Zonulopathies as Genetic Disorders of the Extracellular Matrix.

The zonular fibres are formed primarily of fibrillin-1, a large extracellular matrix (ECM) glycoprotein, and also contain other constituents such as LTBP-2, ADAMTSL6, MFAP-2 and EMILIN-1, amongst others. They are critical for sight, holding the crystalline lens in place and being necessary for accommodation. Zonulopathies refer to conditions in which there is a lack or disruption of zonular support to the lens and may clinically be manifested as ectopia lens (EL)-defined as subluxation of the lens outside of the pupillary plane or frank displacement (dislocation) into the vitreous or anterior segment.

Retinal Dystrophy Associated with Homozygous Variants in .

: Neural retina leucine zipper (NRL) is a transcription factor involved in the differentiation of rod photoreceptors. Pathogenic variants in the gene encoding NRL have been associated with autosomal dominant retinitis pigmentosa and autosomal recessive clumped pigmentary retinal degeneration. Only a dozen unrelated families affected by recessive -related retinal dystrophy have been described.

Expanding the Clinical Spectrum of Variants: A Case Report on Non-Syndromic Retinal Dystrophy with a Mild Phenotype.

: Biallelic pathogenic variants in the gene are typically associated with severe, early-onset inherited retinal dystrophies (IRDs) in both syndromic and non-syndromic forms. This study explores the phenotypic variability of non-syndromic IRDs associated with variants, focusing on two siblings with biallelic variants, one of whom exhibits a remarkably mild phenotype, thereby expanding the clinical spectrum. : Whole-exome sequencing (WES) and mRNA analysis were performed to identify and characterize variants in the siblings.

Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic Allele.

Stargardt disease (STGD1) is an autosomal recessive disorder caused by pathogenic variants in that affects the retina and is characterised by progressive central vision loss. The onset of disease manifestations varies from childhood to early adulthood. Whole exome (WES), whole gene, and whole genome sequencing (WGS) were performed for a patient with STGD1.

Risk Factors, Clinical Characteristics, and Antibiotic Susceptibility Patterns of Keratitis: An 18-Year Retrospective Study from a Tertiary Hospital in China.

Our aim was to investigate risk factors, clinical characteristics, and antibiotic susceptibility patterns of cornea-isolated species collected at a tertiary hospital in China over 18 years. This retrospective study reviewed data from 350 patients diagnosed with keratitis at Beijing Tongren Hospital between January 2006 and December 2023, including demographics, risk factors, clinical signs, in vivo confocal microscopy (IVCM) imaging, and antibiotic susceptibility testing. The predominant type was (n = 108, 29.

Targeting of Non-Classical Human Leukocyte Antigens as Novel Therapeutic Strategies in Cancer.

Human leukocyte antigens (HLAs) are essential regulators of immune responses against cancer, with classical HLAs well-documented for their role in tumor recognition and immune surveillance. In recent years, non-classical HLAs-including HLA-E, HLA-F, HLA-G, and HLA-H-have emerged as critical players in the immune landscape of cancer due to their diverse and less conventional functions in immune modulation. These molecules exhibit unique mechanisms that enable tumors to escape immune detection, promote tumor progression, and contribute to therapeutic resistance.

Evaluation of Anti-Angiogenic Therapy Combined with Immunotherapy and Chemotherapy as a Strategy to Treat Locally Advanced and Metastatic Non-Small-Cell Lung Cancer.

Immunotherapy has made recent improvements in disease-free survival (DFS) and/or overall survival (OS) in all stages of non-small-cell lung cancer (NSCLC). Here, we review the tumor microenvironment and its immunosuppressive effects and discuss how anti-angiogenic therapies may potentiate the anti-carcinogenic effects of immunotherapy. We also review all the past literature and discuss strategies of combining anti-angiogenic therapy and immunotherapy +/- chemotherapy and hypothesize how we can use this strategy for non-small-cell lung cancer in metastatic previously untreated/previously treated settings in previously treated EGFR-mutated NSCLC for the upfront treatment of brain metastases prior to radiation therapy and for the incorporation of this strategy into stage III unresectable disease.

Microdissection of Distinct Morphological Regions Within Uveal Melanomas Identifies Novel Drug Targets.

: Uveal melanomas (UMs) are rare but often deadly malignancies that urgently require viable treatment options. UMs often exhibit tumour heterogeneity, with macroscopic and microscopic differences in morphology between different regions of the same tumour. However, to date, the clinical significance of this and how it may help guide personalised therapy have not been realised.

