Search Results (1,217)

Background: Graft-versus-host disease is the most common complication after allogeneic hematopoietic stem cell transplantation. While ocular graft-versus-host disease typically manifests as dry eye syndrome and anterior segment involvement, posterior segment complications are rare. Previously reported posterior segment complications in graft-versus-host disease have been limited to acute presentations with significant functional visual impairment. Methods: A 41-year-old man developed progressive retinal nerve fiber layer and ganglion cell layer loss four years after allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia. The patient had established chronic graft-versus-host disease with cutaneous involvement and ocular surface disease. Results: Despite preserved visual acuity and visual fields, and only subtle functional involvement on visual evoked potentials, optical coherence tomography revealed significant reduction in retinal nerve fiber layer thickness and ganglion cell layer. Magnetic resonance imaging showed no optic nerve or brain abnormalities. Conclusions: This case describes an uncommon presentation of chronic, subclinical posterior segment involvement in chronic GVHD and suggests that optical coherence tomography may detect progressive structural retinal changes in the absence of clinically evident visual impairment, supporting its potential role in longitudinal monitoring. Full article

Most glaucoma genetic data derive from European and East Asian cohorts, leaving high-consanguinity Middle Eastern populations under-characterized. This review synthesizes 33 Saudi-specific genetic studies (2014–2024, >9000 participants) to define a population-level glaucoma genetic architecture that diverges substantially from global models and carries direct precision medicine implications. Three findings distinguish the Saudi landscape. First, CYP1B1 functions as the dominant causal gene across both primary congenital glaucoma (PCG) and juvenile-onset open-angle glaucoma (JOAG), accounting for 76–86% of cases, with two founder alleles, p.G61E (penetrance 87.7%) and p.R469W (penetrance 93%), driving severe, early-onset phenotypes. Critically, MYOC and LTBP2, the primary JOAG genes in other populations, carry no pathogenic variants in Saudi cohorts, rendering standard multi-ethnic gene panels inadequate for this population. Second, adult-onset glaucoma follows a distinct polygenic architecture where APOE ε2 confers a near five-fold risk for primary angle-closure glaucoma (OR = 4.82), an effect absent or inconsistent in global datasets, and NOS3 variants associate with primary open-angle glaucoma specifically in men, a sex-stratified signal unreported outside Saudi cohorts. The MTHFR T/T genotype, common in European and Asian POAG patients, is entirely absent locally, indicating population-specific allelic distributions that alter folate-metabolism-related optic nerve susceptibility. Third, ACVR1 rs12997 associates across POAG, PACG, and pseudoexfoliation glaucoma (PXG), positioning BMP/TGF-β signaling as a shared mechanistic pathway spanning multiple subtypes. These findings argue for Saudi-specific genetic panels, CYP1B1-centered cascade testing in consanguineous families, and polygenic risk models incorporating local allele frequencies rather than globally derived weights. Full article

Ocular tilt reaction (OTR) and trochlear nerve palsy (TNP) can induce cyclotorsion. We aimed to assess the utility of fundus photography in distinguishing between these disorders. The database of a neuro-ophthalmology hospital-based clinic was retrospectively searched for patients referred for new-onset vertical diplopia between 2020 and 2023. Medical data were collected, and the angle between the optic disc and fovea was measured using ImageJ software to quantify torsion. Distinct torsional patterns were identified between the groups. OTR was characterized by variable, often conjugate torsion, whereas TNP demonstrated consistent disconjugate extorsion. Analysis of interocular torsional relationships, rather than magnitude alone, provided useful diagnostic discrimination. Fundus photography may be useful for differentiating OTR from TNP in complicated neurological cases, particularly in patients who are difficult to examine. This study emphasizes the practical clinical value of fundus photography as a simple, accessible, and objective tool for differentiating OTR from TNP, by contributing the torsional component of OTR triad, particularly in emergency or diagnostically challenging settings where standard examination may be limited. Full article

