Search Results (215)

People with C3 Dense Deposit Disease (C3DDD), a rare autoimmune disease, often also have ocular complications. Due to the rarity of this disease, there is little known about ocular complications in populations across the world. This paper aimed to assess literature on retinal complications in people with C3 Dense Deposit Disease. A scoping review was conducted and three databases (Embase, Medline All, and Web of Science) were searched using agreed search terms and Boolean operators. All references were imported into Covidence for screening by two reviewers. Any conflicts were resolved by a third reviewer. Data were extracted into an Excel spreadsheet and analysis was conducted using SPSS Version 29. After full text screening, 38 studies were included in the review. These studies were from 1990–2023 and most (67%) being case reports. All studies were conducted in the United States (55%) or Europe (45%). Most studies reported drusen-like deposits in the retina (75%) and retinal pigment epithelial detachment (18%) and macular atrophy (11%). Choroidal Neovascularisation (CNV) was found in 16% of cases. People with C3 Dense Deposit Disease are at risk of ocular complications, primarily drusen-like deposits. Further population-based research and progression is needed. Full article

Background: Radiation maculopathy (RM) is a delayed, sight-threatening complication of ocular radiotherapy. Traditionally regarded as a pure microvascular disease, emerging evidence points to the central role played by retinal neuroinflammation, driven by microglial activation and cytokine dysregulation affecting both the retina and the choroid. Hyperreflective retinal foci, neuroinflammatory in origin (I-HRF), visualized through advanced imaging modalities such as spectral domain optical coherence tomography (OCT), have been identified as early and critical biomarkers of both preclinical and clinical retinal neuroinflammation. Materials and Methods: This review synthesizes findings from experimental and clinical studies to explore the pathophysiology of neuroinflammation and the associated imaging parameters in RM. Results: The integration of experimental and clinical evidence specifically underscores the significance of I-HRF as an early indicator of neuroinflammation in RM. OCT enables the identification and quantification of these biomarkers, which are linked to microglial activation and cytokine dysregulation. Conclusions: The pathophysiology of RM has evolved from a predominantly vascular condition to one strongly secondary to neuroinflammatory mechanisms involving the retina and choroid. In particular, I-HRF, as early biomarkers, offers the potential for preclinical diagnosis and therapeutic intervention, paving the way for improved management of this sight-threatening complication. Full article

Background/Objectives: This study aimed to prospectively assess the incidence of retinal embolization and to evaluate the vascular and structural changes in the retina and choroid in 52 patients with asymptomatic severe carotid artery disease who underwent carotid artery revascularization. Methods: In our study, 35 patients underwent carotid endarterectomy (CEA) and 17 underwent carotid artery stenting (CAS). Biomicroscopy, fundoscopy, optical coherence tomography (OCT), and OCT-angiography (OCTA) were performed at baseline and 1 month after revascularization. Results: The subfoveal choroidal thickness (SFCT), peripapillary choroidal thickness inferior to the optic nerve head (ppCTi), total overall average retinal vascular density (rVDtot), and total overall average choriocapillaris vascular density (ccVDtot) of the eyes ipsilateral to the operated carotid artery increased significantly after revascularization, whereas a statistically significant increase was also found in the SFCT, rVDtot, and ccVDtot of the contralateral eyes in the overall cohort. Comparing the two study groups, we found that the SFCT, superior and inferior peripapillary choroidal thicknesses (ppCTs, ppCTi), rVDtot, and ccVDtot increased in both groups after revascularization, but significantly only in the CEA group. Furthermore, the temporal choriocapillaris vascular density (ccVDt) increased significantly after revascularization in both groups to a similar degree. Conclusions: Carotid artery revascularization led to a statistically significant increase in retinal and choroidal vascular densities, which indicates significantly improved ocular perfusion. The analysis of the findings of the two study groups suggests the superiority of CEA in terms of improving ocular perfusion in asymptomatic severe carotid artery disease. The rate of retinal embolization was similar in both surgical groups. Full article

