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Search Results (719)

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12 pages, 1192 KB  
Article
Photobiomodulation Acutely Augments Resting Metabolism in Women with Obesity
by Massimo De Nardi, Silvia Allemano, Marta Buratti, Eva Conti, Luca Filipas, Daniel Gotti, Livio Luzi and Roberto Codella
Nutrients 2025, 17(21), 3357; https://doi.org/10.3390/nu17213357 - 25 Oct 2025
Viewed by 52
Abstract
Background/Objectives: Photobiomodulation (PBM) is a non-invasive, low-level laser treatment shown to improve insulin resistance, glucose metabolism, and obesity-related inflammation. This study examined whether PBM could acutely enhance mitochondrial efficiency and energy metabolism in women with obesity. Methods: In a randomized, crossover [...] Read more.
Background/Objectives: Photobiomodulation (PBM) is a non-invasive, low-level laser treatment shown to improve insulin resistance, glucose metabolism, and obesity-related inflammation. This study examined whether PBM could acutely enhance mitochondrial efficiency and energy metabolism in women with obesity. Methods: In a randomized, crossover within-subject design, 16 women with obesity (43 ± 5 years; BMI: 36 ± 4 kg/m2) and 16 sedentary normal-weight women (43 ± 5 years; BMI: 22.7 ± 2 kg/m2) underwent PBM (front and back exposure; red light, 633–660 nm; NIR, 850–940 nm) and a sham stimulation (SHAM), as a control, for 12 min. Resting energy expenditure (REE) was assessed via indirect calorimetry before and after exposure. Secondary measures included skin autofluorescence, heart rate, blood pressure, profile of mood states, rate of perceived exertion (RPE), and flexibility. Diet and physical activity were controlled. Results: A 2 × 2 × 2 ANOVA revealed a significant group × time interaction (F3,60 = 3.054, p = 0.03) and a main effect of time (F1,60 = 10.88, p = 0.001). Women with obesity showed a significant increase in REE post-PBM compared to pre-PBM (+9.3%, 1624 ± 314 vs. 1486 ± 327 kcal/day; p < 0.001), with no change in the respiratory exchange ratio. Additionally, RPE decreased and flexibility improved in both groups following PBM. Front and back skin temperatures increased significantly post-PBM, with greater changes observed in the back versus the front. Conclusions: These preliminary findings indicate that PBM acutely enhances energy utilization efficiency in women with obesity, increasing resting energy expenditure without modifying substrate oxidation. PBM may represent a promising non-invasive adjunctive strategy for improving the metabolic health of obese individuals. Full article
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10 pages, 9871 KB  
Article
Mutation of the Thyroid Hormone Receptor Beta Gene (THRB) Causes Vitelliform Macular Dystrophy with High Intrafamilial Variability
by Elisa A. Mahler, Lars C. Moeller, Katharina Wall, Marlene Saßmannshausen, Bettina Kron, Hanno J. Bolz, Frank G. Holz and Philipp Herrmann
Genes 2025, 16(10), 1240; https://doi.org/10.3390/genes16101240 - 20 Oct 2025
Viewed by 258
Abstract
Background/Objectives: Herein, we report the clinical cases of two affected first-degree relatives from a family with highly variable macular dystrophy, expanding the known phenotype spectrum with mutations in the thyroid hormone receptor beta gene (THRB). Methods: Multimodal retinal imaging included wide-field [...] Read more.