Optic neuropathy represents a leading cause of irreversible vision loss, in which oxidative stress, chronic inflammation, dysregulated lipid metabolism, and mitochondrial dysfunction contribute to the progressive degeneration of retinal ganglion cells (RGCs). In recent years, a number of nutraceuticals have been investigated as potential neuroprotective agents; however, the molecular mechanisms through which they exert their effects remain incompletely understood and are often considered in isolation. In the present in silico study, an integrative network-based approach was applied for a systematic analysis of the predicted molecular targets of selected nutraceuticals with antioxidant and anti-inflammatory potential. By combining target prediction, protein–protein interaction analysis, and functional enrichment, their functional convergence was assessed in the context of optic nerve pathophysiology. The results indicate that, despite their chemical and functional heterogeneity, the investigated nutraceuticals do not act through fully independent mechanisms but instead converge on interconnected regulatory axes. In particular, lipid–inflammatory signaling, epigenetic and stress-adaptive mechanisms, as well as nuclear-receptor mediated transcriptional regulation emerged as key pathways. These pathways form integrated molecular models potentially determining cellular susceptibility to injury and the adaptive capacity of RGCs. In conclusion, the present analysis provides a systems-level framework for understanding the neuroprotective potential of nutraceuticals, highlighting the importance of network convergence and multi-target activity. The obtained results support the conceptual shift from isolated antioxidant strategies towards integrative, network-oriented approaches in the study of optic neuropathy. Full article

Background/Objectives: To evaluate the short-term effects of direct selective laser trabeculoplasty (DSLT) on retinal nerve fiber layer (RNFL) and ganglion cell layer (GCL) thickness in patients with ocular hypertension (OHT) and primary open-angle glaucoma (POAG). Methods: This retrospective, single-center study included 45 eyes of 45 patients with OHT or POAG who underwent DSLT at Shaare Zedek Medical Center between February 2024 and February 2025. The primary outcome was the change in RNFL and GCL thickness, as measured by spectral-domain optical coherence tomography (SD-OCT) before and two months after treatment. Secondary outcomes included intraocular pressure (IOP) reduction, corrected distance visual acuity (CDVA), and safety. Only high-quality OCT scans (quality score > 25) were included in the analysis. Results: OCT analysis revealed no statistically significant changes in the inner retinal structure two months post-treatment. The mean RNFL thickness was 77.1 ± 17.2 µm at baseline and 77.4 ± 17.3 µm at follow-up (p = 0.285). The mean GCL thickness remained unchanged (42.4 ± 11.6 µm vs. 42.4 ± 11.3 µm, p = 0.750). CDVA remained stable (0.2 ± 0.4 vs. 0.2 ± 0.4 logMAR; p = 0.351), and no vision-threatening complications were observed. Mean IOP decreased significantly from 19.7 ± 4.0 mmHg at baseline to 16.2 ± 3.5 mmHg at two months (p < 0.001). The mean total laser energy delivered was 196.5 ± 10.2 mJ (range: 176–210 mJ). Conclusions: DSLT was not associated with significant short-term changes in RNFL or GCL thickness, supporting its structural safety in patients with OHT or glaucoma. Further long-term studies are warranted to determine the durability of these findings and the potential neuroprotective effects of DSLT. Full article

