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At least 19 recordsLinked to original sources

PubMed2026

Integrative multi-omics quantitative trait loci prioritize CASP7 as a candidate protective gene for cataract.

Cataracts are the leading cause of vision loss worldwide. Despite surgery being the only effective treatment, its economic burden highlights the necessity of exploring the pathogenesis of cataracts. In this study, we analyzed 4 large-scale GWAS (genome-wide association study) datasets for cataracts and performed SMR analysis along with heterogeneity in dependent instruments (HEIDI) testing to explore the effects of methylation, expression, and protein QTLs on cataracts. We further validated shared genetic variants through COLOC analysis. Additionally, we searched datasets related to cataracts from the Gene Expression Omnibus (GEO) database for differentially expressed genes (DEGs) and Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes pathway (KEGG) enrichment analyses. By integrating summary-based Mendelian randomization (SMR) results with bioinformatics findings, CASP7 showed a consistent protective-direction association with cataract risk (mQTL: OR [95% CI] = 0.959 [0.941-0.977], FDR-adjusted P = .039; eQTL: OR [95% CI] = 0.897 [0.860-0.937], FDR-adjusted P = .0046; pQTL: OR [95% CI] = 0.597 [0.483-0.738], FDR-adjusted P = .00083). GEO-based analyses provided transcriptomic support for CASP7 involvement in cataract-related lens biology. These findings prioritize CASP7 as a genetically supported candidate protective gene associated with cataract risk. Because this study is based on public summary-level and transcriptomic datasets, the results should be interpreted cautiously and require functional validation in human lens-relevant systems.

Quantitative Trait Loci↗

PubMed2026

KLF5 promotes proliferation, migration, and autophagy-/EMT‑associated molecular changes in lens epithelial cells via transcriptional activation of THBS1 in traumatic cataract.

PURPOSE: Traumatic cataract is a common blinding eye disease after ocular trauma, and its pathogenesis is closely related to lens epithelial cell dysfunction, while the definite molecular regulatory mechanism between upstream transcription factor and downstream target gene remains poorly clarified. This study aimed to clarify the role and molecular mechanism of the krüppel-like factor 5 (KLF5)/ thrombosponin 1 (THBS1) axis in regulating proliferation, migration, epithelial-mesenchymal transition and autophagy of lens epithelial cells in traumatic cataract, and to explore its potential clinical therapeutic value. METHODS: The GSE295383 dataset in the gene expression omnibus (GEO) database was downloaded, and the differentially expressed genes (DEGs) were screened by linear models for microarray data (limma) package of R language. Combined with Weighted gene co-expression network analysis (WGCNA), the gene co-expression network was constructed and the key modules were screened. Gene ontology (GO), kyoto encyclopedia of genes and genomes (KEGG) and gene set enrichment analysis (GSEA) combined with human transcription factor target (hTFtarget) and JASPAR databases were used to predict the upstream transcription factors of THBS1. Subsequently, SRA01/04 cells were induced with transforming growth factor-beta 2 (TGF-β2) to construct a cataract cell model. RESULTS: THBS1 and KLF5 were highly expressed in LECs exposed to TGF-β2. KLF5 could activate THBS1 transcription by binding to THBS1 promoter - 174 to -165 sites. Knockdown of THBS1 inhibited TGF-β2-induced viability, proliferation, migration, and altered the expression of epithelial-mesenchymal transition (EMT)- and autophagy-related markers in LECs. Knockdown of KLF5 downregulated THBS1 expression and produced a similar inhibitory effect, while overexpression of THBS1 reversed the effect of KLF5 knockdown. CONCLUSIONS: This study demonstrated that KLF5 promoted the proliferation, migration, and EMT‑associated molecular changes of LECs in traumatic cataract through transcriptional activation of THBS1, and regulated the expression of autophagy‑related markers in LECs, suggesting that KLF5/THBS1 axis might be a potential target for the treatment of traumatic cataract.

Cataract↗

PubMed2024

A lipidomic study on the lens epithelial cells of patients with age related cataracts.