Background/Objectives: Herein, we report the clinical cases of two affected first-degree relatives from a family with highly variable macular dystrophy, expanding the known phenotype spectrum with mutations in the thyroid hormone receptor beta gene (THRB). Methods: Multimodal retinal imaging included wide-field fundus photography, fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) imaging, performed alongside functional testing (visual fields, electroretinogram (ERG)), metabolic blood analyses, and genetic testing of both cases. Results: A 67-year-old female patient presenting with reading difficulties and visual impairment since childhood was referred for evaluation and counseling for potential treatment options. Extensive ophthalmologic examination, including multimodal retinal imaging and functional testing, revealed an occult macular dystrophy. Her 39-year-old son reported similar visual symptoms in combination with mild photophobia. In multimodal retinal imaging, he also showed a macular dystrophy but with a vitelliform phenotype. Genetic testing identified the heterozygous pathogenic variant c.283+1G>A in the thyroid hormone receptor beta gene (THRB) in both patients. Conclusions: This report shows a high intrafamilial variability of macular dystrophy caused by a heterozygous THRB mutation, which has only recently been recognized as a cause of macular dystrophy. Here, we describe a novel clinical presentation characterized by a vitelliform lesion, expanding the phenotypic spectrum of THRB-associated macular dystrophy. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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23 pages, 364 KB  
Review
Optical Imaging Technologies and Clinical Applications in Gastrointestinal Endoscopy
by Khyati Bidani, Vishali Moond, Madhvi Nagar, Arkady Broder and Nirav Thosani
Diagnostics 2025, 15(20), 2625; https://doi.org/10.3390/diagnostics15202625 - 17 Oct 2025
Viewed by 501
Abstract
Optical imaging technologies expand gastrointestinal endoscopy beyond white-light endoscopy (WLE), improving visualization of mucosal, vascular, and subsurface features. They are applied to the detection of neoplastic and premalignant lesions, inflammatory diseases, and small bowel and pancreatic disorders, though their validation and readiness for [...] Read more.
Optical imaging technologies expand gastrointestinal endoscopy beyond white-light endoscopy (WLE), improving visualization of mucosal, vascular, and subsurface features. They are applied to the detection of neoplastic and premalignant lesions, inflammatory diseases, and small bowel and pancreatic disorders, though their validation and readiness for routine practice vary. This review critically evaluates both guideline-endorsed and investigational optical imaging techniques across major gastrointestinal indications, highlighting diagnostic performance, level of validation, current guideline recommendations, and practical challenges to adoption. In Barrett’s esophagus, narrow-band imaging (NBI) is guideline-endorsed, while acetic acid chromoendoscopy is validated in expert centers. For gastric intestinal metaplasia and early gastric cancer, magnifying NBI achieves diagnostic accuracies exceeding 90% and is guideline-recommended, with acetic acid chromoendoscopy aiding in margin delineation. In inflammatory bowel disease, dye-spray chromoendoscopy is the reference standard for dysplasia surveillance, with virtual methods such as NBI, FICE, and i-SCAN serving as practical alternatives when dye application is not feasible. In the colorectum, NBI supports validated optical diagnosis strategies (resect-and-discard, diagnose-and-leave), while dye-based chromoendoscopy improves detection of flat and serrated lesions. Capsule endoscopy remains the standard for small bowel evaluation of bleeding, Crohn’s disease, and tumors, with virtual enhancement, intelligent chromo capsule endoscopy, and AI-assisted interpretation emerging as promising adjuncts. Pancreaticobiliary applications of optical imaging are also advancing, though current evidence is still preliminary. Investigational modalities including confocal laser endomicroscopy, optical coherence tomography, autofluorescence, Raman spectroscopy, and fluorescence molecular imaging show potential but remain largely restricted to research or expert settings. Guideline-backed modalities such as NBI and dye-based chromoendoscopy are established for clinical practice and supported by robust evidence, whereas advanced techniques remain investigational. Future directions will rely on broader validation, integration of artificial intelligence, and adoption of molecularly targeted probes and next-generation capsule technologies, which together may enhance accuracy, efficiency, and standardization in gastrointestinal endoscopy. Full article
(This article belongs to the Special Issue Advances in Gastrointestinal Endoscopy: From Diagnosis to Therapy)
24 pages, 9046 KB  
Article
Novel Multimodal Imaging System for High-Resolution and High-Contrast Tissue Segmentation Based on Chemical Properties
by Björn van Marwick, Felix Lauer, Felix Wühler, Miriam Rittel, Carmen Wängler, Björn Wängler, Carsten Hopf and Matthias Rädle
Sensors 2025, 25(20), 6342; https://doi.org/10.3390/s25206342 - 14 Oct 2025
Viewed by 619
Abstract
Accurate and detailed tissue characterization is a central goal in medical diagnostics, often requiring the combination of multiple imaging modalities. This study presents a multimodal imaging system that integrates mid-infrared (MIR) scanning with fluorescence imaging to enhance the chemical specificity and spatial resolution [...] Read more.
