Search Results (1,145)

Congenital cataracts (CCs) are a leading cause of preventable childhood blindness, with genetic factors playing a crucial role in their etiology. Nance–Horan syndrome (NHS) is a rare X-linked dominant disorder associated with CCs but is often underdiagnosed due to variable expressivity, particularly in female carriers. Objective: This study aimed to explore the genetic landscape of CCs in a Swiss cohort, focusing on two novel NHS and one novel GJA8 variants and their phenotypic presentation. Methods: Whole-exome sequencing (WES) was conducted on 20 unrelated Swiss families diagnosed with CCs. Variants were analyzed for pathogenicity using genetic databases, and segregation analysis was performed. Clinical data, including cataract phenotype and associated systemic anomalies, were assessed to establish genotype–phenotype correlations. Results: Potentially pathogenic DNA sequence variants were identified in 10 families, including three novel variants, one in GJA8 (c.584T>C) and two NHS variants (c.250_252insA and c.484del). Additional previously reported variants were detected in CRYBA1, CRYGC, CRYAA, MIP, EPHA2, and MAF, reflecting genetic heterogeneity in the cohort. Notably, NHS variants displayed significant phenotypic variability, suggesting dose-dependent effects and X-chromosome inactivation in female carriers. Conclusions: NHS remains underdiagnosed due to its variable expressivity and the late manifestation of systemic features, often leading to misclassification as isolated CC. This study highlights the importance of genetic testing in unexplained CC cases to improve early detection of syndromic forms. The identification of novel NHS and GJA8 variants provides new insights into the genetic complexity of CCs, emphasizing the need for further research on genotype–phenotype correlations. Full article

Posterior capsule opacification (PCO), a frequent complication of cataract surgery, arises from dysregulated wound healing and fibrotic transformation of residual lens epithelial cells. While transcriptomic and machine learning (ML) approaches have elucidated fibrosis-related pathways in other tissues, the molecular divergence between regenerative and fibrotic outcomes in the lens remains unclear. Here, we used an ex vivo chick lens injury model to simulate post-surgical conditions, collecting RNA from lenses undergoing either regenerative wound healing or fibrosis between days 1–3 post-injury. Bulk RNA sequencing data were normalized, log-transformed, and subjected to univariate filtering prior to training LASSO, SVM, and RF ML models to identify discriminatory gene signatures. Each model was independently validated using a held-out test set. Distinct gene sets were identified, including fibrosis-associated genes (VGLL3, CEBPD, MXRA7, LMNA, gga-miR-143, RF00072) and wound-healing-associated genes (HS3ST2, ID1), with several achieving perfect classification. Gene Set Enrichment Analysis revealed divergent pathway activation, including extracellular matrix remodeling, DNA replication, and spliceosome associated with fibrosis. RT-PCR in independent explants confirmed key differential expression levels. These findings demonstrate the utility of supervised ML for discovering lens-specific fibrotic and regenerative gene features and nominate biomarkers for targeted intervention to mitigate PCO. 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: To assess the optical performance of two refractive premium IOLs across pupil sizes and values of corneal spherical aberration (SA). Methods: Two refractive IOLs were evaluated in this study: Tecnis Eyhance and Mini Well. The surface profiles were obtained to calculate the through-object MTF (TO MTF) curves and simulate optotype images. Entrance pupil sizes ranging from 2 to 5.5 and three corneal models were analyzed in the simulation: an average population aberrated cornea, an aberration-free cornea and a post-Lasik myopic cornea. Results: For Model 1 and pupil sizes between 3.0 and 3.5 mm, Mini Well provided acceptable visual quality from far to near distances, whereas Eyhance struggled to maintain visual quality at distances closer than intermediate. For patients with lower-than-normal corneal SA (i.e., more prolate corneas, such as post-hyperopic LASIK) both IOLs exhibited a hyperopic shift in far focus. Conversely, for patients with higher-than-normal corneal SA (i.e., more oblate corneas, such as post-myopic LASIK), the shift occurred in the myopic direction. Despite the implementation of an optimized IOL power to circumvent any shift, the TO MTF nevertheless reflected the interaction between corneal and IOL SA. Furthermore, the Mini Well demonstrated increased tolerance to less negative SA values, while Eyhance exhibited behavior consistent with a monofocal lens for more positive SA values. Conclusions: Surgeons should consider each patient’s corneal asphericity and typical pupil diameter when selecting and calculating the power of the premium IOLs studied, particularly in patients with a history of refractive surgery. 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