Age related cataracts (ARC) represent the main reason for blindness globally. The lens epithelial cells (LECs) participate not only in the metabolism of many substances in the lens but also in maintaining lens transparency. This study used lipidomics to investigate the metabolic differences in LECs of ARC patients with different severity, aiming at identifying potential metabolic biomarkers of ARC. Patients diagnosed with ARC and underwent cataract surgery at Shanghai Tongren Hospital were selected to participate in this study, which were classified as mild ARC group and severe ARC group. During their cataract surgery, anterior lens capsules(LCs) containing LECs were obtained. The lipidomics of LECs were analyzed using the liquid chromatography‑mass spectrometry (LC-MS). Potential pathways of lipids were searched for using databases such as the Kyoto Encyclopedia of Genes and Genomes (KEGG) and MetaboAnalyst platform. In LEC lipids, 26 lipids have been identified as potential biomarkers between mild ARC and severe ARC, with AUC values of 0.67-0.94. The pathway analysis results revealed that the Glycerophospholipid (GPL) metabolism was significantly influenced, indicating that these metabolic markers contribute significantly to regulating this pathway. The LEC metabolic spectrum demonstrates a proficient ability to differentiate between patients with varying levels of cataracts. Herein, we have successfully identified potential metabolic biomarkers and pathways that have proven to be valuable in enhancing our understanding of ARC pathogenesis. The finding has translational value for developing new cataract treatment methods in the future.

Humans↗

PubMed1978

Association of presenile cataracts with heterozygosity for galactosaemic states and with riboflavin deficiency.

Red cells and the lens of the eye are non-nucleated cells; moreover, they have metabolic similarities. Cataracts develop in childhood in homozygotes for galactosaemic abnormalities, which can be detected by biochemical measurements in red blood-cells. It has not been determined whether heterozygotes for these defects are at greater risk for cataract development later in life. Similarly, riboflavin deficiecy for which the erythrocyte is a sensitive indicator, has been associated with cataracts in animals. Red-cell studies were carried out in 22 patients, aged under 50, with cataracts. Heterozygosity for galactokinase deficiency was detected in 5 patients, for galactose-uridyl transferase in 2, and evidence of an erythrocytic deficiency of riboflavin in 8. Even when Black subjects were excluded from analysis because of their high incidence of polymorphism for galactokinase, these findings are significantly different from those expected from population surveys and suggest that many patients with presenile cataracts have a biochemical abnormality which can be detected by examination of red blood-cells and which may be corrected by dietary restrictions or supplements.

Adolescent↗

PubMed1979

Influence of dietary zinc on cataracts in rainbow trout (Salmo gairdneri).

The purpose of this study was to determine the cause of lens cataracts in hatchery trout fed diets containing white fish meal. After preliminary investigations, three experiments were conducted with fry of rainbow trout (Salmo gairdneri) that were fed practical-type diets containing either 40% herring meal (control diet) or 40% white fish meal with and without various mineral supplements. In all experiments, the trout fed herring meal grew well and had normal lenses. Those fed the diet containing white fish meal without supplement grew slowly and developed bilateral cataracts determined by using a slit-lamp biomicroscope. The severity of cataracts was increased by supplementing the diet with a mixture of minerals (phosphates and carbonates of calcium, sodium and potassium). Cataracts were prevented, however, with supplemental Na2EDTA or zinc but not by supplements of manganese, copper, iron or various other minerals. The metabolic alterations responsible for the zinc-deficiency cataract were not determined.

Animal Feed↗

PubMed1979

Fibrinolytic factors in aqueous humour and serum from patients with Fuchs' dystrophy and patients with cataract.