Accurate and detailed tissue characterization is a central goal in medical diagnostics, often requiring the combination of multiple imaging modalities. This study presents a multimodal imaging system that integrates mid-infrared (MIR) scanning with fluorescence imaging to enhance the chemical specificity and spatial resolution in biological samples. A motorized mirror allows rapid switching between MIR and fluorescence modes, enabling efficient, co-registered data acquisition. The MIR modality captures label-free chemical maps based on molecular vibrations, while the fluorescence channel records endogenous autofluorescence for additional biochemical contrast. Applied to mouse brain tissue, the system enabled the clear differentiation of gray matter and white matter, supported by the clustering analysis of spectral features. The addition of autofluorescence imaging further improved anatomical segmentation and revealed fine structural details. In mouse skin, the approach allowed the precise mapping of the layered tissue architecture. These results demonstrate that combining MIR scanning and fluorescence imaging provides complementary, label-free insights into tissue morphology and chemistry. The findings support the utility of this approach as a powerful tool for biomedical research and diagnostic applications, offering a more comprehensive understanding of tissue composition without relying on staining or external markers. Full article
(This article belongs to the Section Biomedical Sensors)
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12 pages, 1047 KB  
Article
Are Advanced Glycation End-Products and Skin Autofluorescence Associated with E-Selectin and Pulse Wave Velocity as Markers of Atherosclerosis Risk in Children with Obesity?
by Anna Medyńska, Anna Noczyńska and Danuta Zwolińska
Int. J. Mol. Sci. 2025, 26(20), 9966; https://doi.org/10.3390/ijms26209966 - 13 Oct 2025
Viewed by 226
Abstract
Obesity is a risk factor for numerous complications, including atherosclerosis, the pathogenesis of which is complex. The aim of our study is to evaluate serum levels of E-selectin and hs-CRP and pulse wave velocity (PWV) as atherosclerosis risk factors and to explore their [...] Read more.
Obesity is a risk factor for numerous complications, including atherosclerosis, the pathogenesis of which is complex. The aim of our study is to evaluate serum levels of E-selectin and hs-CRP and pulse wave velocity (PWV) as atherosclerosis risk factors and to explore their relationship with advanced glycation end products (AGEs), methylgioxal (MG) and skin autofluorescence (sAF). We evaluated 125 children aged 8–18 years with simple obesity, stratified into two subgroups based on SDS BMI (Group I: 2–4; Group II: >4), and compared them with 33 age-matched peers of normal weight. Children with obesity exhibited significantly elevated serum concentrations of AGEs, MG, E-selectin, and hs-CRP relative to the control group. Additionally, both height-normalized pulse wave velocity (SDS PWV) and sAF values were significantly higher in the children with obesity compared to their normal-weight counterparts. Except for sAF, which was elevated in children with obesity with a higher SDS BMI, no significant differences were observed among the subgroups of children. Positive correlations were observed between E-selectin and AGEs, MG and SDS PWV, as well as sAF and SDS BMI. Our findings indicate that children with obesity exhibit early signs of atherosclerotic changes, regardless of the degree of obesity. Moreover, circulating AGEs may represent a more reliable biomarker of atherosclerosis risk than sAF, as suggested by the strong positive correlation between AGEs and E-selectin. Further studies are warranted to validate these findings. Full article
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19 pages, 1382 KB  
Article
Public Health Screening for Cardiometabolic Risk: Lessons from Advanced Glycation End-Products and ABC Target Achievement in Dalmatian Adults with Type 2 Diabetes
by Josipa Radić, Marijana Vučković, Hana Đogaš, Anders Ødeverp, Marina Grubić and Mislav Radić
Biomedicines 2025, 13(10), 2418; https://doi.org/10.3390/biomedicines13102418 - 2 Oct 2025
Viewed by 576
Abstract
Background/Objectives: Cardiometabolic risk remains a major challenge in patients with type 2 diabetes mellitus (DMT2). This study aimed to evaluate cardiovascular (CV) risk stratification using advanced glycation end-products (AGEs) measured via skin autofluorescence (SAF) and to assess the achievement of evidence-based ABC targets [...] Read more.
