Search Results (398)

Background: Visual impairment (VI) continues to be a significant global public health concern, especially in underserved rural communities. Objectives: This study aims to assess the prevalence of VI and refractive errors, as well as to identify the causes and risk factors associated with VI in Duhknah, a rural area in Qassim Province, Saudi Arabia. Methods: This cross-sectional study, conducted in May 2024, included 929 participants aged 6–90 years from Duhknah, a rural area in Qassim Province, Saudi Arabia. Refractive errors (REs) were measured using a non-cycloplegic autorefractometer. Anterior and posterior eye examinations were performed using slit lamp biomicroscopy, direct ophthalmoscopy, and 90 D fundus biomicroscopy. VI was classified based on the International Classification of Diseases 11th revision (ICD-11), 2018. Results: The findings revealed that 671 (72.2%) participants had never undergone an eye examination. The overall prevalence of presenting VI was 370 (39.8%), comprising 21.6% with mild VI, 11.0% moderate, 4.1% severe, and 3.1% classified as blind. The prevalence of hyperopia, myopia, and astigmatism was 20.6%, 36.9%, and 13.2%, respectively. Uncorrected REs were the most common cause of VI (81.4%), followed by amblyopia (13.5%) and cataracts (3.2%). Regression analysis showed that women had 1.58 times higher odds of VI (p = 0.001). Participants with eye examinations for one year or more had 3.64 times higher odds (p < 0.001). Additionally, the risk of VI was significantly lower among older participants (ages 18–90) compared to younger ones (ages 6–17), (p < 0.001). Conclusions: This study found most participants had never had an eye exam, and VI was highly prevalent in the rural community. These findings underscore the need to strengthen primary eye care in rural Saudi Arabia. Regular vision screening, particularly for children, and better access to refractive services could significantly reduce VI and support the goals of Saudi Vision 2030. Full article

Background: Cerebrotendinous Xanthomatosis (CTX) is a rare, inherited metabolic disease caused by pathogenic variants in CYP27A1. The clinical presentation of this progressive disease includes cognitive deficits, ataxia, peripheral neuropathy, and pyramidal signs, as well as bilateral cataracts and tendon xanthomas. In some cases, CTX also includes parkinsonism. The goals of this study are to develop a data source that provides improved characterization and awareness of parkinsonism in CTX. Methods: We conducted a systematic review of the literature according to PRISMA guidelines to identify all published individuals diagnosed with CTX and parkinsonism. Clinical signs, imaging findings and treatment response to both chenodeoxycholic acid and dopaminergic medications were examined for 72 subjects. Results: The average age of onset of parkinsonism in these CTX patients was 42 years, illustrating the early onset nature of parkinsonism in CTX. Functional dopaminergic imaging revealed the loss of presynaptic dopaminergic neurons in the substantia nigra which points to neurodegeneration of the dopaminergic system as the underlying pathophysiology for parkinsonism in CTX. Brain MRI showed abnormalities in the basal ganglia in 38% of subjects. MRI also showed abnormalities in the cerebellum in 88% of subjects which is typical for CTX and can be utilized to distinguish subjects with CTX and parkinsonism from individuals with other forms of atypical parkinsonism. Dopaminergic medication mitigated parkinsonism signs in most individuals with CTX. Conclusion: CTX is a neurometabolic disease that can result in levodopa-responsive parkinsonism that should be included in the differential for atypical parkinsonism. Full article

Background: Patients with primary angle-closure disease (PACD), those with no history of acute angle-closure glaucoma or laser iridotomy, rarely present with prominent corneal endothelial cell density (CECD) loss. To identify factors associated with decreased CECD in PACD, anterior segment parameters were compared in patients with PACD and normal CECD and patients with PACD and decreased CECD, using anterior segment optical coherence tomography (AS-OCT). Patients and Methods: Ten patients with PACD and CECD of less than 1500/mm² without a history of cataract surgery, acute angle-closure glaucoma, or prior laser glaucoma procedures were identified at the Kyorin Eye Center from January 2018 to July 2023. Patients with an obvious corneal guttata or apparent corneal edema were also excluded. Seventeen patients with PACD and normal CECD (normal CECD group) were used as the control. Simultaneous biometry of all anterior segment structures, including the cornea, anterior chamber, and iris, were assessed using a swept-source AS-OCT system. Results: Corneal curvature radius was significantly larger in the decreased CECD group compared with the corneal refractive power in the normal CECD group (p = 0.022, Mann–Whitney test). However, no significant differences were detected in other anterior segment morphology parameters. Multiple regression analysis with CECD as the dependent variable revealed that a large corneal curvature radius was a significant explanatory variable associated with corneal endothelial loss. Conclusions: Flattened corneal curvature may be a risk factor for corneal endothelial loss in patients with PACD. Full article