Age-related macular degeneration (AMD) is a progressive retinal disorder and a leading cause of irreversible blindness among elderly individuals, impacting millions of people globally. This review synthesizes the current understanding of the cellular and molecular signaling mechanisms driving AMD, with a focus on the distinct pathophysiological features of dry and wet AMD subtypes. Key mechanisms include oxidative stress, inflammation, lipid metabolism dysregulation, and immune dysregulation, all of which converge on the retinal pigment epithelium (RPE) as a central player in disease initiation and progression. In dry AMD, oxidative damage, mitochondrial dysfunction, and lipofuscin accumulation impair RPE function, contributing to drusen formation and geographic atrophy. In wet AMD, vascular endothelial growth factor-mediated angiogenesis, coupled with inflammation and endothelial metabolic reprogramming, drives choroidal neovascularization. This article integrates findings from multiomics approaches and highlights the potential of artificial intelligence in elucidating AMD pathogenesis and advancing personalized therapies. Future research directions emphasize targeting these molecular pathways to develop innovative treatments, offering hope for improved management of this debilitating condition. Full article

Background/Objectives: Inherited retinal diseases (IRDs) are a heterogeneous group of rare eye disorders characterized by progressive photoreceptor degeneration, leading to severe visual impairment or even blindness. This study aims to investigate the prevalence, types, and clinical significance of ophthalmic comorbidities in Portuguese patients with IRDs. Methods: This nationwide Portuguese population-based retrospective study was based on the IRD-PT registry (retina.com.pt). Statistical analysis was conducted using Microsoft^® Excel^® for Microsoft 365 and IBM SPSS Statistics version 29.0.2.0. Informed consent was obtained from all participants. Results: A total of 1531 patients (1254 families) from six centers were enrolled. The cohort consisted of 51% males, with a mean age of 45.8 ± 19.3 years and a mean age at diagnosis of 39.4 ± 19.5 years. Overall, ocular comorbidities were reported in 644 patients (42.1%). In 176 individuals (11.5%), multiple concurrent comorbidities were found. Cataract was the most common comorbidity (21.3%), followed by amblyopia (6.3%) and high myopia (5.9%). Statistically significant associations with ocular comorbidities were observed in isolated progressive IRDs. Specifically, AR RP was associated with cataract (p < 0.001), and gene analysis revealed several significant associations. CRB1 was statistically linked to epiretinal membrane (ERM) (p = 0.003), EYS with cataract (p = 0.001), PROM1 with choroidal neovascularization (CNV) (p = 0.0026), and USH2A with macular hole (p = 0.01). Patients with the RPE65 mutation in Leber congenital amaurosis were associated with ERM (p = 0.019). There was also a significant association between X-linked RP and high myopia (p < 0.001) and CNV in Best disease (p < 0.001); in syndromic IRDs, cataract, cystoid macular edema, and ERM were observed in Usher syndrome, p = 0.002, p = 0.002, and p = 0.005, respectively, and the MYO7A gene was linked to cataract (p = 0.041) and strabismus (p = 0.013); pseudoxanthoma elasticum was significantly associated with CNV (p = 0.002); and foveal hypoplasia was associated with anterior segment dysgenesis (p < 0.001). Conclusions: This study enhances the current understanding of ocular comorbidities in IRDs in Portuguese patients. Common findings were cataract, refractive error, and CME. Stationary IRDs and pattern dystrophies showed fewer concomitant comorbidities, supporting their classification as non-progressive or benign conditions. The significance of registries like IRD-PT cannot be overstated, particularly in the context of rare diseases. These databases serve multiple crucial functions in enabling detailed documentation of disease characteristics and long-term monitoring of disease progression. Full article