Background/Objectives: Cardiometabolic risk remains a major challenge in patients with type 2 diabetes mellitus (DMT2). This study aimed to evaluate cardiovascular (CV) risk stratification using advanced glycation end-products (AGEs) measured via skin autofluorescence (SAF) and to assess the achievement of evidence-based ABC targets (HbA1c, blood pressure, low-density lipoprotein (LDL) cholesterol) in adults with DMT2 in Dalmatia. Methods: In this single-center cross-sectional study, 251 adults with DMT2 were stratified by CV risk based on SAF measured AGE levels. Clinical, biochemical, and anthropometric data were collected, including ABC goal attainment and medication use. Statistical analyses compared groups and explored predictors of ABC target achievement using regression models adjusted for clinical factors. Results: Only 17.5% of participants achieved all three ABC goals, indicating suboptimal cardiometabolic control. Those with elevated CV risk had higher hip circumference and lower diastolic blood pressure. Use of sodium-glucose cotransporter 2 (SGLT2) inhibitors was positively associated with ABC goal achievement in patients with prior CV or cerebrovascular events, while higher body mass index was negatively associated. SAF measured AGE levels correlated with cardiometabolic risk but showed no significant differences across LDL cholesterol or other traditional markers. Conclusions: SAF AGE measurement shows potential for CV risk stratification in DMT2 beyond traditional factors. The low rate of ABC goal attainment highlights the need for intensified individualized management incorporating novel biomarkers and therapeutics like SGLT2 inhibitors. Further prospective studies are needed to validate these findings and improve prevention of cardiovascular complications in DMT2. Full article
(This article belongs to the Special Issue Diabetes: Comorbidities, Therapeutics and Insights (3rd Edition))
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21 pages, 3884 KB  
Article
DSOF: A Rapid Method to Determine the Abundance of Microalgae and Methanotrophic Bacteria in Coculture Using a Combination of Differential Sedimentation, Optical Density, and Fluorescence
by Carlos Cartin-Caballero, Christophe Collet, Daniel Gapes, Peter A. Gostomski, Matthew B. Stott and Carlo R. Carere
Bioengineering 2025, 12(9), 1000; https://doi.org/10.3390/bioengineering12091000 - 19 Sep 2025
Viewed by 566
Abstract
Cocultivation of microalgae and aerobic methanotrophs represents an emerging biotechnology platform to produce high-protein biomass, yet quantifying individual species in mixed cultures remains challenging. Here, we present a rapid, low-cost method—differential sedimentation, optical density, and fluorescence (DSOF)—to determine the abundance of coculture members. [...] Read more.
Cocultivation of microalgae and aerobic methanotrophs represents an emerging biotechnology platform to produce high-protein biomass, yet quantifying individual species in mixed cultures remains challenging. Here, we present a rapid, low-cost method—differential sedimentation, optical density, and fluorescence (DSOF)—to determine the abundance of coculture members. DSOF exploits differences in cell size and pigment autofluorescence between the thermoacidophilic microalga and methanotrophic species Galdieria sp. RTK37.1 and Methylacidiphilum sp. RTK17.1, respectively, to selectively sediment algal cells and estimate population contributions via OD600 and phycocyanin fluorescence. Evaluation with model suspensions across a wide cell density range (0 ≤ [Galdieria]: ≤ 3.23 A.U., and 0 ≤ [Methylacidiphilum] ≤ 1.54 A.U.) showed strong agreement with known values, with most absolute errors < 0.1 A.U. and relative errors < 10% at moderate biomass levels. Application to live batch cocultures under microalga or methanotroph growth-suppressed conditions, and during simultaneous growth, demonstrated accurate tracking of population dynamics and revealed enhanced methanotroph growth in the presence of oxygenic microalgae. While DSOF accuracy decreases at very concentrated biomass (>2.0 A.U. for Galdieria) or under nitrogen-limiting conditions, the model provides a practical, scalable alternative to more complex, invasive or expensive techniques, enabling near real-time monitoring of microalgae–methanotroph cocultures. Full article
(This article belongs to the Special Issue Engineering Microalgal Systems for a Greener Future)
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14 pages, 2655 KB  
Article
GUCY2D-Associated Retinopathy: A Comparative Study Between Humans and German Spitz Dogs
by Bianca L. V. Guareschi, Juliana M. F. Sallum, Mariana V. Salles, João G. O. de Moraes, Mariza Bortolini, Carolyn Cray, Bret A. Moore, Carolina C. da Rosa and Fabiano Montiani-Ferreira
Vet. Sci. 2025, 12(9), 879; https://doi.org/10.3390/vetsci12090879 - 11 Sep 2025
Viewed by 730
Abstract
The anatomical and physiological similarities between human and canine eyes suggest that dogs may serve as a valuable model for studying retinopathies and developing future gene therapies. This study aims to evaluate the similarities and differences between humans with GUCY2D gene variants causing [...] Read more.
