Biallelic null variants in C19orf44 cause a unique late onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy.

Purpose: To identify the genetic cause for disease in individuals affected with inherited retinal disease (IRD), to characterize their retinal phenotype and the properties of the underlying gene.

Methods: Participants underwent a comprehensive ophthalmological evaluation, including best-corrected visual acuity, visual field testing, fundus autofluorescence, optical coherence tomography and electroretinography. Genetic analyses included exome, genome and Sanger sequencing.

In Vivo Imaging of Cobalt-Induced Ocular Toxicity in a Mouse Model.

Cobalt is a trace element, crucial for red blood cell formation and neurological function. Cobalt toxicity is often only diagnosed after severe manifestations, including visual impairment. We aimed to investigate whether optical coherence tomography (OCT) and magnetic resonance imaging (MRI) can effectively detect cobalt-induced ocular toxicity in a murine model.

Housing RCS rats under specific pathogen-free conditions mildly ameliorates retinal degeneration and alters intestine microbiota.

Retinitis pigmentosa (RP) is a genetic blinding disease with over 80 causative genes. Disease progression varies between patients with similar genetic backgrounds. We assessed the association between environment, gut microbiota, and retinal degeneration in the RP rat model Royal College of Surgeons (RCS).

Optical coherence tomography Angio-B mode for early detection of myopic choroidal neovascularization and treatment with Bevacizumab.

Purpose: The purpose of this case report is to outline the management of a 41-year-old female with pathological myopia and type II choroidal neovascularization (CNV) diagnosed by optical coherence tomography angiography (OCT-A) angio-B mode.

Observations: The early detection of CNV with OCT-A angio-B mode and treatment with intra-vitreous injections of Bevacizumab contributed to the amelioration of her vision to 20/20, a better visual acuity than she had prior to treatment.

Conclusions And Importance: This case report suggests that an OCT-A scan may reveal the initial formation of abnormal vasculature before pathological changes are evident in structural OCT, allowing for prompt treatment and resolution in patients with myopic CNV.

A Novel Device for Suprachoroidal Drug Delivery to Retina: Evaluation in Nonhuman Primates.

Purpose: Evaluation of distribution and tolerance of suprachoroidal injection of indocyanine green (ICG) in nonhuman primates (NHPs) using a novel suprachoroidal (SC) delivery technology.

Methods: Three live and three euthanized African green monkeys were injected with 150 or 200 µL ICG/eye into the SC space of both eyes, 2.5 mm posterior to the limbus in the inferior quadrant, utilizing a novel SC injector.

PARIN5, a Novel Thrombin Receptor Antagonist Modulates a Streptozotocin Mice Model for Diabetic Encephalopathy.

Diabetic encephalopathy (DE) is an inflammation-associated diabetes mellitus (DM) complication. Inflammation and coagulation are linked and are both potentially modulated by inhibiting the thrombin cellular protease-activated receptor 1 (PAR1). Our aim was to study whether coagulation pathway modulation affects DE.

Functional Carbon Quantum Dots for Ocular Imaging and Therapeutic Applications.

Carbon quantum dots (CDs) are a class of emerging carbonaceous nanomaterials that have received considerable attention due to their excellent fluorescent properties, extremely small size, ability to penetrate cells and tissues, ease of synthesis, surface modification, low cytotoxicity, and superior water dispersion. In light of these properties, CDs are extensively investigated as candidates for bioimaging probes, efficient drug carriers, and disease diagnostics. Functionalized CDs represent a promising therapeutic candidate for ocular diseases.

Machine learning for comprehensive prediction of high risk for Alzheimer's disease based on chromatic pupilloperimetry.

Currently there are no reliable biomarkers for early detection of Alzheimer's disease (AD) at the preclinical stage. This study assessed the pupil light reflex (PLR) for focal red and blue light stimuli in central and peripheral retina in 125 cognitively normal middle age subjects (45-71 years old) at high risk for AD due to a family history of the disease (FH+), and 61 age-similar subjects with no family history of AD (FH-) using Chromatic Pupilloperimetry coupled with Machine Learning (ML). All subjects had normal ophthalmic assessment, and normal retinal and optic nerve thickness by optical coherence tomography.

