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Ectopic norrin induces growth of ocular capillaries and restores normal retinal angiogenesis in Norrie disease mutant mice.

Norrie disease is an X-linked retinal dysplasia that presents with congenital blindness, sensorineural deafness, and mental retardation. Norrin, the protein product of the Norrie disease gene (NDP), is a secreted protein of unknown biochemical function. Norrie disease (Ndp(y/-)) mutant mice that are deficient in norrin develop blindness, show a distinct failure in retinal angiogenesis, and completely lack the deep capillary layers of the retina. We show here that the transgenic expression of ectopic norrin under control of a lens-specific promoter restores the formation of a normal retinal vas

Polygenic disease and retinitis pigmentosa: albinism exacerbates photoreceptor degeneration induced by the expression of a mutant opsin in transgenic mice.

Expression of a mouse opsin transgene containing three point mutations (V20G, P23H, and P27L; termed VPP) causes a progressive photoreceptor degeneration that resembles in many important respects that seen in patients with autosomal dominant retinitis pigmentosa caused by a P23H point mutation. We have attempted to determine whether the degree of degeneration induced by expression of the transgene is influenced by albinism, a genetically mediated recessive trait that results in a deficiency in melanin formation in pigmented tissues throughout the body. Litters of albino and pigmented mice (nor

Retinal pigment epithelial glycosaminoglycan metabolism: intracellular versus extracellular pathways. In vitro studies in normal and diseased cells.

The synthesis and turnover of glycosaminoglycans (GAGs) in different fractions of cultured feline retinal pigment epithelium (RPE) were characterized. In one method of fractionation, trypsin was used to separate the extracellular components (referred to as trypsin-soluble glycocalyx) from the intracellular components. As a second method, the basal extracellular matrix (basal ECM) was separated from the rest of the GAGs (cell-associated GAGs) by extracting the cell layer with NH4OH. The incorporation of 35SO4 into cetylpyridinium chloride-precipitable GAGs in the cell-associated and the intrace

Tyrosine kinase inhibitors and their promising role in treating diabetic retinopathy and other retinal vascular diseases: overview of their routes of administration, pharmacokinetics, formulations, and drug delivery applications.

INTRODUCTION: Tyrosine Kinase Inhibitors (TKIs) are emerging as a promising alternative to protein-based anti-vascular endothelial growth factors (anti-VEGF) in treating diabetic retinopathy (DR) and other retinal vascular diseases (RVD). TKIs exhibit broader inhibition of tyrosine kinase pathways, superior tissue penetration, and favorable pharmacokinetics and chemical stability, which may reduce the need for injection frequency. Despite those advantages, their ocular administration and clinical efficacy still face many challenges, but they also open many opportunities. AREAS COVERED: This r

Association of severe liver disease and diabetic retinopathy, retinal imaging phenotypes, and plasma metabolic signatures: A UK biobank study.

BACKGROUND: Severe liver disease (SLD), including non-alcoholic fatty liver disease, alcoholic liver disease, viral hepatitis, and liver fibrosis/cirrhosis, is a systemic metabolic disorder that frequently coexists with diabetes. As one of the most common diabetic complications, diabetic retinopathy (DR) still has an unclear association with SLD. This study aimed to examine the relationship between hospitalization-defined SLD and subsequent hospitalization-defined DR, multimodal retinal imaging phenotypes, and shared plasma metabolic signatures that statistically accounted for part of the obse

Explainable multimodal retinal optical imaging for clinical parkinson's disease classification using fundus photography and OCT-derived features.

BACKGROUND: Retinal optical imaging offers a non-invasive photodiagnostic window into neurodegenerative disease. We evaluated whether bilateral fundus photographs, Optical Coherence Tomography (OCT)-derived quantitative retinal features, and leakage-controlled structured variables can support participant-level Parkinson's disease classification. METHODS: De-identified bilateral fundus photographs, OCT-derived quantitative retinal features, and structured tabular data were obtained from the Persian Cohort at Mashhad University of Medical Sciences. Diagnosis, medication status, UPDRS (Unified P

A two-stage deep learning framework with progressive feature fusion and attention mechanisms for multi-class retinal disease classification.

Accurate and efficient automated analysis of Optical Coherence Tomography (OCT) images is critical for large-scale retinal disease screening. However, current deep learning models often fail to simultaneously achieve high classification accuracy, practical computational feasibility, and interpretability. To deal with these problems, this paper presents a deep learning framework on YOLOv11 for eight-class retinal disease classification optimized using a two-stage optimization strategy. The proposed architecture incorporates a Progressive Spatial Fusion (PSF) module to hierarchically integrate m

Retinal microvascular dysfunction in mild cognitive impairment: Associations with cerebral small vessel disease, plasma biomarkers, and cognitive decline.