The anatomical and physiological similarities between human and canine eyes suggest that dogs may serve as a valuable model for studying retinopathies and developing future gene therapies. This study aims to evaluate the similarities and differences between humans with GUCY2D gene variants causing Leber’s congenital amaurosis (LCA) and a group of German Spitz dogs with hereditary retinopathy due to variants in the same gene, to assess their potential as an animal model for gene therapy research. A review of medical records, genetic testing, and ophthalmological examinations was conducted, including data such as age, genotyping, fundus photography, visual acuity (VA), fundus autofluorescence, optical coherence tomography (OCT), and electroretinography (ERG). Both groups presented subtle fundus abnormalities and severely reduced or absent ERG responses. In humans, OCT scans revealed decreased retinal thickness and structural alterations in the outer retinal layers. Similarly, the affected dogs exhibited focal neurosensory retinal detachments. The German Spitz model with GUCY2D variants shows significant parallels in retinal structure and functional impairment and may represent a promising candidate for preclinical gene therapy studies for LCA. Full article
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22 pages, 3504 KB  
Article
New Application for the Early Detection of Wound Infections Using a Near-Infrared Fluorescence Device and Forward-Looking Thermal Camera
by Ha Jong Nam, Se Young Kim and Hwan Jun Choi
Diagnostics 2025, 15(17), 2221; https://doi.org/10.3390/diagnostics15172221 - 1 Sep 2025
Viewed by 806
Abstract
Background: Timely and accurate identification of wound infections is essential for effective management, yet remains clinically challenging. This study evaluated the utility of a near-infrared autofluorescence imaging system (Fluobeam®, Fluoptics, Grenoble, France) and a thermal imaging system (FLIR®, Teledyne [...] Read more.
Background: Timely and accurate identification of wound infections is essential for effective management, yet remains clinically challenging. This study evaluated the utility of a near-infrared autofluorescence imaging system (Fluobeam®, Fluoptics, Grenoble, France) and a thermal imaging system (FLIR®, Teledyne LLC, Thousand Oaks, CA, USA) for detecting bacterial and fungal infections in chronic wounds. Fluobeam® enables real-time visualization of microbial autofluorescence without exogenous contrast agents, whereas FLIR® detects localized thermal changes associated with infection-related inflammation. Methods: This retrospective clinical study included 33 patients with suspected wound infections. All patients underwent autofluorescence imaging using Fluobeam® and concurrent thermal imaging with FLIR®. Imaging findings were compared with microbiological culture results, clinical signs of infection, and semi-quantitative microbial burdens. Results: Fluobeam® achieved a sensitivity of 78.3% and specificity of 80.0% in detecting culture-positive infections. Fluorescence signal intensity correlated strongly with microbial burden (r = 0.76, p < 0.01) and clinical indicators, such as exudate, swelling, and malodor. Pathogens with high metabolic fluorescence, including Pseudomonas aeruginosa and Candida spp., were consistently identified. Representative cases demonstrate the utility of fluorescence imaging in guiding targeted debridement and enhancing intraoperative decision-making. Conclusions: Near-infrared autofluorescence imaging with Fluobeam® and thermal imaging with FLIR® offer complementary, noninvasive diagnostic insights into microbial burden and host inflammatory response. The combined use of these modalities may improve infection detection, support clinical decision-making, and enhance wound care outcomes. Full article
(This article belongs to the Section Medical Imaging and Theranostics)
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26 pages, 2665 KB  
Review
Integrating Artificial Intelligence in Bronchoscopy and Endobronchial Ultrasound (EBUS) for Lung Cancer Diagnosis and Staging: A Comprehensive Review
by Sebastian Winiarski, Marcin Radziszewski, Maciej Wiśniewski, Jakub Cisek, Dariusz Wąsowski, Dariusz Plewczyński, Katarzyna Górska and Piotr Korczyński
Cancers 2025, 17(17), 2835; https://doi.org/10.3390/cancers17172835 - 29 Aug 2025
Viewed by 3420
Abstract
Artificial intelligence (AI) is increasingly investigated as a potential adjunct in the diagnosis and staging of lung cancer, particularly through integration with bronchoscopy and endobronchial ultrasound (EBUS). Deep learning models have been applied to modalities such as white-light imaging, autofluorescence bronchoscopy, and spectroscopy, [...] Read more.
