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.

Factors associated with phenoconversion of idiopathic rapid eye movement sleep behavior disorder: a prospective study.

This study explores the effect of risk factors on the progression of idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) to α-synucleinopathies in a Chinese cohort. Patients with iRBD were enrolled and assessed for environmental factors and lifestyle using standardized structured questionnaires at baseline. All patients were prospectively followed for phenoconversion monitoring.

qPRF: A system to accelerate population receptive field modeling.

BOLD response can be fitted using the population receptive field (PRF) model to reveal how visual input is represented on the cortex (Dumoulin and Wandell, 2008). Fitting the PRF model costs considerable time, often requiring days to analyze BOLD signals for a small cohort of subjects. We introduce the qPRF ("quick PRF"), a system for accelerated PRF modeling that reduced the computation time by a factor ¿1,000 without losing goodness-of-fit when compared to another widely available PRF modeling package (Kay et al.

Development and psychometric properties of a quality of life assessment tool for Chinese patients undergoing intravitreal injection (IVI-QoL-23).

Purpose: To develop and assess the psychometric properties of a quality of life (QoL) assessment tool for Chinese patients treated with intravitreal injection (IVI) of anti-vascular endothelial growth factor (anti-VEGF).

Methods: We developed a 31-item IVI-QoL questionnaire using semi- structured patient interviews and expert panel consultation, drawing on a study of the literature. After pretesting on a subset of patients undergoing IVI, the questionnaire was pared down to 23 items.

Trends in Demographic, Clinical, Socioeconomic, and Facility-Specific Factors Linked to Eyelid Melanoma Survival: A National Cancer Database Analysis.

Purpose: This study aimed to analyze demographic, clinical, socioeconomic, and facility-specific factors affecting the survival outcomes of patients diagnosed with eyelid melanoma (EM) between 2004 and 2017 using data from the National Cancer Database.

Methods: Cases of EM diagnosed between 2004 and 2017 were identified using the National Cancer Database. Patient demographic data, tumor stage (American Joint Committee on Cancer TNM classification), treatment modalities, and socioeconomic variables were collected.

Compartmental analysis of retinal vascular parameters and thickness in myopic eyes using SS-OCTA.

Background: This study aimed to comprehensively explore the thickness and topographic distributions of retinal vessel alterations of different myopic eyes by using swept-source OCT angiography (SS-OCTA).

Methods: One hundred myopes were included in this observational cross-sectional study. All participants underwent a series of ocular examinations of biometrical parameters, including spherical equivalent refraction (SER), axial length (AL), intraocular pressure (IOP), curvature radius (CR), and others.

Defining conceptual artefacts to manage and design simplicities in complex adaptive systems.

The concept of Simplexity has emerged several times in many discourses within different scientific domains: it somehow refers to the intertwined nature of Simplicity and Complexity. To the eye of the scientist beholder, any of these contributions renders different facets. None of those is negligible nor seems to be superior.

Acceleration of spontaneous visual recovery by voluntary physical exercise in adolescent amblyopic rats.

Abnormal visual experience during development resulting from an imbalance in the activity of the two eyes can lead to permanent severe visual deficits, a pathology called amblyopia (lazy eye). While this condition is extremely difficult to treat in adults, current interventions can elicit significant amounts of visual recovery when performed in juveniles before the end of the critical period, even if the achievable results can be unsatisfactory due to the progressive decline in visual cortical plasticity. Similarly to human subjects, rodents becoming amblyopic due to early visual deprivation can display spontaneous functional recovery if the deprivation ends within the critical period time window.

Deep Learning to Predict the Future Growth of Geographic Atrophy from Fundus Autofluorescence.

Purpose: The region of growth (ROG) of geographic atrophy (GA) throughout the macular area has an impact on visual outcomes. Here, we developed multiple deep learning models to predict the 1-year ROG of GA lesions using fundus autofluorescence (FAF) images.

Design: In this retrospective analysis, 3 types of models were developed using FAF images collected 6 months after baseline to predict the GA lesion area (segmented lesion mask) at 1.

Retinoblastoma with and without Extraocular Tumor Extension: A Global Comparative Study of 3435 Patients.

Purpose: To study the treatment and outcomes of children with retinoblastoma (RB) with extraocular tumor extension (RB-EOE) and compare them with RB without extraocular tumor extension (RB-w/o-EOE).

Design: Multicenter intercontinental collaborative prospective study from 2017 to 2020. RB-EOE cases included those with overt orbital tumor extension in treatment-naive patients.

3D Finite Element Modeling of Femtosecond Laser Trabeculotomy.

Objectives: Femtosecond laser image guided high precision trabeculotomy (FLigHT) is a novel open-angle glaucoma treatment. The procedure non-invasively creates aqueous humor (AH) drainage channel from the anterior chamber (AC) to Schlemm's canal (SC) through the trabecular meshwork (TM) to decrease intraocular pressure (IOP). The purpose of this study was to develop a 3D finite element model (FEM) of the FLigHT procedure and to simulate clinical results for different drainage channel cross-sectional areas.

Metabolites in Serum Small Extracellular Vesicles Instead of Small Extracellular Vesicles-depleted Serum Have Better Diagnostic Value for Cancers at Early Stage.

Serum is one of the most commonly used biofluids for biomarker exploration. Some studies examine serum directly, while others focus on specific components like small extracellular vesicles (sEVs), which are lipid-bilayer encapsulated particles carrying a variety of molecular cargos. However, the diagnostic value of serum sEVs versus sEVs-depleted fractions (EV-free serum) for early cancer detection are unclear.