The concentration of alpha 2-macroglobulin, alpha 1-antitrypsin, plasminogen, C3-complement, fibrinogen degradation products (FDP) and fibrinolytic activity, were studied in the aqueous humour and serum from nine patients with Fuchs' endothelial dystrophy, 17 patients with uncomplicated senile cataract and in the secondary aqueous from six cataract patients. Finally, the aqueous humour and serum from two patients anterior uveitis were studied. An increased concentration of alpha 2-macroglobulin, alpha 1-antitrypsin, plasminogen and C3-complement was found in both the aqueous and the serum from patients with Fuchs' dystrophy when compared with the primary aqueous and serum from patients with cataract but this was only significant for alpha 1-antitrypsin in aqueous humour. A significant increase in the amount of FDP was found in the serum of the Fuchs' patients compared with the cataract patients. Fibrinolytic activity could not be demonstrated in the serum in any of the patient groups. The concentrations of the various factors found in the secondary aqueous of the cataract patients differed only slightly from the content of the primary aqueous of the Fuchs' patients.

Aged↗

PubMed1979

Incidence of cataracts in rhesus monkeys treated with whole-body irradiation.

The incidence of cataract formation was investigated in rhesus monkeys exposed to different doses of whole-body irradiation. Application of 850-900 rad (8.5-9 Gy) caused cataracts in 17% of the monkeys within 3 years after treatment; after 10 to 15 years, incidence increased to 100%. "Young" lenses showed a significantly lower incidence than "adult" lenses, although no differences in the stage of cataractogenesis could be demonstrated. Sex differences did not play a role in incidence and severity of cataracts. Lower doses (400 rad or 4 Gy) did not cause cataracts. In view of the close similarity between monkeys and humans, these results indicate that a single dose of 850-900 rad, sometimes employed in the treatment of acute myeloid leukemia in children, carries a strong risk of cataract development.

Animals↗

PubMed1976

Syndermatotic cataract in patients with psoriasis.

266 consecutive in-patients, more than 10 years of age (mean age 24.7) and suffering from psoriasis have been examined with slit lamp and ophthalmoscope to determine the incidence of cataract among such patients. 188 (70%) had clear lenses. 66(26%) presented some minute punctate opacities considered as physiological variations. Four had blue-dot cataract, and 6 had congenital or evolutionary small opacities at various sites in the lenses but without blurring of vision. Only one patient, aged 72, had crystalline cataract with slightly impaired vision. The conclusion is drawn that the incidence of cataract among patients with psoriasis does not exceed that in the normal population. Consequently, routine eye examinations for cataract are unnecessary in these patients.

Adolescent↗

PubMed1975

Cataracts in bleomycin-treated rats.

Bleomycin was administered to 126 normal or human-tumor-bearing baby rats we observed for the development of cataracts. Eighty-four percent of the rats receiving this drug before the age of 10 days developed lens opacities. Bleomycin given to 10-day-old rats or older did not induce cataract formation. The cataracts initially occurred in the nuclear area and later involved most of the lens whether or not bleomycin was later discontinued. The presence of the tunica vasculosa lentis in rats younger than 10 days old may explain why cataracts developed only in these young animals.

Age Factors↗

PubMed1977

[A new approach to cataract surgery. Extraction through the pars plana with a phakotribe ("lens gobbler") (author's transl)].

Lens extraction by the posterior route with the phakotribe keeps the complete anterior segment intact. The approach causes no inconvenience to the globe. An account of 18 months experience. The method enables extraction of the most delicate cataracts without subsequent procedures. Vision can be restored rapidly by a contact lens. However the indications must be well evaluated in experimental hands. This technique may be indicated in cataracts in children whether they are congenital or traumatic as well as in traumatic cataracts in adults.

Adult↗

PubMed1976

[The influence of cortisol treatment on the development of diabetic cataracts in rats (author's transl)].

The influence of daily subcutaneous cortisol injections (10 mg/kg) on the development of cataracts in streptozotocine (STR) diabetes was studied in 6 groups of Wistar rats (n = 10). Cataracts occurred only in the two groups subjected to high STR doses (60 mg/kg). We were astonished to find that in cortisol-treated diabetic animals there were lower blood glucose levels, fewer cases of glucosuria, and less pronounced cataracts than in rats treated with STR only. As STR had been administered after the start of cortisol therapy, it is assumed that the steroid had caused a protection of pancreatic B cells against STR and the onset of a less severe diabetes.

Animals↗

PubMed2025

Genome-wide DNA methylation and transcriptome sequencing analyses of lens tissue in an age-related mouse cataract model.