Artificial intelligence (AI) is increasingly investigated as a potential adjunct in the diagnosis and staging of lung cancer, particularly through integration with bronchoscopy and endobronchial ultrasound (EBUS). Deep learning models have been applied to modalities such as white-light imaging, autofluorescence bronchoscopy, and spectroscopy, with the aim of assisting lesion detection, standardizing interpretation, and reducing interobserver variability. AI has also been explored in EBUS for lymph node assessment and guidance of transbronchial needle aspiration (EBUS-TBNA), with preliminary studies suggesting possible improvements in diagnostic yield. However, current evidence remains largely confined to small, retrospective, single-center datasets, often reporting performance under idealized conditions. External validation is rare, reproducibility is undermined by a lack of data and code availability, and workflow integration into real-world bronchoscopy practice has not been demonstrated. As such, most systems should still be regarded as experimental. Translating AI into routine thoracic oncology will require large-scale, prospective, multicenter validation studies, greater data transparency, and careful evaluation of cost-effectiveness, regulatory approval, and clinical utility. Full article
(This article belongs to the Special Issue Advancements in Lung Cancer Surgical Treatment and Prognosis)
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10 pages, 3939 KB  
Case Report
Panretinal Congenital Hypertrophy of the RPE in an 8-Year-Old Girl with an X-Linked STAG2 Mutation
by Maximilian D. Kong, Mohamed M. Sylla, Jin Kyun Oh, Vaidehi S. Dedania, Megan Soucy, Aykut Demirkol, Scott E. Brodie, Irene H. Maumenee and Stephen H. Tsang
J. Clin. Med. 2025, 14(17), 6110; https://doi.org/10.3390/jcm14176110 - 29 Aug 2025
Viewed by 651
Abstract
Introduction: Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a benign proliferation of the melanin-producing retinal pigment epithelium (RPE). Although often a benign and incidental finding, multifocal CHRPE may mimic lesions associated with familial adenomatous polyposis (FAP). Case Description: We [...] Read more.
Introduction: Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a benign proliferation of the melanin-producing retinal pigment epithelium (RPE). Although often a benign and incidental finding, multifocal CHRPE may mimic lesions associated with familial adenomatous polyposis (FAP). Case Description: We describe an 8-year-old girl presenting with optic disc pallor and widespread multifocal bear track CHRPE observed bilaterally on dilated fundoscopy. Fundus autofluorescence (FAF) imaging showed uniform areas of hypoautofluorescence corresponding to the bear track lesions. Spectral domain optical coherence tomography (SD-OCT) demonstrated normal lamination without atrophy. The full-field electroretinogram (ffERG) was within normal limits. Whole-genome sequencing (WGS) revealed a likely pathogenic heterozygous variant in the STAG2 gene (c.3222dup, p.Ser1075IlefsTer12). Conclusions: We present a rare case of bilateral, panretinal bear track CHRPE in a child with a likely pathogenic variant in STAG2. Using multimodal imaging, we contrast bear track lesions of the retina with FAP-associated CHRPE. We also present possible ophthalmic manifestations in carriers of pathogenic STAG2 variants. Full article
(This article belongs to the Special Issue New Clinical Advances in Macular Degeneration)
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25 pages, 4801 KB  
Article
Genotype–Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK
by Saoud Al-Khuzaei, Mital Shah, Arun Reginald, Edna Baba, Morag Shanks, Penny Clouston, Robert E. MacLaren, Stephanie Halford, Samantha R. De Silva and Susan M. Downes
Genes 2025, 16(9), 1016; https://doi.org/10.3390/genes16091016 - 27 Aug 2025
Viewed by 887
Abstract
Purpose: To investigate genotype–phenotype correlations in PRPH2-retinopathies in a cohort of 36 patients from the Oxford Eye Hospital and report on novel pathogenic variants. Methods: Clinical data, including best corrected visual acuities (BCVA), fundus autofluorescence (FAF), and optical coherence tomography (OCT) imaging, [...] Read more.
