia and native capsule damage and without efficient capsular support. The VaMa device and the method facilitate IOL exchange due to refractive errors and, in the case of their invention, the implementation of superior IOLs in the future.

Neovascular Glaucoma as the First Symptom of Bilateral Occlusive Retinal Vasculitis in a 4-Year-Old Girl: A Case Report.

Neovascular glaucoma is a rare and serious condition typically associated with advanced ocular or systemic vascular diseases such as central retinal vein occlusion or diabetic retinopathy. This report describes a unique case of neovascular glaucoma presenting for the first time as an initial symptom of bilateral occlusive retinal vasculitis (ORV) in a generally healthy 4-year-old girl. The patient presented with symptoms of pain and redness in the left eye, accompanied by high intraocular pressure.

A Novel Ensemble Meta-Model for Enhanced Retinal Blood Vessel Segmentation Using Deep Learning Architectures.

Retinal blood vessel segmentation plays an important role in diagnosing retinal diseases such as diabetic retinopathy, glaucoma, and hypertensive retinopathy. Accurate segmentation of blood vessels in retinal images presents a challenging task due to noise, low contrast, and the complex morphology of blood vessel structures. In this study, we propose a novel ensemble learning framework combining four deep learning architectures: U-Net, ResNet50, U-Net with a ResNet50 backbone, and U-Net with a transformer block.

Fetal Hemoglobin as a Predictive Biomarker for Retinopathy of Prematurity: A Prospective Multicenter Cohort Study in Portugal.

Retinopathy of prematurity (ROP) is a leading cause of vision impairment in preterm infants, with its pathogenesis linked to oxygen exposure. Red blood cell (RBC) transfusions, commonly performed in neonatal intensive care units (NICUs), reduce fetal hemoglobin (HbF) fraction, altering oxygen dynamics and potentially contributing to ROP. We aimed to investigate the relationship between RBC transfusions, HbF percentage, and ROP, evaluating HbF as a potential predictive biomarker.

Oncolytic Viruses and Immunotherapy for the Treatment of Uveal Melanoma and Retinoblastoma: The Current Landscape and Novel Advances.

Intraocular malignant tumors are rare; however, they can cause serious life-threatening complications. Uveal melanoma (UM) and retinoblastoma (RB) are the most common intraocular tumors in adults and children, respectively, and come with a great disease burden. For many years, several different treatment modalities for UM and RB have been proposed, with chemotherapy for RB cases and plaque radiation therapy for localized UM as first-line treatment options.

The Diagnosis and Treatment of Branch Retinal Vein Occlusions: An Update.

Branch retinal vein occlusion (BRVO) is a common retinal vascular condition and a significant contributor to vision loss worldwide, particularly in middle-aged and elderly populations. This review synthesizes current knowledge on the epidemiology, pathogenesis, and clinical features of BRVO, alongside recent advancements in diagnostic and therapeutic strategies. BRVO is approximately four times more prevalent than central retinal vein occlusion (CRVO) and often leads to significant vision impairment.

Waste and Greenhouse Gas Emissions Produced from Ophthalmic Surgeries: A Scoping Review.

(1) Background: Healthcare is a major contributor to global greenhouse gas (GHG) emissions, especially within the surgical suite. Ophthalmologists play a role, since they frequently perform high-volume procedures, such as cataract surgery. This review aims to summarize the current literature on surgical waste and GHG emissions in ophthalmology and proposes a framework to standardize future studies.

Multicomponent Dietary Supplementation: Impact on Tear Secretion and Ocular Surface Inflammation in Dry Eye Syndrome Patients.

Dry eye syndrome (DES) is a prevalent ocular condition characterized by tear film instability, inflammation, and discomfort, affecting millions worldwide. DES is related to oxidative stress imbalance and ocular surface inflammation, which are important factors in the development of the condition. Recent studies have demonstrated that fish oil, lutein, and zeaxanthin possess anti-inflammatory and antioxidant properties.

Interventions by Cardiovascular Drugs Against Aircraft Noise-Induced Cardiovascular Oxidative Stress and Damage.

Noise pollution is a known health risk factor and evidence for cardiovascular diseases associated with traffic noise is growing. At least 20% of the European Union's population lives in noise-polluted areas with exposure levels exceeding the recommended limits of the World Health Organization, which is considered unhealthy by the European Environment Agency. This results in the annual loss of 1.

Eicosapentaenoic Acid (EPA) and Docosahexaenoic Acid (DHA): A Targeted Antioxidant Strategy to Counter Oxidative Stress in Retinopathy.

Omega-3 fatty acids are critical components of cell membranes, including those in the retina. Specifically, eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) are the primary omega-3 fatty acids that have been studied for their potential benefits in retinal health, preventing the progression of retinopathy. Several studies have shown that a higher intake of omega-3 fatty acids is associated with a lower risk of developing diabetic retinopathy and age-related macular degeneration (AMD).

Neuroprotective Effect of the Combination of Citicoline and CoQ10 in a Mouse Model of Ocular Hypertension.

Glaucoma is a neurodegenerative disease characterized by the loss of retinal ganglion cells (RGCs), with intraocular pressure (IOP) being its primary risk factor. Despite controlling IOP, the neurodegenerative process often continues. Therefore, substances with neuroprotective, antioxidant, and anti-inflammatory properties could protect against RGC death.

Research Tendency and Frontiers of Multifocal Lenses in Myopic Control in the Past Two Decades: A Bibliometric Analysis.

This study aimed to analyze the research progress on the use of a multifocal lens for myopic control throughout the 21st century, utilizing bibliometric analysis. Publications related to multifocal lenses from 2001 to 2024 were searched on the Web of Science core collection (WoSCC) database. VOSviewer (Version 1.

The Role of the Discharge Planning Team on the Length of Hospital Stay and Readmission in Patients with Neurological Conditions: A Single-Center Retrospective Study.

Emerging evidence highlights the critical role of discharge planning teams in enhancing patient care. However, there is lack of data regarding how the implementation of a discharge planning system influences the length of stay (LOS) in hospital and readmission rates among patients with neurological diseases. We conducted a retrospective analysis to examine the effects of discharge planning application on the LOS and readmission rates for patients admitted under the neurology service in Saudi Arabia.