Background/Objectives: Heart rate variability (HRV) is a marker of autonomic nervous system function, based on fluctuations in heartbeat intervals. Although several studies have investigated the association between frequency-domain HRV parameters and glaucoma, evidence based on large sample sizes remains limited. Therefore, the present study aimed to examine the relationship between frequency-domain HRV parameters and glaucoma subtypes, including primary open-angle glaucoma (PG) and exfoliation glaucoma (EG), using a larger sample size. Methods: Participants with primary open-angle glaucoma (PG), exfoliation glaucoma (EG), or no ocular disease other than cataract (controls) were recruited at Shimane University between June 2023 and July 2024. Frequency-domain HRV parameters (total power [TP], very-low-frequency [VLF], low-frequency [LF], high-frequency [HF], and LF/HF) were measured using a sphygmograph (TAS9 Pulse Analyzer Plus View). Group comparisons were conducted using unpaired t-tests, Fisher’s exact tests, and Tukey’s HSD test. Multivariate analyses were performed to identify factors associated with each HRV parameter. Results: A total of 809 participants were analyzed, including 522 with PG, 191 with EG, and 96 controls. The EG group showed significantly lower values across all frequency-domain HRV parameters compared to the PG group, and significantly lower LnLF values than the control group (p = 0.012). Multivariate analyses revealed that no significant associations were found between HRV measures and the presence of glaucoma or pseudoexfoliation material (PEM) deposition. Older age was significantly associated with lower values across all HRV parameters. Conclusions: In elderly glaucoma patients, age-related alterations in frequency-domain HRV parameters have been observed. Full article

Background: Epiretinal membrane (ERM) and proliferative diabetic retinopathy (PDR) belong to the group of vitreoretinal diseases, characterized by impairments at both the retina and the vitreous. The non-diabetic and diabetic forms of ERM (no-dERM and dERM) as well as the PDR are caused by microvascular disorder, which frequently occurs in association with inflammation and oxidative stress. To better characterize no-dERM, dERM, and PDR at the biomolecular level, we compared the expression of inflammatory, oxidative, lipidic peroxidation products, and complement receptors. Methods: Twenty-seven ocular fluids from patients who underwent phaco-vitrectomy were categorized as no-dERM (9, 4M/5F; 70.4 ± 6.4), dERM (6, 3M/3F; 73.2 ± 4.9), and PDR (6, 5M/1F; 63.7 ± 7.4). Six cataracts (CTR; 3M/3F; 77.7 ± 9.0) were collected for internal control of aqueous cells. Results: In aqueous cells, p65NFkB, iNOS, Nox1/Nox4, and Nrf2 were significantly upregulated, and Keap1 was downregulated in dERM compared with PDR and no-dERM. In aqueous cells, a significant upregulation for C3aR1mRNA, C5aR1mRNA, and CFHmRNA were observed in dERM. In vitreous, C3a, C5b9, and MDA levels were significantly increased in dERM compared with PDR and no-dERM. Conclusions: Inflammatory and ROS products, as well as C3aR1/C5aR1 and soluble MDA, appear of great interest, as their expression in aqueous and vitreous might have potential prognostic and therapeutic values. Full article

