CoreTIA: a modular, statistically robust transduction inhibition assay for AAV neutralization.

Adeno-associated virus (AAV) gene therapy is often limited by pre-existing neutralizing antibodies (NAbs), yet current assays for NAb detection lack standardization and rarely quantify uncertainty, complicating cross-study comparisons. We present coreTIA (core Transduction Inhibition Assay), a comprehensive framework providing a modular experimental protocol and a statistically robust analysis pipeline. This integrated method delivers precise, reproducible NAb titers with quantified uncertainty for every result.

Engineering infrared light detection in blind human retina using ultrasensitive human TRPV1 channels.

Engineering infrared light sensitivity in the blind human retina could restore visual function in patients with regional retinal degeneration. However, current approaches are complex and contain non-human biological components. Using rational protein design, we engineered human transient receptor potential vanilloid 1 (hTRPV1) channels (Δ786-840) with temperature sensitivity that shifted from 45 to 41°C, which enabled near-infrared (NIR) light-induced heat activation of mammalian cells at close to physiological temperatures.

[Correction of suboptimal outcomes after cataract surgery using secondarily implanted AddOn intraocular lenses].

Introduction: Today, the expectation for cataract surgery is to achieve the best possible refractive outcome, but ultimately in many cases the visual outcome is suboptimal, which may require further surgical correction. Often the most optimal option for surgical correction is the implantation of a secondary supplementary lens in the ciliary sulcus. Aim: The aim of our study was to assess the long-term visual outcome after secondary implantation of the 1stQ AddOn® (Medicontur Medical Engeneering Ltd.

Real-Time Integration of Optical Coherence Tomography Thickness Map Overlays for Enhanced Visualization in Epiretinal Membrane Surgery: A Pilot Study.

(1) Background: The process of epiretinal membrane peeling (MP) requires precise intraoperative visualization to achieve optimal surgical outcomes. This study investigates the integration of preoperative Optical Coherence Tomography (OCT) images into real-time surgical video feeds, providing a dynamic overlay that enhances the decision-making process during surgery. (2) Methods: Five MP surgeries were analyzed, where preoperative OCT images were first manually aligned with the initial frame of the surgical video by selecting five pairs of corresponding points.

Decreased PAX6 and DSG1 Protein Expression in Corneal Epithelium of Patients with Epithelial Basal Membrane Dystrophy, Salzmann Nodular Degeneration, and Pterygium.

: Evaluation of stem cell, keratin, retinoic acid metabolism markers and non-coding micro-RNAs (miRNAs) in conjunctival and corneal samples of patients with epithelial basal membrane dystrophy (EBMD), Salzmann nodular degeneration (SND), pterygium and congenital aniridia (CA), to detect similarities and differences in their pathogenesis. : Impression cytology (IC) samples and corneal epithelial samples (CEs) of patients with EBMD, SND, pterygium, congenital aniridia, and healthy control subjects have been analyzed. The IC samples were subjected to qPCR, and the epithelial samples were subjected to qPCR and WB.

Toward a high-throughput in vitro model for estimating vitreous humor permeability of topically applied drugs.

The vitreous humor of the eye presents a crucial target for posterior segment therapy due to its proximity to the retina and relatively easy accessibility. Although intravitreous injections have long been the primary method for treating posterior segment disorders, recent successes in non-invasive topical treatments have led to the exploration of alternative administration routes. The objective of our study is to establish a platform for a Parallel Artificial Membrane Permeability Assay (PAMPA) model that mimics the posterior segment, modelling the permeation process of compounds applied topically on the eye.

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

Insights into eye genetics and recent advances in ocular gene therapy.

The rapid advancements in the field of genetics have significantly propelled the development of gene therapies, paving the way for innovative treatments of various hereditary disorders. This review focuses on the genetics of ophthalmologic conditions, highlighting the currently approved ophthalmic gene therapy and exploring emerging therapeutic strategies under development. Inherited retinal dystrophies represent a heterogeneous group of genetic disorders that manifest across a broad spectrum from infancy to late middle age.

High-efficiency base editing in the retina in primates and human tissues.

Stargardt disease is a currently untreatable, inherited neurodegenerative disease that leads to macular degeneration and blindness due to loss-of-function mutations in the ABCA4 gene. We have designed a dual adeno-associated viral vector encoding a split-intein adenine base editor to correct the most common mutation in ABCA4 (c.5882G>A, p.

Refractive Outcomes After Cataract Surgery-The Impact of Preoperative Visual Acuity, the Intraocular Lens Model, and the Surgeon's Experience: An Empirical Analysis of Hungarian and Kosovan Patients.

Phacoemulsification and intraocular lens (IOL) implantation comprise a standard procedure for cataract treatment. However, minimal refractive error remains a determinant of postoperative results. Our study aimed to evaluate the refractive outcomes and the impact of the surgeon's experience and the IOL model on Kosovan and Hungarian patients after cataract surgery.

Examination of the Corneal Endothelium in Patients With Congenital Aniridia With a PAX6 Mutation Using In Vivo Confocal Laser Scanning Microscopy.

Purpose: In PAX6 syndrome, it is still not clear, whether prenatally, parallel to the iris tissue developmental anomaly, there is neural ectodermal, neural crest, or mesodermal cell deposition at the corneal endothelium, affecting endothelial structure and function. In addition, because of the postnatal corneal inflammation and commonly appearing secondary glaucoma, progressive endothelial changes are expected. Our purpose was to study the corneal endothelium in subjects with PAX6 aniridia, using in vivo confocal laser scanning microscopy.