Background: Primary open-angle glaucoma (POAG) is a leading cause of irreversible blindness worldwide, characterized by progressive optic nerve degeneration and marked molecular heterogeneity. Increasing evidence indicates that metabolic dysregulation and immune remodeling contribute to POAG pathogenesis; however, the underlying regulatory networks and reliable diagnostic biomarkers remain incompletely defined. Methods: Bulk transcriptomic and single-cell RNA sequencing (scRNA-seq) datasets of trabecular meshwork tissues were retrieved from Gene Expression Omnibus (GEO). Differential expression analysis and weighted gene co-expression network analysis (WGCNA) were performed to identify disease-associated modules. A machine learning framework was applied to construct classification models. Estimated immune-cell fractions were assessed using CIBERSORT, followed by pathway and transcription factor analyses. Single-cell analysis was conducted to examine the cell type-specific expression patterns. Results: A total of 195 differentially expressed genes were identified between POAG and control samples. WGCNA revealed a lactylation-related module strongly correlated with disease status. Machine learning identified S100A2 and S100A14 as candidate diagnostic biomarkers with consistent classification performance across datasets. Immune infiltration analysis suggested alterations in the immune microenvironment in POAG. Single-cell data showed that the model genes exhibited sparse but non-uniform expression across cell populations. Conclusions: This integrative analysis prioritizes S100A2 and S100A14 as candidate diagnostic biomarkers for POAG and indicates potential associations with immune-metabolic regulatory mechanisms. Full article

Background: Retinal and optic nerve disorders are a leading cause of irreversible visual impairment worldwide. Advances in molecular genetics—including next-generation sequencing, genome-wide association studies, and gene-based therapeutic technologies—have reshaped understanding of both inherited and complex retinal diseases. However, translating genetic discovery into sustained clinical benefit remains biologically and practically constrained. Methods: A structured literature search was conducted using PubMed and Scopus to identify relevant studies published between 2015 and 2025. The search focused on molecular genetics, epigenetic modulation, mitochondrial biology, and translational applications in inherited retinal dystrophies and selected complex retinal diseases, prioritizing high-impact original research and systematic reviews addressing diagnostic innovation and therapeutic development. Results: Inherited retinal dystrophies represent the most advanced model of precision ophthalmology, with diagnostic yields approaching 70–80% in well-characterized cohorts. Gene augmentation and genome-editing strategies have demonstrated proof-of-concept efficacy, yet clinical benefit depends on residual cellular viability, delivery efficiency, and durability of expression. Emerging platforms include AAV-mediated gene transfer, in vivo CRISPR-based editing, RNA-directed splice modulation, and mitochondrial-targeted approaches. Persistent barriers include unresolved non-coding and structural variants, variant interpretation uncertainty, and endpoint selection in clinical trials. In contrast, complex retinal diseases such as glaucoma, age-related macular degeneration, and pathological myopia reflect polygenic susceptibility interacting with environmental and aging-related factors. Although polygenic risk scores refine probabilistic prediction, their utility is limited by ancestry bias and incomplete predictive performance. Epigenetic and mitochondrial mechanisms further modulate disease expression but remain largely non-actionable in routine practice. Conclusions: Retinal genetics has progressed from gene discovery to early therapeutic implementation. Future advances will depend on improved variant detection, functional validation, biomarker-guided staging, and integration of genomics with imaging and longitudinal modeling to achieve durable and equitable precision ophthalmology. Full article

Introduction: Optical coherence tomography (OCT) is the gold standard for retinal nerve fibre layer (RNFL) assessment; its high cost and limited accessibility hinder widespread use. This study aims to develop deep learning models that generate RNFL thickness maps from fundus images, providing a cost-effective alternative to OCT. Methods: A dataset of 5000 fundus-OCT image pairs from 5000 unique glaucoma patients was used to train and compare the following four U-Net-based deep learning models: ResU-Net, R2U-Net, Nested U-Net, and Dense U-Net. All models were trained for up to 1000 epochs with early stopping (patience = 50 epochs). Performance was evaluated using Mean Squared Error (MSE), Mean Absolute Error (MAE), Peak Signal-to-Noise Ratio (PSNR), Structural Similarity Index Measure (SSIM), and Fréchet Inception Distance (FID). Results: ResU-Net demonstrated the best performance, achieving MSE = 0.00061, MAE = 0.01877, SSIM = 0.9163, PSNR = 32.19 dB, and FID = 30.08. These results represent a 108% improvement in SSIM and a 67% improvement in PSNR compared to previously published benchmark for this task. Conclusions: This study demonstrates that deep learning models, particularly ResU-Net, can generate high-fidelity RNFL thickness maps from fundus photographs, substantially outperforming prior published benchmarks. This approach represents a potential contribution toward accessible glaucoma assessment, contingent upon prospective clinical validation and regulatory evaluation. Full article