INTRODUCTION: Mild cognitive impairment (MCI) is a transitional stage to dementia, with cerebral small vessel disease (SVD) as a key contributor. Since retinal microvascular changes may mirror cerebral pathology, we investigated the associations between retinal microvasculature, neuroimaging, and plasma biomarkers in individuals with MCI. METHODS: 61 MCI patients and 57 controls (CU) underwent retinal imaging, Neuroimaging (peak width of skeletonized diffusivity [PSMD], white matter hyperintensities [WMH]), plasma biomarker analysis, and cognitive assessment. Partial correlations and mediatio

Impact of prolonged obstructive sleep apnea syndrome disease course on retinal-choroidal microcirculation: a WF-SS-OCTA study.

PURPOSE: This study used wide-field swept-source optical coherence tomography angiography (WF-SS-OCTA) to evaluate changes in macular vascular density in patients with obstructive sleep apnea syndrome (OSAS) at different stages of disease duration, aiming to elucidate the effects of prolonged disease course on retinal and choroidal microcirculation. METHOD: This cross-sectional study included 54 patients with obstructive sleep apnea syndrome (OSAS) who were newly diagnosed by polysomnography (PSG). Patients were divided according to disease duration into a < 10-year group (Group 1: 29 patient

Retinal hemodynamic and caliber biomarkers for the assessment of cerebral small vessel disease burden: insights from fundus fluorescein angiography.

BACKGROUND: Retinal microvasculature serves as a promising window to assess cerebral small vessel disease (CSVD). However, the association between comprehensive fundus fluorescein angiography (FFA) biomarkers and the total CSVD burden score remains to be fully elucidated. AIMES: To investigate the relationship between the total CSVD burden score and FFA-derived retinal biomarkers, and to identify independent retinal indicators for evaluating CSVD severity. METHODS: This retrospective study enrolled 120 patients. The CSVD burden score was evaluated based on lacunes of presumed vascular origin

Cell death analysis of inducible, titratable neurodegenerative disease models in zebrafish and human stem cell-derived retinal organoids.

Inducible disease models enable large-scale screening by providing control over pathology onset, such as cell death in neurodegenerative disease. The nitroreductase (NTR)/prodrug system of cell ablation has facilitated investigations of cell function and regeneration but has not been widely adopted as a disease modeling platform, perhaps owing to assumptions that the cell death mechanism(s) elicited is artificial in nature. Prior reports suggested that NTR/prodrug-mediated death occurred through apoptosis, necroptosis and/or parthanatos, which have all been implicated in neurodegenerative dise

OCT as a Dynamic Biomarker in Retinal Disease Management: Evidence, Decision Strategies, and Clinical Guidance for OCT Decision-Point Use.

PURPOSE: To describe how optical coherence tomography (OCT) is used in retinal disease management to aid in decision-making, including whether to treat or observe, extend or shorten dosing intervals, switch therapy, and plan or assess surgical care. METHODS: Pivotal randomized clinical trials and designs in neovascular age-related macular degeneration (nAMD), diabetic macular edema (DME), and retinal vein occlusion (RVO) were reviewed to characterize how OCT is used within evidence-based retreatment and monitoring strategies, including newer faricimab and aflibercept 8 mg trial programs. Thes

Cerebrospinal delivery of a bidirectional AAV9 vector improves optic nerve and retinal pathology in a sheep model of Tay-Sachs disease.

Tay-Sachs disease (TSD) is a fatal neurodegenerative lysosomal storage disease. The Jacob sheep is the only large-animal model of TSD, yet ocular pathology and the therapeutic potential of gene therapy remain poorly defined. Sheep cohorts included normal controls (n = 3); untreated TSD-affected (n = 4); intravenous AAV9-Bic_HexA/HexB-treated (n = 3); and intracerebroventricular, cisterna magna, and lumbar intrathecal AAV9- Bic_HexA/HexB-treated sheep (cerebrospinal fluid [CSF] therapy; n = 7). Retinal histopathology and immunohistochemistry, retinal whole-mount analyses for retinal ganglion ce

Self-limiting isolated choroidal granuloma with serous retinal detachment: atypical cat scratch disease without feline exposure.