User-Centred Design and Development of a Smartphone Application () for Digital Phenotyping in Ophthalmology.

Background: Visual impairment can significantly impact an individual's daily activities. Patients require regular monitoring, typically occurring within hospital eye services. Capacity constraints have necessitated innovative solutions to improve patient care.

Oxidative Stress, Inflammation and Altered Glucose Metabolism Contribute to the Retinal Phenotype in the Choroideremia Zebrafish.

Reactive oxygen species (ROS) within the retina play a key role in maintaining function and cell survival. However, excessive ROS can lead to oxidative stress, inducing dysregulation of metabolic and inflammatory pathways. The zebrafish models choroideremia (CHM), an X-linked chorioretinal dystrophy, which predominantly affects the photoreceptors, retinal pigment epithelium (RPE), and choroid.

Diagnostic and Management Challenges in Interferon-γ Release Assay-Positive Patient with Sarcoid Panuveitis from a Non-Endemic Tuberculosis Region.

Purpose: To report a case of biopsy-proven sarcoidosis in a patient with panuveitis and a positive interferon-gamma release assay (IGRA) from a non-endemic tuberculosis (TB) country.

Methods: Case report.

Results: A 26-year-old male from the United Arab Emirates (UAE) presented with granulomatous panuveitis characterized by mutton-fat keratic precipitates, anterior chamber and vitreous cells, and retinal vasculitis.

Practice patterns among ophthalmic surgeons in treating concomitant oculoplastic conditions in preoperative period: A questionnaire-based study.

Background: Addressing oculoplastic conditions in the preoperative period ensures both the safety and functional success of any ophthalmic procedure. Some oculoplastic conditions, like nasolacrimal duct obstruction, have been extensively studied, whereas others, like eyelid malposition and thyroid eye disease, have received minimal or no research.

Aim: To investigate the current practice patterns among ophthalmologists while treating concomitant oculoplastic conditions before any subspecialty ophthalmic intervention.

Intricacies during pregnancy with gestational diabetes mellitus.

The study by Cao aimed to identify early second-trimester biomarkers that could predict gestational diabetes mellitus (GDM) development using advanced proteomic techniques, such as Isobaric tags for relative and absolute quantitation isobaric tags for relative and absolute quantitation and liquid chromatography-mass spectrometry liquid chromatography-mass spectrometry. Their analysis revealed 47 differentially expressed proteins in the GDM group, with retinol-binding protein 4 and angiopoietin-like 8 showing significantly elevated serum levels compared to controls. Although these findings are promising, the study is limited by its small sample size ( = 4 per group) and lacks essential details on the reproducibility and reliability of the protein quantification methods used.

Comparative Analysis of Patient-Reported Outcome Measures in Manual Small-Incision Cataract Surgery Versus Phacoemulsification for Brown Cataracts.

Objective The objective of this study is to compare patient-reported outcome measures using the Catquest Questionnaire in patients undergoing phacoemulsification (Phaco) versus manual small-incision cataract surgery (MSICS). Materials and methods This descriptive cross-sectional study included patients aged 40 years and older with cataracts classified as nuclear sclerosis (NS) grade 3 or higher. Demographic details were recorded and a comprehensive ophthalmological exam was done.

"Triple and Plan" (TriPla) regimen for long lasting new generation intravitreal anti-VEGF.

Intravitreal injections of anti-vascular endothelial growth factor (anti-VEGF) medications are the primary treatment for neovascular age-related macular degeneration (nAMD). However, frequent administrations pose significant burdens on patients, healthcare providers, and systems. The treat-and-extend (T&E) regimen, which adjusts treatment intervals based on patient response, aims to reduce injection frequency while maintaining disease control.

ICAM-1 K469E gene polymorphism, genotype-phenotype correlation, and retinopathy in Type 2 diabetes mellitus patients.

Context: The role of genetic factors in the development of diabetic retinopathy is evident from the fact that only 50% of patients with the non-proliferative type of diabetic retinopathy progress to proliferative diabetic retinopathy. Though the K469E polymorphism of the ICAM-1 (Intercellular Adhesion Molecule-1) gene is known to increase the risk of developing Diabetic Retinopathy (DR) among Type 2 diabetic patients, its role in the development of severe DR has not been extensively studied.

Aim: Hence, we aimed to determine the risk due to association of K469E polymorphism of ICAM-1 gene and sight threatening diabetic retinopathy.