Several soluble mediators are activated during myogenesis and progression, and severe neurodegeneration, with related biomarkers, characterizes high myopia-related retinal atrophy. Targets of oxidative stress, epigenetics and neurogenic inflammation have been reported in the prospecting of some bioindicators to mirror retinal insults occurring in high myopia. The aim of the present study was to assess the expression of a few selected biomarkers belonging to the neurotrophin (NGF and BDNF), oxidative (NO, KEAP1/NRF2), and epigenetic (DNMT3 and HD1) pathways. Sixty-five (65; 76.25 ± 9.40 years) specimens—aqueous, anterior capsule (AC), and lens epithelial cells (LEC)—were collected at the time of cataract surgery and used for ELISA (aqueous) and transcripts analysis (AC/LEC). Biosamples were grouped as emmetrope (23; 81.00 ± 6.70 years); myopia (24; 75.96 ± 7.30); and high (pathological) myopia (18; 70.56 ± 11.68 years), depending on axial length (AL) and refractive error (RE). Comparisons and correlations were carried out between myopic and high-myopic subgroups. NGF and BDNF were lowered in myopic samples; NGF and BDNF transcripts were differentially expressed in LEC, and their expression correlated positively with NGF and negatively with BDNF, with the expression of the αSMA phenotype. NGF and BDNF correlated negatively with NO and nitrites. Oxidative stress (iNOS/NOX1/NOX4 and KEAP1/NRF2) and epigenetic (DNMTα3/HD1) transcripts were upregulated in myopic LEC, compared with emmetropic ones. Herein, we prospect the contribution of NGF and BDNF in both neuroinflammation and neuroprotection occurring in this chronic disease. Full article

Purpose: To review the current literature on the combined use of cataract surgery (or lensectomy) and vitrectomy in pediatric patients, with a focus on clinical indications, surgical techniques, outcomes, and complications across various pediatric ocular pathologies. Methods: A narrative review of published studies addressing the use of combined lensectomy and vitrectomy (LV) in pediatric patients was conducted. Conditions discussed include congenital cataracts, ectopia lentis, retinopathy of prematurity (ROP), retinal detachment (RD), and persistent fetal vasculature (PFV). Key surgical considerations, visual and anatomical outcomes, and postoperative complications were examined. Results: The literature search yielded a total of 160 articles, of which 43 met the inclusion criteria and were included in this review. Although lens-sparing vitrectomy (LSV) is preferred in many pediatric cases to preserve accommodation and reduce complications, combined LV is often necessary in advanced or complex diseases. Studies have shown that combined LV can achieve favorable anatomical outcomes, but functional visual recovery remains variable and is affected by factors such as patient age, baseline ocular anatomy, and disease severity. Postoperative complications such as glaucoma, visual axis opacification (VAO), and intraocular lens (IOL) dislocation are more frequent with combined procedures and require long-term follow-up and rehabilitation. Conclusions: Combined cataract surgery (or lensectomy) and vitrectomy may represent a valuable strategy in the management of complex pediatric ocular conditions, particularly when individualized to the clinical context. Tailored surgical approaches are essential to optimize anatomic and functional outcomes. Further prospective studies and harmonized multicenter registries are needed to develop evidence-based principles that can guide individualized surgical decision-making in this unique patient population. 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

Purpose: To investigate the role of the kynurenine pathway (KP) in ocular diseases by evaluating the activity of key enzymes—kynurenine aminotransferase (KAT) and kynurenine monooxygenase (KMO)—and the 3-hydroxykynurenine to kynurenic acid (3-HK/KYNA) ratio in relation to cataract severity, diabetes, glaucoma, and pseudoexfoliation syndrome (PEXS). Methods: Tryptophan metabolite levels were measured in patients undergoing cataract surgery and stratified by SPONCS grading and comorbid conditions. KAT and KMO activities were estimated using metabolite ratios (KYNA/KYN and 3-HK/KYN, respectively). Statistical analyses included Kruskal–Wallis tests with post hoc comparisons and Mann–Whitney U tests. Results: KAT activity declined significantly with increasing SPONCS grade (p = 0.014), suggesting a progressive loss of KYNA production and antioxidative capacity in advanced cataracts. Diabetic patients exhibited higher KMO activity (p = 0.039) and elevated 3-HK/KYNA ratios (p = 0.013), indicating a metabolic shift toward oxidative stress and neurotoxicity. Similarly, glaucoma patients had significantly increased KMO activity (p = 0.032), consistent with enhanced 3-HK-mediated retinal ganglion cell damage. In contrast, PEXS showed no significant alterations in KP markers. Conclusions: The kynurenine pathway is differentially modulated in ocular diseases. A decline in KAT activity correlates with cataract severity, while upregulation of KMO is prominent in diabetes and glaucoma, revealing disease-specific metabolic dysregulation. Targeting KMO to reduce toxic metabolite accumulation or enhancing KYNA synthesis may offer novel therapeutic avenues. These findings also support the potential of KP metabolites as biomarkers for disease monitoring and progression. Full article