DNA methylation is known to be associated with cataracts. In this study, we used a mouse model and performed DNA methylation and transcriptome sequencing analyses to find epigenetic indicators for age-related cataracts (ARC). Anterior lens capsule membrane tissues from young and aged mice were analyzed by MethylRAD-seq to detect the genome-wide methylation of extracted DNA. The young and aged mice had 76,524 and 15,608 differentially methylated CCGG and CCWGG sites, respectively. The Pearson correlation analysis detected 109 and 33 differentially expressed genes (DEGs) with negative methylation at CCGG and CCWGG sites, respectively, in their promoter regions. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) functional enrichment analyses showed that DEGs with abnormal methylation at CCGG sites were primarily associated with protein kinase C signaling (Akap12, Capzb), protein threonine kinase activity (Dmpk, Mapkapk3), and calcium signaling pathway (Slc25a4, Cacna1f), whereas DEGs with abnormal methylation at CCWGG sites were associated with ribosomal protein S6 kinase activity (Rps6ka3). These genes were validated by pyrosequencing methylation analysis. The results showed that the ARC group (aged mice) had lower Dmpk and Slc25a4 methylation levels and a higher Rps6ka3 methylation than the control group (young mice), which is consistent with the results of the joint analysis of differentially methylated and differentially expressed genes. In conclusion, we confirmed the genome-wide DNA methylation pattern and gene expression profile of ARC based on the mouse cataract model with aged mice. The identified methylation molecular markers have great potential for application in the future diagnosis and treatment of ARC.

Animals↗

PubMed1977

[Changes of the corneal thickness after cataract extration (author's transl)].

A study of changes of the corneal thickness after cataract extraction was carried out on 149 patients. Cataract extraction was performed with partial knife incision or "ab externo" incision. The corneal thickness was measured with a Haag-Streit pachometer prior to cataract extraction and 4 days to 6 months after the operation. The investigation showed that the postoperative increase of the corneal thickness returns as before the operation.

Cataract Extraction↗

PubMed1978

Glucose 6-phosphate dehydrogenase variants: Gd (+) Alexandra associated with neonatal jaundice and Gd (-) Camperdown in a young man with lamellar cataracts.

Two male subjects are described, with unusual clinical presentations and with hitherto undescribed G6PD variants. The first, of Italian extraction, suffered from severe neonatal jaundice following maternal ingestion of fresh broad beans (Vicia fava) both prenatally and postnatally: the expression of the enzymatic defect was much more severe in the neonatal period than on retesting in adolescence, when biochemical characterization showed unique features which justify designation as a new variant Gd(+) Alexandra. The second patient, a boy of Maltese extraction who was found to have bilateral lamellar cataracts at the age of 4 years, was identified as G6PD deficient only as a result of a survey of children of Mediterranean origin with unexplained cataract formation; he has approximately 15% of normal enzyme activity, with another unique combination of biochemical characteristics which has led to its designation as Gd(-) Camperdown. Although this association may be coincidental, it prompts further attention to the possibility that under certain circumstances G6PD deficiency may favor cataract formation. The two cases illustrate the value of characterization of the mutant enzyme whenever unexpected clinical or laboratory results are obtained.

Adolescent↗

PubMed2026

Risk Factors and Predictive Model for Postoperative High Myopia in Children Undergoing Congenital Cataract Surgery With Intraocular Lens Implantation.