Personalized Management of Patients with Proliferative Diabetic Vitreoretinopathy.

To evaluate prognostic factors for visual outcome in patients with diabetes who have undergone vitrectomy (PPV) for severe proliferative diabetic vitreoretinopathy (PDVR) in at least one eye in the past 15 years. Medical records of 132 eyes of 66 patients were analyzed (median age 52 years 21-80; patients with type 1/2 diabetes 40/26; median follow-up 38 months 9-125). Correlations between final favorable visual outcome defined as 0.

[Ocular aspects of toxic epidermal necrolysis].

Stevens–Johnson syndrome and toxic epidermal necrolysis are rare but very serious hypersensitivity reactions that cause skin and mucosal disorders, mainly caused by drugs or infectious agents. While this pathology is a potentially life-threatening condition, the ocular consequences should not be overlooked, which may effect the long-term quality of life of the individual. The aim of this case report is to raise awareness of the ophthalmological complications of these conditions and the importance of starting treatment as soon as possible.

Association of SDF-1-3' Gene A Variant with Diabetic Retinopathy in the Hungarian Population.

We investigated the association between the SDF-1-3' (c801G > A) variant and the development of diabetic macular edema (DME) or proliferative diabetic retinopathy (PDR) in a Hungarian cohort. SDF-1-3' (c801G > A) was genotyped in 103 patients with diabetic retinopathy and 31 age- and sex-matched non-diabetic controls. Central retinal and choroidal thickness was measured by swept-source optical coherence tomography.

[Chloroquine and hydroxychloroquine maculopathy: a review of diagnostic and therapeutic guidelines in Hungarian and international clinical practice].

Drugs belonging to the aminoquinoline class have been used for a long time and are indispensable in the therapy of several pathologies, especially in systemic inflammatory diseases. The retinal toxicity affecting central vision caused by the use of chloroquine or hydroxychloroquine has been well-known already in the past century. Ophthalmic screening of patients who are taking these drugs is a frequently discussed issue, which manifests in constantly renewed screening protocols.

Indications and Outcomes of Intraocular Lens Explantation in a Tertiary Eyecare Center in Hungary between 2006 and 2020.

Purpose: Our study aimed to evaluate the indications and outcomes of intraocular lens (IOL) explantation surgeries in a tertiary eyecare center in Hungary.

Materials And Methods: This retrospective study included all IOL explantation surgeries performed between 2006 and 2020 at the Department of Ophthalmology of Semmelweis University, Budapest, Hungary. There were no exclusion criteria for this study.

Incidence and Mortality of Uveal Melanoma in Hungary: A Nationwide Study.

Uveal melanoma (UM) is the most common primary malignant ocular tumour in adults, although its epidemiology in Central and Eastern Europe is unclear. This study aimed to analyse the incidence and all-cause mortality of UM in Hungary. This nationwide, retrospective, longitudinal study used data from the National Health Insurance Fund and included patients aged ≥18 years who were newly diagnosed with UM (ICD-10 C69.

Examination of Subbasal Nerve Plexus and Central Corneal Stromal Microstructure in Subjects With Congenital Aniridia, Using Confocal Laser Scanning Microscopy.

Purpose: During life up to 70% of aniridia subjects develop aniridia-associated keratopathy (AAK). AAK is characterized by limbal stem cell insufficiency, impaired corneal epithelial cell differentiation and abnormal cell adhesion, which leads to centripetal spreading vascularization, conjunctivalization, and thickening of the cornea. Our aim was to examine the subbasal nerve plexus and central corneal stromal microstructure in subjects with congenital aniridia, using confocal laser scanning microscopy CLSM.

A Comparative Pharmacokinetic Study for Cysteamine-Containing Eye Drops as an Orphan Topical Therapy in Cystinosis.

Cystinosis is a low-prevalence lysosomal storage disease. The pathomechanism involves abnormal functioning of the cystinosine lysosomal cystine transporter (CTNS), causing intraliposomal accumulation of the amino acid cysteine disulfide, which crystallizes and deposits in several parts of the body. The most common ophthalmic complication of cystinosis is the deposition of "gold dust" cystine crystals on the cornea, which already occurs in infancy and leads to severe photosensitivity and dry eyes as it gradually progresses with age.

[Surgical treatment of intraorbital tumors in a tertiary center].

Introduction: Orbital tumors are rarely occurring in significant quantities apart from a few tertially referral centers, so statistically our data represent national proportions and characteristics of the affected patient group. Objective: Review of the tumor surgeries performed during the first three and a half years of the Semmelweis University Orbital Surgery Team (from February 2019 to August 2022). Analysis of the 94 operative cases, mainly based on age distribution, tumor dignity, location, and the type of surgery performed.

Disrupted Neural Regeneration in Dry Eye Secondary to Ankylosing Spondylitis-With a Theoretical Link between Piezo2 Channelopathy and Gateway Reflex, WDR Neurons, and Flare-Ups.

This study aimed at analyzing the corneal neural regeneration in ankylosing spondylitis patients using in vivo corneal confocal microscopy in correlation with Langerhans cell density, morphology, and dry eye parameters. Approximately 24 ankylosing spondylitis subjects and 35 age- and gender-matched control subjects were enrolled. Data analysis showed that all corneal nerve-fiber descriptives were lower in the ankylosing spondylitis group, implicating disrupted neural regeneration.