Background and Objectives: Optic disc drusen (ODD) are deposits in the optic nerve head that can look like true swelling, and in some patients, slowly damage the optic nerve and cause visual field loss. We aimed to identify which eyes are most likely to worsen over time using common clinic tests. Methods: We studied 131 adults with OCT-confirmed ODD who also had OCT-angiography (a scan that measures small blood vessels around the optic nerve) and repeated visual field tests over at least 18 months. We measured (1) the size of the drusen (maximum drusen height), (2) blood vessel density around and inside the optic nerve, and (3) change in visual field performance over time. “Fast progression” was defined as visual field worsening of ≥0.5 dB per year. Results: Eyes with superficial ODD had larger drusen than buried ODD (382.6 ± 110.9 vs. 247.2 ± 92.8 µm; p < 0.001) and more frequent visual field defects (78.6% vs. 58.7%; p = 0.02). When blood vessel density around the optic nerve was low, fast progression was much more common (52.3%) than in the middle (16.3%) or highest groups (13.6%; p < 0.001). In the adjusted model, fast progression was more likely with superficial ODD (OR 6.3) and larger drusen (OR 2.0 per 100 µm), and less likely when the vessel density was higher (OR 0.8 per 1% increase). Adding the vessel measurements improved the prediction accuracy (AUC 0.8 → 0.9; p = 0.011). Conclusions: Combining drusen size and blood vessel measurements helps identify ODD patients at higher risk of faster visual field loss and may guide closer follow-up. Full article

Glaucoma, characterized by progressive retinal ganglion cell degeneration and optic nerve damage, is the leading cause of irreversible blindness worldwide. Multiple risk factors influence the pathogenesis and progression of glaucoma. Food-derived bioactive components have emerged as a new area of interest to overcome the limitations of current standard treatments due to their antioxidant and anti-inflammatory activities and multi-target mechanisms. In this context, various plant-derived foods, such as Lycium barbarum, Ganoderma lucidum, Cryptotanshinone, Scutellaria baicalensis, Silybum marianum, Astragalus membranaceus, Ginkgo biloba, Panax ginseng, Crocus sativus, and resveratrol, have shown potential mechanisms for treating glaucoma. These bioactive components may address oxidative damage, neuroinflammation, and elevated intraocular pressure, which may be due to the modulation of multiple signaling pathways, including JAK2/STAT3, PI3K/AKT, MEK/ERK/CREB, cAMP/PKA/CREB, and others. However, further clinical trials are needed to validate dosage, bioavailability, and long-term safety. This review highlights the potential of bioactive components from plant-derived foods, offering a reference for further investigation into their effects on glaucoma. Full article

High myopia is increasingly prevalent and complicates glaucoma diagnosis. Axial elongation remodels the optic nerve head (ONH) and parapapillary tissues, producing structural and functional changes that mimic glaucoma—termed myopic optic neuropathy (MON). We reviewed current concepts on the MON–glaucomatous optic neuropathy (GON) spectrum and practical implications for diagnosis, monitoring, and management. A focused PubMed search targeted high/pathologic myopia, glaucoma, ONH and parapapillary anatomy, optical coherence tomography (OCT)/OCT angiography, visual fields, and progression. Major reviews, population-based studies, and longitudinal investigations were prioritized and integrated into a clinician-oriented framework. Greater myopia severity is associated with higher glaucoma risk and, in some cohorts, greater treatment burden, including surgery. Disc tilt, torsion, parapapillary atrophy, and staphyloma-related curvature complicate structural assessment and reduce reliability of single-visit OCT due to magnification and segmentation artifacts. Visual fields may be atypical, and central defects are under-sampled by standard 24-2 testing. Progression-centered strategies—combining event- and trend-based analyses and confirmation rules—distinguish MON-predominant changes from true GON or overlap and guide follow-up. In highly myopic eyes, multimodal structure–function assessment anchored on reproducible progression enhances diagnostic confidence and guides individualized intraocular pressure–lowering therapy. Standardized reporting of myopia definitions and progression criteria is recommended. Full article