Thicker macula in asymptomatic Ɛ4 middle-aged adults at high AD risk.

Introduction: We compared retinal layers' thickness between apolipoprotein E () Ɛ4 carriers and non-carriers in a cohort of cognitively normal middle-aged adults enriched for Alzheimer's disease (AD) risk.

Methods: Participants (N = 245) underwent spectral domain optical coherence tomography. Multivariate analyses of covariance adjusting for age, sex, education, and best corrected vision acuity was used to compare retinal thickness between groups.

Intrinsic Expression of Coagulation Factors and Protease Activated Receptor 1 (PAR1) in Photoreceptors and Inner Retinal Layers.

The aim of this study was to characterize the distribution of the thrombin receptor, protease activated receptor 1 (PAR1), in the neuroretina. Neuroretina samples of wild-type C57BL/6J and PAR1 mice were processed for indirect immunofluorescence and Western blot analysis. Reverse transcription quantitative real-time PCR (RT-qPCR) was used to determine mRNA expression of coagulation Factor X (FX), prothrombin (PT), and PAR1 in the isolated neuroretina.

Suprachoroidal delivery of bevacizumab in rabbit in vivo eyes: Rapid distribution throughout the posterior segment.

Purpose: To test the in-vivo bio-distribution and safety of bevacizumab delivery into the suprachoroidal space (SCS) using a novel injection system in a large eye model.

Methods: Bevacizumab (1.25 mg) was injected into the vitreous (IVT, 50 µL, n = 12) or the SCS, (150 µL, n = 37) of live rabbits.

Ophthalmic emergency-room visits during the Covid-19 pandemic - a comparative study.

Background: The goal of this study is to compare ophthalmic emergency room (OER) visits during the Coronavirus disease-19 (Covid-19) pandemic to those during a control period.

Methods: We compared all visits to the OER to Meir Medical Center in Israel, from March 15th to April 15th, 2020, during the Covid-19 pandemic and government mandated quarantine, to the same period in 2019. Factors analyzed were patient demographics, chief complaints, referral patterns, exam findings, treatments given, hospitalizations and surgical interventions.

retinal imaging in translational regenerative research.

Regenerative translational studies must include a longitudinal assessment of the changes in retinal structure and function that occur as part of the natural history of the disease and those that result from the studied intervention. Traditionally, retinal structural changes have been evaluated by histological analysis which necessitates sacrificing the animals. In this review, we describe key imaging approaches such as fundus imaging, optical coherence tomography (OCT), OCT-angiography, adaptive optics (AO), and confocal scanning laser ophthalmoscopy (cSLO) that enable noninvasive, non-contact, and fast imaging of the posterior segment.

Chromatic Pupilloperimetry Measures Correlate With Visual Acuity and Visual Field Defects in Retinitis Pigmentosa Patients.

Purpose: To evaluate the ability of chromatic pupilloperimetry to identify visual field (VF) defects in patients with retinitis pigmentosa (RP) and to test the correlation between pupilloperimetry impairment and retinal structural and functional measures.

Methods: The pupil responses of 10 patients with RP (mean age, 41.3 ± 16.

Efficacy and safety of injecting increasing volumes into the extravascular spaces of the choroid using a blunt adjustable depth injector.

Purpose: To evaluate the efficacy and safety of injecting increasing volumes into the extravascular spaces of the choroid (EVSC) in rabbit eyes in vivo using a blunt adjustable depth injector.

Methods: Indocyanine green (ICG) was injected in the superior-temporal quadrant, 2 mm posterior to the limbus at increasing volumes (0.1-0.

High-intensity Focused Ultrasound Treatment in Moderate Glaucoma Patients: Results of a 2-Year Prospective Clinical Trial.

Precis: Ultrasound Cyclo Plasty (UCP) treatment using high-intensity focused ultrasound (HIFU) is an effective and safe therapy to reduce intraocular pressure (IOP) in moderate glaucoma patients as was measured during a 2-year follow-up period.