We report a case of herpes simplex virus type 1 (HSV-1) anterior uveitis evolving into an acute iris transillumination-like syndrome with secondary pigmentary glaucoma, highlighting diagnostic challenges and treatment considerations. A 61-year-old immunocompetent woman presented with unilateral anterior uveitis characterized by keratic precipitates and mild anterior chamber inflammation. The condition was initially treated with topical and subconjunctival corticosteroids without antiviral therapy. After an initial resolution of symptoms, upon the cessation of treatment, the patient developed features resembling unilateral acute iris transillumination (UAIT) syndrome with elevated intraocular pressure, diffuse pigment dispersion, and progressive iris transillumination defects. Aqueous polymerase chain reaction (PCR) testing confirmed the presence of HSV-1. Despite the initiation of antiviral therapy, the condition progressed to severe pigmentary glaucoma, with unreliable intraocular pressure measurements due to prior LASIK surgery. Cataract extraction, pars plana vitrectomy, and Ahmed valve implantation were performed, with only partial recovery of visual acuity. This case illustrates that HSV-1 uveitis can mimic or transition into a UAIT-like syndrome, possibly due to steroid use without concurrent antiviral treatment, which may exacerbate viral replication and damage to the iris pigment epithelium. Aqueous PCR testing aids in differential diagnosis, but indicative medical history and clinical findings should remain instrumental. Clinicians should maintain a high index of suspicion for herpetic etiology in anterior uveitis cases and initiate prompt antiviral treatment to prevent potentially sight-threatening complications. Full article

This multicenter study evaluated the effectiveness and safety of third-generation trabecular micro-bypass implantation (iStent^® infinite) combined with phacoemulsification (n = 233 eyes). Key outcomes through 12 months included the mean change in intraocular pressure (IOP) and the number of topical medications, as well as proportions achieving IOPs ≤ 18/15/12 mmHg or using 0/1/2/ ≥ 3 medications. In all eyes with 12-month follow-up data (n = 96, consistent cohort), the mean IOP reduced from 17.2 ± 4.2 mmHg preoperatively to 13.8 ± 3.0 mmHg at Month 12 (p = 0.001), while the mean number of medications reduced from 1.24 ± 0.91 preoperatively to 0.61 ± 0.96 at Month 12 (p = 0.001). The proportions of eyes achieving IOP ≤ 18/15/12 mmHg increased from 63.5%, 34.4%, and 14.6% preoperatively to 92.7%, 71.9%, and 37.5%, respectively at Month 12, (all p = 0.001). The proportions of eyes off medication increased from 16.7% preoperatively to 62.5% at Month 12 (p = 0.001). This study provides clinically relevant, real-world results that demonstrate significant reductions in IOP and the number of topical glaucoma medications required following iStent infinite trabecular micro-bypass and phacoemulsification. Full article

Background: Cataract is the leading cause of severe, non-traumatic vision loss worldwide, leading to multiple adverse outcomes in mental health, including depression, anxiety, and cognitive decline; however, the relationship to psychotic symptoms remains unclear. While congenital vision loss appears protective against psychosis, acquired vision loss or acute deprivation are inducing psychotic symptoms. Methods: This study of 200 consecutive cataract patients, with severe vision loss, compares Paranoid Ideation and Psychoticism symptoms pre surgery, measured with the SCL-90-R scale, to those symptoms that persisted two months post-surgery. Results: The results confirm the hypothesis that cataract surgery is associated with a reduction in those symptoms (Wilcoxon Z = 5.425, p < 0.001 for Paranoid Ideation and Wilcoxon Z = 6.478, p < 0.001 for Psychoticism). Higher improvement in those variables was associated with higher improvement in visual acuity while controlling for age, gender and stressful life events during the past six months. Conclusions: Those results point to the importance of addressing loss of visual function especially in patients with pre-existing psychotic symptoms or signs of cognitive decline. Full article