Objective: This study aimed to investigate the structural, vascular, and biochemical alterations in patients with pseudoexfoliation syndrome (PES) and pseudoexfoliative glaucoma (PXG) and to evaluate the associations between serum biomarkers, the retinal nerve fiber layer (RNFL), choroidal thickness (CT), and vessel density (VD) in these groups. Methods: All subjects underwent spectral-domain optical coherence tomography (SD-OCT) and OCT angiography (OCTA) to assess RNFL thickness, CT, and VD. Serum levels of inflammatory and oxidative stress biomarkers—including malondialdehyde (MDA), glutathione (GSH), interleukin-6 (IL-6), nitric oxide (NO), inducible NO synthase (iNOS), galectin-3, and SCUBE-1—were analyzed, and regression and ROC curve analyses were performed to evaluate predictive value and diagnostic performance. Results: A total of 80 patients were included and are listed as follows: 25 controls, 30 with PES, and 25 with PXG. There were no significant differences among groups in terms of age or gender. RNFL thickness, CT, and VD were significantly reduced in the PXG group compared to the PES and control groups (p < 0.001). PXG patients showed the most pronounced reductions in both peripapillary and macular CT, as well as superficial and deep VD. Serum iNOS, SCUBE-1, galectin-3, and MDA levels were significantly elevated in PXG, while GSH levels were lower (p < 0.001); NO levels showed no significant differences. In the PES and PXG groups, several ocular parameters correlated significantly with serum biomarkers, particularly iNOS, MDA, and GSH. Regression analysis in PXG patients identified iNOS and MDA as significant predictors of RNFL thickness and VD. ROC analysis demonstrated that MDA and GSH exhibited the highest diagnostic accuracy among the tested biomarkers for distinguishing PXG patients from controls. Conclusions: PXG is associated with significant structural, vascular, and biochemical alterations, including reduced RNFL thickness, choroidal thinning, and decreased VD. Altered serum levels of MDA and GSH were significantly associated with these ocular changes and demonstrated the highest diagnostic accuracy among the biomarkers evaluated. These findings support their potential utility as non-invasive biomarkers for distinguishing PXG from PES and healthy controls and for monitoring disease progression. Full article

Artificial intelligence (AI) is reshaping precision medicine by revealing diagnostic links between ocular biomarkers and systemic musculoskeletal disorders. This review synthesizes clinical evidence on the associations between optical coherence tomography (OCT)-derived parameters, such as retinal nerve fiber layer (RNFL) thinning and choroidal thickness, and conditions including osteoporosis, cervical spine instability, and inflammatory arthritis. The findings, based on an analysis of studies that integrate AI with ocular and musculoskeletal imaging, highlight consistent correlations between ocular microstructural changes and systemic degenerative pathologies. These results suggest that the eye may serve as a non-invasive window into biomechanical dysfunction. This review also discusses the emerging role of AI-assisted surgical systems informed by ocular metrics. Overall, AI-driven ocular analysis offers a promising avenue for early detection and management of musculoskeletal disease, supporting its clinical relevance and interdisciplinary potential. Full article

Vascular endothelial growth factor (VEGF) plays a key role in angiogenesis throughout the human body, influencing countless physiological and pathological processes, including tumor growth, preeclampsia, and retinal diseases such as diabetic retinopathy (DR) and age-related macular degeneration (AMD). In DR, VEGF promotes retinal neovascularization and intraretinal fluid accumulation, leading to complications like diabetic macular edema (DME) and proliferative diabetic retinopathy (PDR). Regular intravitreal anti-VEGF injections are commonly used to manage PDR and DME, though repeated treatments are often required, and efficacy can be limited. AMD, a major cause of vision loss in older adults, is characterized by either dry or wet forms. While the dry form has not been shown to be influenced by VEGF, the choroidal neovascularization of wet AMD has strong associations with VEGF. Current treatment for wet AMD consists primarily of anti-VEGF injections, the gold standard of care, but is limited by varying patient responses, as treatments are often repeated every 4-8 weeks indefinitely. This review explores the pathogenic role of VEGF in both DR and AMD, discussing the molecular mechanisms underlying these diseases and the therapeutic approaches targeting VEGF. Despite advancements, the variability in treatment responses highlights the need for continued research to develop more effective therapies to prevent vision loss and blindness associated with these retinal diseases. Full article