Purpose: To investigate genotype–phenotype correlations in PRPH2-retinopathies in a cohort of 36 patients from the Oxford Eye Hospital and report on novel pathogenic variants. Methods: Clinical data, including best corrected visual acuities (BCVA), fundus autofluorescence (FAF), and optical coherence tomography (OCT) imaging, were analysed. Genetic testing was performed using next-generation sequencing (NGS). Results: In this cohort, 26 different PRPH2 variants, including 8 novel variants, were identified. Variants were clustered in the D2 loop of the protein. A diverse range of phenotypes were observed: pseudo-Stargardt pattern dystrophy (PSPD) (47.2%), adult-onset vitelliform macular dystrophy (AVMD) (22.2%), pattern dystrophy (PD) (25.0%), atypical macular dystrophy (2.8%), and retinitis pigmentosa (RP) (2.8%). The mean age of symptom onset was 44.0 ± 14.4 years. Mean BCVA was 0.20 ± 0.54 logMAR OD and 0.14 ± 0.29 logMAR OS at baseline and 0.33 ± 0.40 logMAR OD and 0.32 ± 0.40 logMAR OS after a mean follow up duration of 6.0 ± 3.2 years (range 1–11 years). A thickened ellipsoid zone (EZ) was noted in 34/36 patients with a mean EZ thickness of 44.3 ± 11.3 µm OD and 42.7 ± 11.6 µm OS. No clear genotype–phenotype correlations were observed. Conclusions: The significant phenotypic range described in this study is consistent with the previously reported phenotypic variability in PRPH2 retinopathy and emphasises the complexity of establishing genotype–phenotype correlations in this disease. The thickness of the EZ on OCT may serve as a useful biomarker in distinguishing PRPH2 retinopathy from other phenocopies. These findings contribute to improved understanding of PRPH2 retinopathy and help inform diagnosis and genetic counselling. Full article
(This article belongs to the Section Human Genomics and Genetic Diseases)
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19 pages, 1288 KB  
Review
Syphilis and the Eye: Clinical Features, Diagnostic Challenges, and Evolving Therapeutic Paradigms
by Zizhen Ye, Mingming Yang, Yaru Zou, Jing Zhang, Jiaxin Deng, Yuan Zong, Kyoko Ohno-Matsui and Koju Kamoi
Pathogens 2025, 14(9), 852; https://doi.org/10.3390/pathogens14090852 - 27 Aug 2025
Viewed by 2078
Abstract
Syphilis is a systemic infection with a broad spectrum of ocular involvement that can affect every segment of the eye. Clinical presentations range from interstitial keratitis, conjunctivitis, episcleritis, and scleritis to anterior, intermediate, and posterior uveitis; acute syphilitic posterior placoid chorioretinitis; retinitis; retinal [...] Read more.
Syphilis is a systemic infection with a broad spectrum of ocular involvement that can affect every segment of the eye. Clinical presentations range from interstitial keratitis, conjunctivitis, episcleritis, and scleritis to anterior, intermediate, and posterior uveitis; acute syphilitic posterior placoid chorioretinitis; retinitis; retinal vasculitis; neuroretinitis; optic neuritis; exudative retinal detachment; and optic nerve dysfunction. These manifestations may occur at any stage of infection and are frequently nonspecific, contributing to diagnostic delays. Diagnosis requires a high index of suspicion and is established by combined non-treponemal and treponemal serologic testing, with cerebrospinal fluid analysis when neurosyphilis is suspected. Multimodal imaging, including optical coherence tomography, fluorescein angiography, fundus autofluorescence, and visual field testing, enhances the detection of subclinical and atypical diseases. Management mandates prompt intravenous penicillin G, with adjunctive corticosteroids to mitigate Jarisch–Herxheimer reactions and control inflammation; ceftriaxone or doxycycline serve as alternatives for penicillin-allergic patients. Long-term follow-up with serial serologies and neurologic evaluation is essential to detect relapse or progression to neurosyphilis. Despite effective therapy, diagnostic delays contribute to irreversible visual loss in a significant proportion of cases. This review integrates current knowledge on ocular syphilis, emphasizing its varied presentations and the importance of early recognition to prevent vision-threatening complications, and calls for multidisciplinary, mechanism-based research to optimize outcomes. We conducted a literature search in Pubmed and Embase for articles published between 2000 and 2025, using the terms “ocular syphilis,” “syphilitic uveitis,” and “neurosyphilis,” with a focus on epidemiology, clinical features, diagnostics, therapeutics, and co-infections. Full article
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51 pages, 9429 KB  
Review
Research Progress of Persistent Luminescence Nanoparticles in Biological Detection Imaging and Medical Treatment
by Kunqiang Deng, Kunfeng Chen, Sai Huang, Jinkai Li and Zongming Liu
Materials 2025, 18(17), 3937; https://doi.org/10.3390/ma18173937 - 22 Aug 2025
Viewed by 1303
Abstract
Persistent luminescence nanoparticles (PLNPs) represent a unique class of optical materials. They possess the ability to absorb and store energy from external excitation sources and emit light persistently once excitation terminates. Because of this distinctive property, PLNPs have attracted considerable attention in various [...] Read more.
