Intravitreal Injections for Macular Edema in Silicone Oil Filled Eyes.

Purpose: Macular edema is a known complication following complicated retinal detachment repair with silicone oil (SiO) tamponade. Limited previous research has not led to a consensus regarding the safety and efficacy of intra-SiO injections. Consequently, we aim to present our case series study on intra-SiO injections for postoperative macular edema.

Evaluation of Retinal and Posterior Segment Vascular Changes Due to Systemic Hypoxia Using Optical Coherence Tomography Angiography.

Retinal vascular occlusions are a significant cause of visual impairment in older adults, resulting in ischemic retinal damage and sudden vision loss. This study evaluates the retinal, optic nerve head (ONH), and choroidal capillary networks in chronic and acute-on-chronic hypoxia compared to normal controls using optical coherence tomography angiography (OCT-A). We evaluated a prospective study including twenty patients in the hypoxic group (mean age 61.

A Leaky Deep Intronic Splice Variant in Is Associated with Non-Syndromic Retinitis Pigmentosa.

Background: Inherited retinal diseases (IRDs) are clinically complex and genetically heterogeneous visual impairment disorders with varying penetrance and severity. Disease-causing variants in at least 289 nuclear and mitochondrial genes have been implicated in their pathogenesis.

Methods: Whole exome sequencing results were analyzed using established pipelines and the results were further confirmed by Sanger sequencing and minigene splicing assay.

The Effect of Glucagon-like-Peptide-1 Receptor Agonists on Diabetic Retinopathy Progression, Central Subfield Thickness, and Response to Intravitreal Injections.

To examine the effects of glucagon-like-peptide-1 receptor agonists (GLP1-RAs) on diabetic retinopathy (DR) progression, visual acuity (VA), central subfield thickness (CST), and response to intravitreal injections (IVIs) in the Hadassah ophthalmological cohort. Of 4500 Hadassah patients with DR, 146 had a documented first course of GLP1-RA treatment lasting at least a year along with ophthalmological follow-up. Of these, 35 underwent at least two optical coherence tomography (OCT) exams with a one-year interval.

Role of Visual Evoked Potential and Ocular Trauma Score as Predictors of Visual Recovery in Eye Globe Injuries.

Purpose: Evaluate visual evoked potential (VEP) and ocular trauma score (OTS) efficacy in predicting visual potential in globe trauma without optic nerve involvement.

Methods: A retrospective cohort study analyzed clinical data from eye globe injury cases undergoing flash VEP between January 2000 and May 2021. Inclusion criteria: flash VEP completion within 48 hours, pre-surgical intervention.

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.

Inherited retinal diseases (IRDs) are extremely heterogeneous with at least 350 causative genes, complicating the process of genetic diagnosis. We analyzed samples of 252 index cases with IRDs using the Blueprint Genetics panel for "Retinal Dystrophy" that includes 351 genes. The cause of disease could be identified in 55% of cases.

Genetic and Clinical Analyses of the -c.226C>T Variant Resulting in a Dual Mutational Mechanism.

Retinitis pigmentosa (RP) is a heterogeneous inherited retinal disorder. Mutations in cause autosomal recessive (AR) RP. We aimed to characterize the genotype, expression pattern, and phenotype in a large cohort of cases.

Genome wide association study and genomic risk prediction of age related macular degeneration in Israel.

The risk of developing age-related macular degeneration (AMD) is influenced by genetic background. In 2016, the International AMD Genomics Consortium (IAMDGC) identified 52 risk variants in 34 loci, and a polygenic risk score (PRS) from these variants was associated with AMD. The Israeli population has a unique genetic composition: Ashkenazi Jewish (AJ), Jewish non-Ashkenazi, and Arab sub-populations.

Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel.

Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of diseases which cause visual loss due to Mendelian mutations in over 250 genes, making genetic diagnosis challenging and time-consuming. Here, we developed a new tool, CDIP (Cost-effective Deep-sequencing IRD Panel) in which a simultaneous sequencing of common mutations is performed. CDIP is based on simultaneous amplification of 47 amplicons harboring common mutations followed by next-generation sequencing (NGS).

Disease quiescence in endophthalmitis patients treated with anti-VEGF injections for retinal pathologies.