Background: In this study, we aimed to evaluate and compare the diagnostic performance of peripapillary retinal nerve fiber layer (RNFL) thickness, macular ganglion cell–inner plexiform layer (GCIPL) thickness, and GCIPL asymmetry parameters in differentiating healthy eyes from primary angle-closure glaucoma (PACG), primary open-angle glaucoma (POAG), and secondary open-angle glaucoma (SOAG). Methods: This retrospective study included 204 eyes of 204 patients categorized into four groups: healthy controls (n = 46), PACG (n = 53), POAG (n = 58), and SOAG (n = 47). All participants underwent spectral-domain optical coherence tomography (OCT). Peripapillary RNFL thickness, sectoral and average GCIPL thickness, and GCIPL-derived asymmetry ratios were analyzed. Diagnostic performance was assessed using receiver operating characteristic (ROC) analysis. Results: Diagnostic accuracy varied according to glaucoma subtype. In distinguishing POAG from healthy controls, the average RNFL thickness (area under the ROC curve [AUC] = 0.82) demonstrated the highest diagnostic performance, followed by the superotemporal, inferotemporal, and average GCIPL thickness parameters. In contrast, no parameter reached an AUC of ≥0.80 in the PACG or SOAG comparisons. GCIPL asymmetry ratios exhibited limited discriminative ability across most analyses. Subtype differentiation was modest; POAG versus SOAG comparisons yielded AUC values up to 0.66, whereas PACG versus SOAG comparisons demonstrated minimal discrimination (AUC range: 0.47–0.63). Conclusions: Peripapillary RNFL and localized temporal GCIPL thickness measurements provide the highest diagnostic accuracy for identifying POAG. Diagnostic performance is reduced in PACG and SOAG, and the OCT parameters show limited ability to differentiate between glaucoma subtypes. GCIPL asymmetry indices do not enhance diagnostic discrimination beyond direct thickness measurements. Full article

Craniopharyngioma (CP) is a rare benign tumor of the sellar and suprasellar region that often compresses the optic pathways, causing significant visual impairment in both children and adults. The early detection and monitoring of optic nerve involvement are essential for preserving visual function. Optical coherence tomography (OCT) and OCT angiography (OCTA) are noninvasive, high-resolution imaging modalities that provide quantitative assessment of retinal nerve fiber layer (RNFL) thickness, ganglion cell complex (GCC), and retinal microvasculature. Thinning of the RNFL and GCC correlates with visual field defects and reduced visual acuity and may also serve as a predictor of postoperative visual recovery. OCTA reveals microvascular alterations that may precede structural damage and, together with other imaging parameters, can be used to estimate the likelihood of visual improvement after neurosurgery. This review summarizes current evidence on the use of OCT and OCTA in CP, highlighting their applications in assessment of optic pathway involvement, preoperative evaluation, postoperative monitoring, and risk stratification. Based on our clinical experience, we propose a table with recommended OCT parameters and follow-up intervals. Importantly, OCT should be interpreted alongside the visual acuity, visual field testing, and fundus examination for comprehensive assessment. Future directions include the standardization of imaging protocols and prospective multicenter studies, and integration of OCTA metrics into predictive models of visual outcomes. OCT and OCTA provide objective, reproducible biomarkers that support individualized patient care and may improve visual prognosis in CP. Full article