Background/Objectives: This study aimed to analyze optic nerve parameters, retinal nerve fiber layer thickness (RNFLT), ganglion cell layer thickness (GCLT), and subfoveal choroidal thickness (ChT) in patients who have recovered from coronavirus disease 2019 (COVID-19). Methods: This comparative study included 78 recovered COVID-19 patients (16 men, 62 women) and 56 age- and sex-matched healthy controls (18 men, 38 women). COVID-19 was confirmed in all patients, either through the detection of viral RNA in nasopharyngeal swabs via reverse transcriptase polymerase chain reaction or by serological testing for SARS-CoV-2 antibodies. Spectral-domain optical coherence tomography (SD-OCT) was used to assess optic nerve parameters, RNFLT, GCLT, and ChT. Results: The mean age was 35.0 ± 8.3 years in the COVID-19 group and 31.5 ± 8.3 years in the control group, with no statistically significant differences in age or sex distribution between groups (p = 0.41 and p = 0.16, respectively). Optic nerve parameters and RNFLT (overall and across the four peripapillary quadrants) did not differ significantly between the COVID-19 and control groups. However, the mean ganglion cell–inner plexiform layer (GC-IPL) thickness was significantly reduced in all quadrants in the COVID-19 group compared to the controls. No significant difference was observed in mean subfoveal ChT between groups. Conclusions: A significant reduction in ganglion GCLT was observed in recovered COVID-19 patients compared to healthy controls, suggesting a potential neurodegenerative effect of the disease on the optic nerve. Full article

Background and Objectives: Uveitis-masked syndromes or masquerade syndromes (UMSs) are a group of ocular conditions with several systemic underlying causes, malignant or nonmalignant, that mimic the inflammatory status of the uvea. They are often difficult to detect and diagnose with traditional techniques, such as ophthalmic exams. Ocular B (bidimensional)-ultrasound (OBU) is a non-invasive, repeatable, rapid ultrasound method effective in indirect signs that lead back to systemic diseases. It is comparable in effectiveness with other imaging tools. The cause of UMSs can often be serious, and therefore early diagnosis and prompt treatment are critical. This study aimed to identify the sonographic signs of these forms, which can help physicians discover the cause underlying UMS. Materials and Methods: This was a consecutive, retrospective, nonrandomized study. This study was conducted at the University Hospital Polyclinic of Bari, Italy, from January 2022 to December 2024. A total of 186 patients were included, from 10 to 85 years old. They all underwent B-scan ultrasonography (Quantel Medical ABSolu Ocular Ultrasound). Results: All patients reported blurred vision, which could be accompanied by visual reduction (<20/40, Snellen charts), photophobia, floaters, flashes, proptosis, and redness. In all cases, we noted peculiar ultrasonographic signs, which allowed us to discriminate the underlying systemic diagnosis, such as vitreous corpuscles, choroid thickening, and primitive or metastatic solid tumors. Finally, we identified different diseases, such as primary intraocular lymphoma (PIOL), other lymphoproliferative conditions, orbital plasmacytoma, uveal melanoma, metastasis, endogenous endophthalmitis, retinal detachment, central serous retinopathy, metallic foreign bodies, ocular amyloidosis, and drug-induced UMSs. The sensitivity and specificity of ocular ultrasound compared to multimodal ocular imaging in UMSs were as follows: for primary intraocular lymphoma (PIOL) and other lymphoproliferative conditions, 0.98 (95% CI, 0.80–1) and 0.68 (90% CI, 0.40–0.92), respectively; for orbital plasmacytoma, 0.64 (92% CI, 0.52–0.86) and 0.66 (93% CI, 0.48–0.89), respectively; uveal melanoma, 1.00 (98% CI, 0.88–1.00) and 0.98 (95% CI, 0.86–0.98), respectively; metastasis, 0.75 (95% CI, 0.53–0.85) and 0.85 (95% CI, 0.48–0.98), respectively; endogenous endophthalmitis, 1.00 (95% CI, 0.50–1.00) and 0.83 (95% CI, 0.48–0.98), respectively; retinal detachment, both were 1.00 (95% CI, 0.87–1.00 and 0.84–0.97, respectively); central serous retinopathy, 0.60 (80% CI, 0.41–0.88) and 0.85 (95% CI, 0.52–0.98), respectively; metallic foreign bodies, 1.00 (95% CI, 0.78–1.00) and 0.99 (95% CI, 0.99–1.00), respectively; ocular amyloidosis, 0.77 (82% CI, 0.52–0.90) and 0.83 (80% CI, 0.49–0.88), respectively; and drug-induced UMSs, 0.64 (95% CI, 0.49–0.88) and 0.85 (95% CI, 0.52–0.98), respectively. Conclusions: Diagnosing UMS accurately can be quite challenging, and many of its different types frequently go undetected. This complexity in identification often leads to underdiagnosis, meaning it is essential to improve awareness and understanding of the condition in order to achieve better recognition and treatment. Early detection of these forms is imperative. The use of OBU can help diagnose indirect signs of these forms early and treat them promptly. It compares well with other diagnostic imaging techniques, such as MRI, but this does not mean that it replaces them; it can offer added value in multimodal imaging. Full article