The deamidation rate is relatively high for Asn residues with Phe as the C-terminal adjacent residue in γS-crystallin, which is one of the human crystalline lens proteins. However, peptide-based experiments indicated that bulky amino acid residues on the C-terminal side impaired Asn deamination. In this study, we hypothesized that the side chain of Phe affects the Asn deamidation rate and investigated the succinimide formation process using quantum chemical calculations. The B3LYP density functional theory was used to obtain optimized geometries of energy minima and transition states, and MP2 and M06-2X calculations were used to obtain the single-point energy. Activation barriers and rate-determining step changed depending on the orientation of the Phe side chain. In pathways where an interaction occurred between the benzene ring and the amide group of the Asn residue, the activation barrier was lower than in pathways where this interaction did not occur. Since the aromatic ring is oriented toward the Asn side in experimentally determined structures of γS-crystallin, the above interaction is considered to enhance the Asn deamidation. Full article

The global healthcare system faces significant challenges posed by diabetes and its complications, highlighting the need for innovative strategies to improve early diagnosis and treatment. Machine learning models help in the early detection of diseases and recommendations for taking safety measures and treating the disease. A comparative analysis of existing machine learning (ML) models is necessary to identify the most suitable model while uniformly fixing the model parameters. Assessing risk based on biomarker measurement and computing overall risk is important for accurate prediction. Early prediction of complications that may arise, based on the risk of diabetes and biomarkers, using machine learning models, is key to helping patients. In this paper, a comparative model is presented to evaluate ML models based on common model characteristics. Additionally, a risk assessment model and a prediction model are presented to help predict the occurrence of complications. Random Forest (RF) is the best model for predicting the occurrence of Type 2 Diabetes (T2D) based on biomarker input. It has also been shown that the prediction of diabetes complications using neural networks is highly accurate, reaching a level of 98%. Full article

Cataracts remain one of the leading causes of reversible blindness in low- and middle-income countries such as Ecuador. This study assessed the efficacy of Small Incision Cataract Surgery (SICS) and analyzed sociodemographic and clinical factors associated with postoperative visual outcomes. A retrospective multicenter analysis was conducted across six ophthalmology clinics along the Ecuadorian coast between 2023 and 2024, including 558 patients aged 30 years or older. Postoperative visual acuity, measured using the LogMAR scale, improved significantly (mean improvement of 0.525 LogMAR units in the right eye (OD) and 0.489 LogMAR units in the left eye; p < 0.001). Ages between 60 and 69 years were associated with better outcomes in the right eye, while male sex was a protective factor against poor visual acuity in the left eye. Although diabetes mellitus and hypertension were prevalent, neither condition showed a significant association with postoperative visual outcomes. The findings confirm that SICS is a safe, effective, and cost-efficient surgical approach for restoring vision in resource-limited settings, supporting its inclusion in national public health strategies to reduce avoidable blindness in developing countries. Full article