Objectives: The aim of this study was to evaluate macular vessel area densities (superficial and deep) and foveal avascular zone (FAZ) measurements using OCT-A in the eyes of primary progressive multiple sclerosis (PPMS) patients receiving Ocrelizumab treatment with or without optic nerve involvement. Methods: The medical records of PPMS patients who received Ocrelizumab treatment at least once were reviewed. Retinal nerve fiber layer (RNFL) thickness measurements and OCT-A analysis were conducted on the PPMS patients and on age-matched healthy individuals. The patient group was divided into two subgroups: eyes with optic neuritis (PPMS+ON) and eyes without ON (PPMS-ON). Central and mean superficial vessel area (SVA) and deep vessel area (DVA) densities, as well as foveal avascular zone (FAZ) measurements, were analyzed. All parameters were statistically compared between groups and subgroups. Results: A total of 38 PPMS patients receiving Ocrelizumab treatment and 31 healthy individuals were included in this study. Statistically significant differences were observed between the groups in terms of best corrected visual acuity (BCVA), RNFL thickness, and the superficial vessel area densities for all parts except for the central part. In terms of deep vessel area densities, differences were found in the central and inferior parts. The mean FAZ area also showed a statistically significant difference between groups. Mean RNFL thickness differed significantly between the subgroups. Mean nasal, temporal, inferior part, and total superficial vessel area densities were statistically different between the subgroups. The central and inferior parts of the deep vessel area densities showed statistically significant differences. The mean FAZ area was also statistically different between the subgroups. Conclusions: The findings suggest that macular superficial and deep vascular densities are affected in PPMS patients receiving the same therapy modality and that previous optic neuritis may influence the results. Full article

Background/Objectives: To characterize sectoral corneal thickness (CT) profiles in eyes with primary open-angle glaucoma (POAG) compared with healthy eyes and to evaluate potential associations between CT, retinal nerve fiber layer (RNFL) thickness, and optic disc rim area (RA). Methods: In this cross-sectional study, 192 participants (91 with POAG and 101 controls) contributed 297 eyes (145 glaucoma eyes and 152 control eyes). All participants underwent comprehensive ophthalmological examination and spectral-domain optical coherence tomography (OCT; Optovue Solix, Fremont, CA, USA) to obtain peripapillary RNFL measurements, optic disc rim area, and corneal pachymetry maps across five sectors (central, superior, inferior, temporal, and nasal). Repeated-measures correlation analyses were used to assess within-subject associations between CT and RA, and generalized estimating equation (GEE) models were applied to evaluate independent associations between CT, glaucoma status, disease severity, and RNFL thickness while adjusting for relevant covariates. Results: Eyes with POAG exhibited significantly thinner corneas across all sectors compared with controls (all p < 0.05), with the greatest differences observed in the superior (median 607.0 μm vs. 640.0 μm, p < 0.001) and temporal (562.0 μm vs. 579.5 μm, p < 0.001) regions. Average RNFL thickness and rim area were also significantly reduced in glaucoma eyes (all p < 0.001). However, no independent associations between sectoral CT and RNFL thickness or RA were observed after adjustment for multiple comparisons. Although nominal associations between thinner inferotemporal CT and reduced RNFL thickness were observed in unadjusted analyses, these did not remain statistically significant after false discovery rate correction. In multivariable GEE models, glaucoma diagnosis and greater disease severity were consistently associated with reduced RNFL thickness (β range: −11.0 to −42.2 μm; all p < 0.001), whereas CT was not independently associated with RNFL thickness (all adjusted p > 0.07). Conclusions: Sectoral corneal thickness is significantly reduced in eyes with POAG but does not independently correlate with RNFL thickness or optic disc rim area after adjustment for confounding factors. These findings support the concept that corneal thinning reflects structural and biomechanical susceptibility to glaucoma rather than serving as a marker of established neuroretinal damage severity. Further longitudinal studies incorporating comprehensive biomechanical assessments are warranted to clarify the role of corneal structure in glaucoma pathophysiology. Full article