Purpose: The purpose of this study was to evaluate the long-term safety and efficacy of the UCP procedure using HIFU in moderate glaucoma patients.

Patients And Methods: A prospective interventional noncomparative study was carried out.

Myopia and Childhood Migration: A Study of 607 862 Adolescents.

Purpose: Immigration studies can shed light on myopia development and reveal high-risk populations. To this end, we investigated the association among immigration, age at immigration, and myopia occurrence during adolescence.

Design: Population-based, retrospective, cross-sectional study.

Anterior-Segment Optical Coherence Tomography-Guided Measurement Of A Melting Ulcer For Follow-Up Of Corneoscleral Thinning Progression.

Purpose: To evaluate the feasibility of using anterior-segment optical coherence tomography (AS-OCT) for three-dimensional assessment of corneoscleral thinning progression in ulcers after pterygium removal.

Methods: A patient with corneoscleral melting after pterygium removal surgery and mitomycin C treatment was evaluated using AS-OCT imaging of the corneoscleral ulcer at five consecutive time points, up to 2 years. AS-OCT scans of 8.

Repetitive magnetic stimulation protects corneal epithelium in a rabbit model of short-term exposure keratopathy.

Purpose: To investigate the effect of repetitive magnetic stimulation (RMS) on corneal epithelial permeability in a rabbit model of exposure keratopathy.

Methods: 61 female New Zealand White (NZW) rabbits were treated on one eye with repetitive magnetic stimulation (RMS) at a frequency of 20 Hz for 15 min. The other eye was untreated.

Microarchitecture of Schlemm Canal Before and After Cataract Extraction Surgery.

Precis: Schlemm canal (SC) expands after cataract extraction (CE), both in the area and in volume by 25% as was measured using enhanced-depth imaging optical coherent tomography (EDI-OCT) in patients before and 1 week after CE.

Purpose: This study aims to characterize the structural and volume changes on the microstructure of SC in patients before and after uneventful phacoemulsification CE by using EDI-OCT.

Materials And Methods: Forty-one serial horizontal EDI-OCT B-scans (interval between B-scans, 69 µm) were obtained in the nasal corneoscleral limbus before and 1 week after CE.

Chromatic pupilloperimetry for objective diagnosis of Best vitelliform macular dystrophy.

Purpose: To determine the pupil response of Best vitelliform macular dystrophy (BVMD) patients for focal blue and red light stimuli presented at 76 test points in a 16.2° visual field (VF) using a chromatic pupilloperimeter.

Methods: An observational study was conducted in 16 participants: 7 BVMD patients with a heterozygous BEST1 mutation and 9 similar-aged controls.

Multimodal Assessment of Corneal Erosions Using Optical Coherence Tomography and Automated Grading of Fluorescein Staining in a Rabbit Dry Eye Model.

Purpose: To evaluate the potential use of anterior segment spectral domain optical coherence tomography (AS-SD-OCT) combined with an automated grading of fluorescein staining for assessment of corneal erosions in a rabbit short-term dry eye model.

Methods: Twenty-one New Zealand white rabbits were anesthetized and eyes were kept open for 140 minutes to induce acute corneal desiccation. Rectangular scans of the cornea were performed using Spectralis AS-SD-OCT.

Blue Autofluorescence Fundus Imaging for Monitoring Retinal Degeneration in Royal College of Surgeons Rats.

Purpose: Development of a method for noninvasive longitudinal follow-up of retinal degeneration in the whole retina for Royal College of Surgeons (RCS) rats, a commonly used model of retinitis pigmentosa associated with mutations in the MER-proto-oncogene tyrosine kinase () gene.

Methods: Pigmented RCS rats at postnatal (p) days p28 to p84 were subjected to a biweekly spectral-domain optical coherence tomography (SD-OCT), blue laser fundus autofluorescence (BL-FAF) imaging, and multicolor fundus imaging. Wild-type (WT; Long Evans) rats were tested as control.