Persistent luminescence nanoparticles (PLNPs) represent a unique class of optical materials. They possess the ability to absorb and store energy from external excitation sources and emit light persistently once excitation terminates. Because of this distinctive property, PLNPs have attracted considerable attention in various areas. Especially in recent years, PLNPs have revealed marked benefits and extensive application potential in fields such as biological detection, imaging, targeted delivery, as well as integrated diagnosis and treatment. Not only do they potently attenuate autofluorescence interference arising from biological tissues, but they also demonstrate superior signal-to-noise ratio and sensitivity in in vivo imaging scenarios. Therefore, regarding the current research, this paper firstly introduces the classification, synthesis methods, and luminescence mechanism of the materials. Subsequently, the research progress of PLNPs in biological detection and imaging and medical treatment in recent years is reviewed. The challenges faced by materials in biomedical applications and the outlook of future development trends are further discussed, which delivers an innovative thought pattern for developing and designing new PLNPs to cater to more practical requirements. Full article
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12 pages, 763 KB  
Article
Objective Biomarkers of Outdoor Activity (Vitamin D and CUVAF) in Young Adults with Myopia During and After the SARS-CoV-2 Pandemic
by Natali Gutierrez-Rodriguez, Miriam de la Puente-Carabot, Javier Andres Rodriguez-Hilarion, Jorge A. Ramos-Castaneda, Valentina Bilbao-Malavé, Carlos Javier Avendaño-Vasquez, Jorge Gonzalez-Zamora, Sandra Johanna Garzón-Parra and Sergio Recalde
Biomedicines 2025, 13(8), 2042; https://doi.org/10.3390/biomedicines13082042 - 21 Aug 2025
Viewed by 1710
Abstract
Background/Objectives: Intrinsic biomarkers, such as serum vitamin D levels and the conjunctival ultraviolet autofluorescence (CUVAF) area, have been proposed to quantify sunlight exposure. Evidence suggests that reduced outdoor activity during the SARS-CoV-2 pandemic accelerated the progression of myopia; however, there is little [...] Read more.
Background/Objectives: Intrinsic biomarkers, such as serum vitamin D levels and the conjunctival ultraviolet autofluorescence (CUVAF) area, have been proposed to quantify sunlight exposure. Evidence suggests that reduced outdoor activity during the SARS-CoV-2 pandemic accelerated the progression of myopia; however, there is little information on the impact of such restrictions on vitamin D levels and CUVAF area in populations with myopia. This study aims to assess the association between serum vitamin D levels and conjunctival ultraviolet autofluorescence area (CUVAF) in young adults with myopia during and after the pandemic, as well as its relationship with sun exposure habits and the use of skin protection measures. Methods: A prospective observational study was carried out. A total of 59 students participated, 32 with a diagnosis of myopia and 27 controls, during SARS-CoV-2 pandemic. Two serological tests for total 25-hydroxy vitamin D (D2 + D3) (Calciferol) were taken, activity habits and sun exposure were identified using the Intermountain Live Well Institute tool, and CUVAF images were taken post-pandemic. Results: In the 59 participants, we observed similar vitamin D concentrations between the myopic and control groups during and after the pandemic. However, analysis of CUVAF areas after the pandemic revealed that myopes had significantly smaller areas compared to controls (p < 0.05). Conclusions: The study demonstrated that using vitamin D as a biomarker for outdoor activity requires additional investigation; the CUVAF biomarker showed a significant association with myopia. Full article
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