PURPOSE: To identify risk factors associated with the development of high myopia following congenital cataract surgery and to establish a robust predictive model. DESIGN: Retrospective clinical cohort study. SUBJECTS: This retrospective study included 106 pediatric patients who underwent congenital cataract surgery with primary IOL implantation (mean follow-up 8.19 years). The model was externally validated in an independent cohort of 72 patients with a mean follow-up of 7.83 years. METHODS: Preoperative and postoperative ocular biometric parameters were collected. Risk factors for postoperative high myopia were analyzed using Cox proportional hazards regression, which served as the basis for model construction. The predictive performance of the model was rigorously evaluated for discrimination and calibration. Discriminative ability was quantified using Harrell's C-index and the area under the receiver operating characteristic curve (AUC). Model calibration was assessed via calibration plots by comparing predicted probabilities with actual observed outcomes. Internal validation was performed using a bootstrapping method (500 iterations) to ensure model stability and adjust for potential overfitting. RESULTS: An initial postoperative refraction of <+0.75D, and a higher IOL Power to Axial length Ratio (IOL/AL ratio) were identified as significant risk factors for the development of postoperative high myopia. Shorter preoperative axial length was associated with a greater magnitude of postoperative myopic shift. The predictive model demonstrated robust performance, achieving a C-index of 0.711 (internal validation C-index: 0.713). The area under the receiver operating characteristic curve (AUC) values for predicting high myopia at 5 and 10 years were 0.858 and 0.745, respectively. Furthermore, calibration curves demonstrated excellent agreement between the predicted and observed outcomes throughout the follow-up period. In external validation, the model achieved a C-index of 0.825, 5-year AUC of 0.833, and 10-year AUC of 0.713. CONCLUSIONS: Our analysis established that initial postoperative refraction <+0.75D, and an elevated IOL/AL ratio are key determinants of high myopia risk following surgery. Shorter preoperative axial length was associated with a greater magnitude of postoperative myopic shift. This predictive framework provides clinicians with a practical tool to optimize preoperative IOL selection and identify high-risk infants who require vigilant myopia prevention and balanced amblyopia management.

Humans↗

PubMed2026

The Mechanism of Celosiae Semen in the Treatment of Diabetic Cataract: Based on Network Pharmacology.

INTRODUCTION: Diabetes mellitus can be complicated by a variety of ocular diseases, among which the postoperative complications of diabetic cataract (DC) are significantly higher than those of non-DC patients. Therefore, finding drugs with natural active ingredients is an urgent challenge in the prevention and treatment of DC. Discovering the potential molecular mechanism of celosiae semen (CS) for the treatment of DC and providing new ideas and programs for the treatment and prevention of DC. METHODS: In this study, network pharmacology, molecular docking, and molecular dynamics simulations were utilized to predict the binding and functional enrichment of the main active ingredients of CS with DC-related targets, and to explore the potential pathways and mechanisms of CS for the treatment of DC. RESULTS: Through database searching and screening, a total of 45 potential targets of CS for the treatment of DC were identified, functionally enriched, and a protein-protein interaction network was constructed, and the key target, SRC, was finally found. The results of molecular docking and molecular dynamics simulation showed that the main active ingredient of CS, stigmasterol, could bind stably to the key target SRC protein. DISCUSSION: This study not only elucidates the phyto-pharmacological basis of CS in DC management but also provides a framework for developing natural product-derived targeted therapies against diabetic ocular complications. The integration of modern genomics and computational chemistry to deconstruct the therapeutic effects of traditional Chinese herbal medicines has great clinical significance in expanding the scope of traditional Chinese medicines for the treatment of DC and promoting precision targeting. However, this requires verification through basic experiments. CONCLUSION: These computational findings suggest that CS may exert its anti-cataract effects through the multi-target modulation of diabetic metabolic pathways and SRC-mediated signaling cascades.

Humans↗

PubMed1975

Hereditary cataracts in deer mice (Peromyscus maniculatus).

A new type of hereditary cataract was predicted in the deer mouse (Peromyscus maniculatus) by the presence of syndactyly of the hind feet. Early morphologic changes were found in the equatorial cells that differentiated into new lens fibers. Later swelling at the anterior and posterior poles of these cells produced lens opacities. Anterior and posterior subcapsular cataracts progressed to a hypermature shrunken lens.

Animals↗

PubMed1979

Classification of hereditary cataracts in children by linkage analysis.

A total of 12-different types of hereditary cataracts have been positively assigned to the gene map. They are located on autosomes as well as on the X chromosome. This establishes several kinds of cataracts as distinct diseases caused by different mutations. In selected cases the information may be helpful for prenatal diagnosis.

Adolescent↗