Physiological change in ganglion cell inner plexiform layer and nerve fibre layer thickness over six years.

Background: To evaluate the 6-year physiological rates-of-change in ganglion cell inner plexiform layer (GCIPL) and retinal nerve fibre layer (RNFL) thickness measured with optical coherence tomography.

Methods: We included 2202 out of 2661 subjects from the population-based Singapore Chinese Eye Study who returned for follow-up 6 years after baseline examination (follow-up rate 87.7%).

Systematic review: REM sleep, dysphoric dreams and nightmares as transdiagnostic features of psychiatric disorders with emotion dysregulation - Clinical implications.

Background: Fragmented rapid eye movement (REM) sleep disrupts the overnight resolution of emotional distress, a process crucial for emotion regulation. Emotion dysregulation, which is common across psychiatric disorders, is often associated with sleep disturbances. This systematic review explores how REM sleep and nightmares affect emotion processing and regulation in individuals with psychiatric disorders where emotion dysregulation is a key concern, suggesting novel sleep-related treatment pathways.

Ciliary muscle traction during accommodation is able to induce optic nerve head deformation.

Objectives: To use finite element (FE) modeling and in vivo optical coherence tomography (OCT) imaging to explore the effect of ciliary muscle traction on optic nerve head (ONH) deformation during accommodation.

Methods: We developed a FE model to mimic the ciliary muscle traction during accommodation, and varied the stiffness of the sclera, choroid, Bruch's membrane (BM), prelaminar neural tissue and lamina cribrosa (LC) to assess their effects on accommodation-induced ONH strains. To validate the FE model, OCT images of the right eyes' ONHs from 20 subjects (25 ± 1.

Face pareidolia minimally engages macaque face selective neurons.

The macaque cerebral cortex contains concentrations of neurons that prefer faces over inanimate objects. Although these so-called face patches are thought to be specialized for the analysis of facial signals, their exact tuning properties remain unclear. For example, what happens when an object by chance resembles a face? Everyday objects can sometimes, through the accidental positioning of their internal components, appear as faces.

Spatial frequency of environments and myopia: A systematic review on associated evidence and underlying mechanisms.

Purpose: Previous animal studies have found a relationship between spatial frequency and myopia. New research in humans suggest that reduced high spatial content of the visual environment may be a contributing factor for myopia development. This study aims to review the literature and elucidate the potential biological mechanisms linking spatial frequency and myopia.

Ionizable polymeric micelles (IPMs) for efficient siRNA delivery.

Lipid nanoparticles (LNPs) are widely used for nucleic acid delivery but face challenges like limited targeting and accelerated blood clearance (ABC) effect. We design three ionizable oligomers (IOs) that, with polylactide-polyethylene glycol (PLA-PEG), form a potential siRNA delivery system, named Ionizable Polymeric Micelles (IPMs). The siRNA encapsulated IPMs escape from lysosomes upon cellular uptake, and silence the target gene.

SIRT6 promotes angiogenesis by enhancing VEGFA secretion via demyristoylation in endothelial cell.

Angiogenesis plays a pivotal role in ischemic cardiovascular disease, accompanied by epigenetic regulation during this process. Sirtuin 6 (SIRT6) has been implicated in the regulation of DNA repair, transcription and aging, with its deacetylase activity fully studied. However, the role of SIRT6 demyristoylase activity remains less clear, with even less attention given to its myristoylated substrates.

Nerve Fiber Layer Schisis in Coats Disease.

Purpose: To describe two cases of pediatric patients with Coats disease who developed nerve fiber layer (NFL) schisis.

Methods: Observational case series.

Results: Two male pediatric patients, ages 2 and 14, who were being treated for Coats disease were found to have NFL schisis on optical coherence tomography.

Establishment of nasal and olfactory epithelium organoids for unveiling mechanism of tissue regeneration and pathogenesis of nasal diseases.

Organoid is an ideal in vitro model with cellular heterogeneity and genetic stability when passaging. Currently, organoids are exploited as new tools in a variety of preclinical researches and applications for disease modeling, drug screening, host-microbial interactions, and regenerative therapy. Advances have been made in the establishment of nasal and olfactory epithelium organoids that are used to investigate the pathogenesis of smell-related diseases and cellular/molecular mechanism underlying the regeneration of olfactory epithelium.

Comprehensive epidemiology of melanoma at all sites: insights from Japan's National Cancer Registry, 2016-2017.

Background: Melanoma is a highly malignant cancer responsible for 55 000 deaths worldwide annually. Despite its severity, its epidemiology in Japan remains understudied owing to its rarity among Asians. This study aimed to determine the incidence of melanoma in Japan using data from the National Cancer Registry.

Retinal dysfunction in APOE4 knock-in mouse model of Alzheimer's disease.

Introduction: Late-onset Alzheimer's Disease (LOAD) is the predominant form of Alzheimer's disease (AD), and apolipoprotein E (APOE) ε4 is a strong genetic risk factor for LOAD. As an integral part of the central nervous system, the retina displays a variety of abnormalities in LOAD. Our study is focused on age-dependent retinal impairments in humanized APOE4-knock-in (KI) and APOE3-KI mice developed by the Model Organism Development and Evaluation for Late-Onset Alzheimer's Disease (MODEL-AD) consortium.