BACKGROUND: The ocular manifestations of cat scratch disease (CSD) are diverse. We report a rare case of isolated choroidal granuloma with serous retinal detachment (SRD) secondary to Bartonella henselae infection in a patient without feline exposure. CASE PRESENTATION: A retrospective analysis of a 38-year-old female presenting in March 2024 with unilateral visual impairment and metamorphopsia. Diagnostic evaluations included multimodal imaging (spectral-domain optical coherence tomography [SD-OCT], fluorescein angiography [FA], indocyanine green angiography [ICGA]), and serologic testing. O

Optimised Hybrid Attention-Based Capsule Network Integrated Three-Pathway Network for Chronic Disease Detection in Retinal Images.

BACKGROUND: Over the past 20 years, researchers have concentrated on generating retinal images as a means of detecting and classifying chronic diseases. Early diagnosis and treatment are essential to avoid chronic diseases. Manually grading retinal images is time-consuming, prone to errors, and lacks patient-friendliness. Various Deep Learning (DL) algorithms are employed to detect chronic diseases from retinal fundus images. Also, these methods have some disadvantages, such as overfitting, computational cost, and so on. OBJECTIVE: The proposed research aims to develop Optimized DL based syst

Generation of iPSCs (RFSCi007-A, RFSCi008-A) from a patient with early-onset bilateral drusen and a healthy sibling for retinal disease modeling.

Drusen are extracellular deposits between the retinal pigment epithelium and Bruch's membrane, commonly linked to age-related macular degeneration (AMD). However, their presence in younger individuals offers a unique opportunity to study early disease mechanisms before extensive degeneration. We generated two human induced pluripotent stem cell (hiPSC) lines from siblings' peripheral blood mononuclear cells-one with early-onset bilateral drusen and the other unaffected. This genetically matched iPSC pair enables investigation of early drusen associated pathological changes driving retinal dise

Multimodal retinal imaging evaluation of macular degeneration persistent disease activity animal model in Watanabe heritable hyperlipidemic rabbits.

The Watanabe Heritable Hyperlipidemic (WHHL) rabbit, a model for familial hypercholesterolemia, offers a unique opportunity to study lipid m … onse. Our findings support WHHL rabbits as a promising preclinical model for studying lipid-related retinal diseases, AMD pathophysiology, and treatment resistance, advancing research into novel therapeutic strategies.

Retinal alterations resemble brain pathology in a rat model of Parkinson's disease induced by intranigral infusion of α-synuclein oligomers.

Parkinson's disease (PD) is a debilitating neurodegenerative synucleinopathy, characterized by dopaminergic degeneration, pathological deposition of alpha-synuclein (α-Syn), and neuroinflammation in both motor regions of the midbrain and non-motor areas of the cortex. Despite its motor-centric characterization, visual disturbances such as hallucinations, diplopia, altered contrast sensitivity and retinal abnormalities are well-documented non-motor changes of PD. While this evidence points to neuropathological processes in PD that extend beyond the brain, the neuropathological basis of retinal

Всеобъемлющий и систематический обзор по вопросу о добавке ресвератрола в качестве перспективного кандидата в отношении болезни сетчатки сетчатки: акцент на механизмах действий на основе доклинических исследований.

Resveratrol — естественный полифенолический соединение, демонстрирующее большой потенциал нейрозащиты, борьбы с воспалением и антиоксидацией. Предыдущие исследования показали, что ресвератрол может эффективно лечить различные животные модели болезней сетчатки. ПУРПОСЕ: Цель исследования состояла в том, чтобы использовать экспериментальную модель животных для оценки эффективности лечения заболеваний, связанных с сетчаткой, в рамках различных видов заболеваний, связанных с животным, таких, как ишемия-реперциозная травма, диабетическая ретинопатия, глаукома, хроническая окулярная гипертония, опти

Совпадение в аннотации оригинала
BACKGROUND: Resveratrol is a natural polyphenolic compound that shows great potential in neuroprotection, anti-inflammation,and antioxidation. Previous studies have demonstrated that resveratrol can effectively treat various animal models of retinal diseases. PURPOSE: The aim of the research was to use an animal experimental model to assess the effectivenes…

Recreating pathophysiology of CLN2 disease and demonstrating reversion by TPP1 gene therapy in hiPSC-derived retinal organoids and retina-on-chip.

Mutations in the tripeptidyl peptidase 1 (TPP1) gene lead to neuronal ceroid lipofuscinosis type 2 (CLN2), characterized by lysosomal accumulation of lipofuscins predominantly in the brain and retina. The ocular phenotype is characterized by outer retinal degeneration that leads to vision loss. Leveraging human induced pluripotent stem cell (hiPSC)-derived retinal organoids (ROs), retinal pigmented epithelial cells, and the retina-on-chip system, we establish an in vitro CLN2 model that recreates the principal histological hallmarks, namely the accumulation of subunit C of mitochondrial ATP sy