Vascular endothelial growth factor (VEGF) is a key mediator of exudative age-related macular degeneration (eAMD), yet non-invasive biomarkers for disease monitoring remain limited. This study evaluates VEGF levels in human tear fluid as a potential biomarker for eAMD and investigates the molecular dynamics of VEGF in a laser-induced choroidal neovascularization (lCNV) mouse model. Tear VEGF levels were quantified using proximity qPCR immunoassays in eAMD patients (n = 29) and healthy controls (n = 21) and correlated with optical coherence tomography (OCT) findings. Molecular analyses, including immunohistochemistry, gene expression profiling, and phosphorylation assays, were conducted on choroid–retinal pigment epithelium (RPE) and lacrimal gland (LG) tissues from lCNV mice (n = 25). Tear VEGF levels were significantly elevated in eAMD patients, correlating with disease severity. Females exhibited higher VEGF levels, a pattern not replicated in the mouse model. In lCNV mice, VEGF overexpression originated from the choroid–RPE, driven by hypoxic and inflammatory signaling, with no significant LG contribution. Increased VEGF, IL-6, and vimentin expression, along with NF-κB and STAT3 activation, were observed. These findings suggest that tear VEGF is a promising non-invasive biomarker for eAMD, warranting further validation for clinical application in disease monitoring and treatment optimization. Full article

Retina, a light-sensitive layer of tissue of the eye, requires high levels of oxygen for its physiology. Retinal ischemia occurs due to inadequate supply of blood to the retina and choroid. Retinal ischemia is implicated in the development or progression of many ocular diseases, such as diabetic retinopathy (DR) and age-related macular degeneration (AMD). To date, anti-vascular endothelial growth factor (VEGF) treatment has been widely used to manage neovascular diseases associated with retinal ischemia. Nonetheless, a substantial number of patients with DR or AMD still suffer from incomplete response and adverse effects related to its therapy with limitations. Therefore, research scientists have been developing and finding novel treatments to protect against or prevent vision loss in those diseases. In this review article, we summarize the recent novel therapeutic approaches for the treatment of ischemic retinopathy (e.g., cell therapy, advanced molecular targeting, or drug delivery). This summary enables further research to obtain more solid evidence of novel effective drug development in retinal ischemic diseases. Full article

Background: The aim of the study was to assess retinal circulation in military pilots, as well as to determine the relationship between the type of aircraft, flight altitude, total hours of flight time and parameters of retinal circulation, using OCT angiography (OCT-A). Methods: This cross-sectional study enrolled 44 military pilots and 44 controls. The inclusion criteria encompassed healthy adult men. Due to the fact that military pilots cannot suffer from any vision defects or any other eye disease, the exclusion criteria concerned the control group and included refractive error exceeding −3 diopters (D) and +3 D and concomitant eye diseases, such as any retinal or choroidal pathologies, glaucoma, uveitis. The exclusion criteria for both groups were low-quality OCT-A images. Subsequently, the results of the measurements obtained for 176 eyes were included in further descriptive and multivariate analyses, of which 88 were in the pilot group versus 88 in the comparison group. Results: The total vessel density in superficial and deep capillary plexuses was significantly decreased (p = 0.0176, p < 0.0001, resp.) the longer the flight experience, particularly in the parafoveal region (p = 0.0299 and p < 0.0001, resp.). Moreover, the foveal avascular zone area was significantly increased proportionally to the total hours of flight (p = 0.0083). Also, the total vessel density was increased with a higher flight altitude in the deep capillary plexus (p = 0.0042), especially in the parafoveal region (p = 0.0110). Conclusions: Gravitational forces manifesting in the unique conditions of the flight of military pilots seem to induce microvascular changes in the retina. Full article