Cataract surgery, while commonly considered a routine, highly effective, and generally low-risk ophthalmic procedure, has been associated with corneal endothelial cell loss (ECL), a phenomenon particularly pronounced in patients with type 2 diabetes mellitus (DM2). This increased susceptibility in diabetic patients is often attributed to pre-existing corneal abnormalities, including compromised structural integrity and reduced endothelial cell density. Additionally, metabolic stress factors inherent to diabetes, such as chronic hyperglycemia and associated oxidative stress, further exacerbate endothelial vulnerability. Consequently, diabetic patients may experience significantly greater endothelial cell loss during and after cataract surgery, necessitating targeted surgical strategies and careful perioperative management to preserve corneal health and visual outcomes. This paper aims to conduct an extensive and detailed review of the existing scientific literature to thoroughly investigate the relationship between ECL and cataract surgery in patients diagnosed with DM2. This study conducts a critical evaluation to elucidate the mechanisms contributing to high endothelial vulnerability in individuals with diabetes. It systematically compares the rates of ECL observed in diabetic and non-diabetic populations undergoing cataract surgery, examines molecular alterations following the procedure in patients with and without DM2, identifies key risk factors influencing surgical outcomes, evaluates the impact of various surgical techniques, discusses preventative measures, and examines the long-term consequences of ECL in this specific population. Furthermore, this review analyzes the existing research to identify gaps in knowledge and suggest potential directions for future investigations. Full article

Background/Objectives: A new, purely refractive extended depth-of-focus (EDOF) intraocular lens (IOL) was designed with a continuous change in power to bridge the gap between monofocal and multifocal IOLs. This study aimed to evaluate the real-world clinical outcomes of the new EDOF IOL compared with those of the enhanced monofocal IOL. Methods: A retrospective analysis was conducted on 100 eyes from 50 patients undergoing bilateral cataract surgery with either the PureSee™ EDOF (ZEN00V) or Eyhance™ (ICB00) monofocal IOL at a single institution. Visual acuity, defocus curves, contrast sensitivity, and patient-reported outcomes were evaluated three months postoperatively. Results: The ZEN00V group demonstrated superior uncorrected intermediate (0.11 ± 0.08 vs. 0.17 ± 0.11 logMAR, p = 0.006) and near visual acuity (0.25 ± 0.08 vs. 0.31 ± 0.13 logMAR, p = 0.023) compared to the ICB00 group, with comparable distance visual acuity. Both groups exhibited comparable defocus curves and contrast sensitivity. While photic phenomena were more frequent in the ZEN00V group, spectacle dependence was significantly lower for near vision (36% vs. 80%, p = 0.002) and comparable for intermediate and far vision. Conclusions: The PureSee™ EDOF IOL demonstrated enhanced intermediate and near vision with minimal compromise to distance vision while maintaining high contrast sensitivity. It also offered significant spectacle independence and patient satisfaction, making it a promising option for presbyopia correction. Full article

Background: Personalized precision medicine has become a prevailing trend and applies to the selection of intraocular lenses (IOLs) for cataract surgery based on the unique corneal morphology of each person. The choice of presbyopia-correcting IOLs for post-laser-assisted in situ keratomileusis (LASIK) cataract surgery is a significant concern. However, few direct comparison studies exist between eyes with and without LASIK history. We analyzed the performance of extended depth of focus (EDOF) IOL implantation in these two groups. Methods: In this retrospective single-center study, we included patients with or without previous LASIK who underwent cataract surgery and EDOF Symfony IOL implantation, with ≥1 follow up. All patients underwent optical biometry using the IOLMaster. IOL power was calculated using the Sanders Retzslaff Kraff/theoretical and Haigis-L formulas for patients without and with LASIK, respectively. Uncorrected distance visual acuity (UDVA), uncorrected near visual acuity (UNVA), refraction, and corneal tomography were recorded. The prediction error was the absolute difference between the postoperative sphere and target refraction. The right eyes of patients who met the inclusion criteria were selected for analysis. Results: Among the 321 recruited eyes, 18 underwent previous LASIK. After 1:3 age/sex matching, 17 LASIK and 49 non-LASIK eyes from 66 patients were analyzed. No significant preoperative differences existed in target refraction, spherical equivalent, or best-corrected visual acuity. All surgical procedures were uneventful. LASIK exhibited non-inferiority to non-LASIK for predictive refraction error and UNVA. An age/sex-matched regression analysis indicated no UDVA superiority between the two groups. Conclusions: Previous LASIK may have no discernible effect on the visual performance of presbyopia-correcting EDOF IOLs with respect to the absolute refractive error, UNVA, and UDVA. Longer follow-up and larger-scale studies are required to further validate these results. Full article