Background: The most feared complication of intravitreal injections is the development of endophthalmitis, which could lead to irreversible visual loss. The aim of this study was to characterize the clinical profiles, causative pathogens, and clinical outcome of patients post-endophthalmitis.

Methods: Retrospective, single center case series study.

Genome-wide association study and genomic risk prediction of age-related macular degeneration in Israel.

Purpose: The risk of developing age-related macular degeneration(AMD) is influenced by genetic background. In 2016, International AMD Genomics Consortium(IAMDGC) identified 52 risk variants in 34 loci, and a polygenic risk score(PRS) based on these variants was associated with AMD. The Israeli population has a unique genetic composition: Ashkenazi Jewish(AJ), Jewish non-Ashkenazi, and Arab sub-populations.

Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice.

Purpose: Usher syndrome (USH) is the most common syndromic inherited retinal disease, causing retinitis pigmentosa and sensorineural hearing loss. We reported previously that a nonsense mutation in the centrosome-associated protein CEP250 gene (encoding C-Nap1) causes atypical USH in patients of Iranian Jewish origin. To better characterize CEP250, we aimed to generate and study a knockout (KO) mouse model for Cep250.

Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies.

Purpose: To assess the prevalence of Cystoid macular edema (CME) in children with early onset retinal dystrophies (EORD) and to evaluate if there are associated factors and/or response to early treatment.

Methods: Consecutive, retrospective case series. Medical records of patients, 18 years or younger, diagnosed with EORD were included in the study.

Translational Read-Through Drugs (TRIDs) Are Able to Restore Protein Expression and Ciliogenesis in Fibroblasts of Patients with Retinitis Pigmentosa Caused by a Premature Termination Codon in .

Ataluren and Gentamicin are translational readthrough drugs (TRIDs) that induce premature termination codon (PTC) readthrough, resulting in the production of full-length proteins that usually harbor a single missense substitution. FAM161A is a ciliary protein which is expressed in photoreceptors, and pathogenic variants in this gene cause retinitis pigmentosa (RP). Applying TRIDs on fibroblasts from RP patients due to PTC in the (p.

Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.

Purpose: Blue cone monochromacy (BCM) is an X-linked retinopathy caused by mutations in the red and green cone opsin genes. The aim of this study was to establish the clinical, genetic, and electrophysiological characteristics of a specific form of BCM.

Methods: Patients harboring mutations in the genes underwent a full clinical examination, including ocular examination, color vision, full-field electroretinography, color fundus and autofluorescence photography, and optical coherence tomography.

Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients.

encodes a ciliary protein expressed in the photoreceptor connecting cilium. Mutations in this gene cause ∼5% of Leber congenital amaurosis (LCA) worldwide, but are also associated with cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) phenotypes. Our purpose was to clinically characterize patients from our cohort, collect clinical data of additional patients reported previously in the literature, identify common clinical features, and seek genotype-phenotype correlations.

Analysis of the Aqueous Humor Proteome in Patients With Age-Related Macular Degeneration.

Purpose: Age-related macular degeneration (AMD) is associated with altered gene and protein expression in the retina. We characterize the aqueous humor (AH) proteome in AMD to gain insight into the pathogenesis of the disease and identify potential biomarkers.

Methods: AH was collected from age and gender matched neovascular AMD (nvAMD; n = 10) patients and controls (n = 10).

Postoperative Macular Proliferative Vitreoretinopathy: A Case Series and Literature Review.

Premacular membranes developing following pars plana vitrectomy (PPV) can cause significant anatomical and functional deficits to the macula. Recent reports showed that postoperative premacular membranes are a localized presentation of macular proliferative vitreoretinopathy (mPVR). Here, we report retrospectively a case series of 5 patients with severe mPVR which developed following uneventful PPV and were followed up to 32 months in the Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, between October 2016 and February 2020.

Cell-Based Therapies for Age-Related Macular Degeneration.

Age-related macular degeneration (AMD) is a leading cause of blindness worldwide. The pathogenesis of AMD involves dysfunction and loss of the retinal pigment epithelium (RPE), a monolayer of cells that provide nourishment and functional support for the overlying photoreceptors. RPE cells in mammals are not known to divide, renew or regenerate in vivo, and in advanced AMD, RPE loss leads to degeneration of the photoreceptors and impairment of vision.