Backgrounds: Photodynamic therapy (PDT) is an established treatment modality in central serous chorioretinopathy (CSCR). The goal of our study was to evaluate the morphological and functional effects of PDT in patients with long-lasting CSCR and determine the related predictive factors for improvement. Methods: This retrospective analysis included consecutive patients with chronic CSCR who consented to PDT. The material comprised 98 eyes of 81 patients (67 males and 14 females) with a disease duration longer than 6 months followed for 6 months post treatment. All patients underwent a basic ophthalmological examination including best corrected visual acuity (BCVA) testing and imaging, spectral-domain optical coherence tomography (SD-OCT), and fluorescein angiography. Patients without macular neovascularization (MNV) were subjected to half-dose PDT (3 mg/m²) with standard fluence (50 J/cm²), guided by indocyanine green angiography. Cases complicated by MNV were subjected to full-dose PDT. Results: A morphological response, defined as complete resolution of subretinal fluid, was achieved in 76.29% of cases, and an improvement in BCVA of at least one logMAR line was obtained in 77.53% of cases. The mean BCVA gain was 1.2 logMAR line. All SD-OCT measurements (central retinal thickness, macular volume, mean subfield thickness, subretinal fluid height, and subfoveal choroidal thickness) showed a significant reduction post PDT. A multivariate analysis proved better morphological outcome associations with a younger age and male gender and better visual gains achieved in patients without intraretinal abnormalities. Univariate testing also showed strong relationships between better baseline BCVA and greater functional and morphological improvements, between shorter disease duration and morphological gains, and between the absence of MNV or intraretinal abnormalities and morphological gains. PDT was highly effective in providing a resolution of pigment epithelial detachment (p = 0.0004). The observed effect was significantly dependent upon the lower baseline central retinal thickness (p = 0.0095). Patients with intraretinal abnormalities or MNV showed moderate improvements post PDT. Conclusions: PDT in long-lasting CSCR cases provides good morphological results but generally minor visual gains. Patients’ expectations of significant increases in BCVA after prolonged disease with distinct alterations of the neurosensory retina should be managed. Full article

Optical coherence tomography angiography (OCTA) is an advanced non-invasive imaging technique that can generate three-dimensional images of retinal and choroidal vessels. It is of great value in the diagnosis and monitoring of a variety of ophthalmic diseases. However, most existing methods for blood vessel segmentation in OCTA images rely on an encoder–decoder architecture. This architecture typically involves a large number of parameters and leads to slower inference speeds. To address these challenges and improve segmentation efficiency, this paper proposes a lightweight full-resolution convolutional neural network named FRNet V2 for blood vessel segmentation in OCTA images. FRNet V2 combines the ConvNeXt V2 architecture with deep separable convolution and introduces a recursive mechanism. This mechanism enhances feature representation while reducing the amount of model parameters and computational complexity. In addition, we design a lightweight hybrid adaptive attention mechanism (DWAM) that further improves the segmentation accuracy of the model through the combination of channel self-attention blocks and spatial self-attention blocks. The experimental results show that on two well-known retinal image datasets (OCTA-500 and ROSSA), FRNet V2 can achieve Dice coefficients and accuracy comparable to other methods while reducing the number of parameters by more than 90%. In conclusion, FRNet V2 provides an efficient and lightweight solution for fast and accurate OCTA image blood vessel segmentation in resource-constrained environments, offering strong support for clinical applications. Full article