Background: Systemic arterial stiffness and atherosclerosis have been increasingly recognized as potential contributors to the pathogenesis of glaucoma. Several studies have reported associations between glaucoma and various surrogate markers of vascular stiffness. However, despite the growing interest in the vascular components of glaucoma, no previous studies have specifically explored the relationship between the indices derived from acceleration plethysmography (APG) and glaucoma. This study seeks to address this gap by investigating the potential association between APG parameters and the presence of glaucoma. Methods: The subjects were 701 patients (mean age 68.6 years, 54% male) with open-angle glaucoma (primary open-angle glaucoma [POAG] or exfoliation glaucoma [EXG]), and 94 control subjects (mean age 60.1 years, 57% male) who had no eye diseases other than cataracts. The subjects were all cases in which APG was measured using a sphygmograph (TAS9 Pulse Analyzer Plus View; YKC Corp., Tokyo, Japan). The amplitude of waveform types (a, b, c, d, and e-waves) and derived vascular types (A, B, and C) of the accelerated pulse wave components were statistically compared between the cases and controls. Results: The accelerated pulse wave components (mean ± standard deviation) of the control and glaucoma groups were a-wave 785 ± 99 and 776 ± 93 (p = 0.40), b-wave −522 ± 161 and −491 ± 143 (p = 0.050), c-wave −142 ± 108 and −156 ± 105 (p = 0.24), d-wave −288 ± 144 and −322 ± 122 (p = 0.014), and e-wave 103 ± 79 and 90 ± 58 (p = 0.059), with differences between the groups being observed in the b and d-waves. For derived vascular types, compared with the controls and POAG, patients with EXG had a lower frequency of Type A and a higher frequency of Type C than the other groups (p = 0.044). Multivariate analysis showed that factors significantly associated with vascular type included age (p < 0.0001), sex (p < 0.0001), diastolic blood pressure (p = 0.021), and pulse rate (p < 0.0001), while BMI, systolic blood pressure, history of hypertension, history of diabetes, presence or absence of glaucoma, and presence or absence of pseudoexfoliation material were not significant. Conclusions: This is the first study to investigate the relationship between APG and glaucoma with a large sample size. In elderly glaucoma patients, particularly those with EXG, systemic vascular changes are often present. APG parameters may reflect vascular alterations in glaucoma. Full article

The ocular surface is susceptible to a wide spectrum of inflammatory, degenerative, and neurotrophic diseases that can impair vision. The complex pathophysiology and limited therapeutic options associated with these conditions continue to pose significant clinical challenges. Nerve Growth Factor (NGF), a neurotrophin initially recognized for its role in neuronal survival and differentiation, has emerged as a key regulator of ocular surface homeostasis and repair. Beyond its neurotrophic functions, NGF is suggested to influence epithelial proliferation, immune responses, tear secretion, and angiogenesis. Experimental and clinical studies have implicated NGF in both the pathogenesis and potential treatment of various ocular surface diseases, including allergic conjunctivitis, neurotrophic keratopathy (NK), immune-mediated and herpetic keratitis, and dry eye disease (DED), as well as post-surgical corneal wound healing. Notably, recombinant human NGF (rhNGF, cenegermin) has been approved as the first topical biologic therapy for NK. Despite encouraging clinical outcomes, challenges such as high treatment costs, limited long-term data, and potential proangiogenic effects remain. This review consolidates current evidence on the role of NGF in ocular surface health and disease, highlighting its biological mechanisms, clinical applications, and future therapeutic potential. Full article