Detection of microplastics in pterygium tissue: Implications for environmental hazards.

Purpose: This study aimed to report a case of microplastics (MPs) detection in a pterygium patient's tissue.

Case Report: A pterygium specimen was obtained from the right eye of a 43-year-old woman by surgical removal of a recurred pterygium. The number, morphology, and material type of the MPs in pterygium were identified using Raman microscopy and scanning electron microscopy.

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.

Sexual Health, Pleasure, Justice, and Well-Being in People With Rheumatic and Musculoskeletal Diseases: A Scoping Review Protocol.

Introduction: Sexual health, pleasure, justice (equity in sexual rights and experiences), and well-being are crucial determinants of health and life quality, yet often overlooked in the rheumatic and musculoskeletal diseases (RMD) field. However, this topic has received more attention recently, and there is a need to map the current literature to inform the direction of future studies. Hence, this protocol outlines a scoping review to systematically map existing evidence on sexual health in people with RMD, exploring key themes and identifying evidence gaps across multiple dimensions, including sexual well-being, justice and pleasure.

Colloid-Forming Prodrug-Hydrogel Composite Prolongs Lower Intraocular Pressure in Rodent Eyes after Subconjunctival Injection.

Colloidal drug aggregates (CDAs) are challenging in drug discovery due to their unpredictable formation and interference with screening assays. These limitations are turned into a strategic advantage by leveraging CDAs as a drug delivery platform. This study explores the deliberate formation and stabilization of CDAs for local ocular drug delivery, using a modified smallmolecule glaucoma drug.

Breaking down barriers: Improving accessibility and inclusivity for people with disabilities in veterinary ophthalmology.

Over 25% of people in the United States are affected by physical disabilities, leading to regular interactions between the disabled community and veterinary ophthalmology. However, various barriers hinder individuals with disabilities from accessing care for their pets, working in veterinary clinics, pursuing training as veterinarians and veterinary ophthalmologists, and continuing their careers as disabilities develop. This article explores strategies for the veterinary ophthalmology community to implement positive changes that enhance access and inclusivity within clinics and the profession at practical, institutional, and cultural levels.

Multiparametric grading of glaucoma severity by histopathology can enable post-mortem substratification of disease state.

Neurodegeneration in glaucoma patients is clinically identified through longitudinal assessment of structure-function changes, including intraocular pressure, cup-to-disc ratios from fundus images, and optical coherence tomography imaging of the retinal nerve fiber layer. Use of human post-mortem ocular tissue for basic research is rising in the glaucoma field, yet there are challenges in assessing disease stage and severity, since tissue donations with informed consent are often unaccompanied by detailed pre-mortem clinical information. Further, the interpretation of disease severity based solely on anatomical and morphological assessments by histology can be affected by differences in death-to-preservation time and tissue processing.

Whole-genome sequencing identifies novel loci for keratoconus and facilitates risk stratification in a Han Chinese population.

Background: Keratoconus (KC) is a prevalent corneal condition with a modest genetic basis. Recent studies have reported significant genetic associations in multi-ethnic cohorts. However, the situation in the Chinese population remains unknown.

Periostin-mediated NOTCH1 activation between tumor cells and HSCs crosstalk promotes liver metastasis of small cell lung cancer.

Background: Metastasis is the primary cause of mortality in small cell lung cancer (SCLC), with the liver being a predominant site for distal metastasis. Despite this clinical significance, mechanisms underlying the interaction between SCLC and liver microenvironment, fostering metastasis, remain unclear.

Methods: SCLC patient tissue array, bioinformatics analysis were performed to demonstrate the role of periostin (POSTN) in SCLC progression, metastasis, and prognosis.

Long-term effect of photodynamic therapy on choroidal vascularity index versus choroidal thickness as biomarkers for chronic central serous chorioretinopathy.

Objective: To investigate the long-term impact of half-fluence photodynamic therapy (PDT) on chorioretinal architecture in chronic central serous chorioretinopathy (cCSCR) through novel choroidal vascularity index (CVI) versus previously established subfoveal choroidal thickness (SFCT).

Methods: This post-hoc analysis included prospectively collected swept-source optical coherence tomography (SS-OCT) images of a total of 29 cCSCR and fellow eyes (FE), acquired before, one and 12 months after PDT. CVI, total choroidal area (TCA), luminal area (LA) and stromal area (SA) were calculated using validated binarization technique.