Background/Objectives: Dry eye disease (DED) is a common condition that can significantly impact cataract surgery outcomes. Preoperative management strategies, including the use of moisturizing eye drops, may improve ocular surface health and postoperative recovery. This study aimed to compare postoperative outcomes in 71 patients undergoing cataract surgery between June 2022 and May 2023 at a single center with and without preoperative keratostill moisturizing eye drops (sterile aqueous 0.3% hydroxypropyl methylcellulose solution) determined using the ocular surface disease index (OSDI), tear break-up time (TBUT), and optical coherence tomography (OCT) at diagnosis, on the day of surgery, and at two weeks postoperatively. Methods: A prospective observational study was conducted on 71 patients undergoing cataract surgery at Saint Barbara Hospital Trauma Center, Sosnowiec, Poland, from June 2022 to May 2023. Patients were randomly assigned to a test group (moisturizing eye drops) or a control group (no preoperative eye drops). The OSDI, TBUT, and OCT were evaluated at the baseline, preoperatively, and postoperatively. Results: The test group showed a significant improvement in OSDI scores (preoperative: 6.34 vs. baseline: 11.81; p < 0.001), which further decreased postoperatively (3.30; p < 0.001). TBUT also significantly increased from baseline to the preoperative visit (6.20 s to 7.97 s; p = 0.002) and remained stable after surgery (7.78 s). In contrast, the control group demonstrated only a minimal postoperative change in OSDI (3.92 to 3.70; p > 0.05) and a significant postoperative decrease in TBUT (5.96 s to 5.69 s; p = 0.864). Only the control group showed a significant postoperative decrease in epithelial thickness in operated eyes (p = 0.021), whereas no significant changes were observed in the test group. Conclusions: The preoperative use of moisturizing eye drops significantly improves the tear film stability, ocular comfort, and epithelial integrity, leading to better postoperative outcomes in cataract surgery patients. Full article

Hereditary cataract is a progressive ocular disorder that is present also in Australian Shepherd and Miniature American Shepherd dogs, primarily caused by a mutation in the HSF4 gene. This study analyzed 233 Australian Shepherd dogs tested in Italy between 2020 and 2024 to evaluate genotypic and allelic frequencies of the main causative mutation. DNA samples were collected and tested, classifying individuals as homozygous wild-type, heterozygous, or homozygous mutant. The overall mutant allele frequency was 6.01%. Furthermore, a small subset of 13 Miniature American Shepherds was analyzed and genetic tests revealed that they were all homozygous wild type, suggesting no presence of the causative allele in this small sample. These findings confirm the importance of genetic testing in dog populations emphasizing the need for responsible selection practices to further minimize the disease’s impact. Full article

Advanced glycation end-products (AGEs) and oxidative stress are recognized as central contributors to the pathogenesis of age-related or diabetic cataracts, diabetic retinopathy (DR), and age-related macular degeneration (AMD). These glycation-related diseases are characterized by impaired redox balance and decreased glutathione (GSH) levels. This review aims to examine the mechanistic links between AGEs and GSH depletion across ocular tissues by integrating in vitro, ex vivo, in vivo, and clinical studies relevant to this topic. The multiple levels of evidence highlight GSH homeostasis as both a biomarker and therapeutic target in glycation-related ocular disorders. Therapeutic strategies aimed at restoring GSH homeostasis under glycation stress are categorized into four mechanistic domains: (I) promoting GSH supply and synthesis, (II) enhancing GSH recycling, (III) mitigating glycation stress, and (IV) reducing oxidative and nitrosative stress. Most of these strategies have been explored via different approaches, and experimental findings with various interventions have shown promise in restoring GSH balance and mitigating AGE-induced damage. A pathological link between GSH depletion and vascular endothelial growth factor (VEGF) overexpression is observed in DR and wet AMD. GSH-centered interventions act upstream to modulate redox homeostasis while anti-VEGF therapies target downstream angiogenesis. This study supports the rationale for a dual-targeting strategy that combines redox-based interventions with VEGF inhibition in glycation-related ocular diseases. Full article

Glycation is known as an important factor inducing human diseases, including diabetic complications. As oxidative stress contributes to procedures of glycation, antioxidants may inhibit glycation and delay the progression of diabetic complications. Our previous investigation of human aqueous humor after the intake of a lutein-containing supplement demonstrated increases in antioxidative activities and decreases in peroxidative products. This study enrolled 25 patients with diabetes (DM group) and 100 age-matched controls. Aqueous humor samples were collected during cataract surgery before and after 6 weeks of oral intake of the lutein-containing antioxidant supplement, Ocuvite + Lutein^®. The carboxymethyl-lysine level (CML) was measured as an indicator of glycation. Levels of superoxide dismutase activities (SOD) and total hydroperoxide (TH) were measured as indicators of oxidation. Changes after intake and the differences between age-matched controls and the DM group were evaluated. CML decreased after intake among the DM group, while there were no changes among the age-matched controls. SOD was significantly lower and TH was significantly higher in the DM group as compared to the age-matched controls, both before and after intake. In line with the decreases in glycation, the intake of lutein-containing antioxidant supplements may inhibit diabetic complications in diabetic patients. Full article