Indian Journal of Ophthalmology最新文献

Purpose: Age-related macular degeneration (AMD) is a leading cause of irreversible vision loss in the elderly. This study investigated the association of single-nucleotide polymorphisms (SNPs) in ARMS2, HTRA1, and CFH with AMD and its clinical phenotypes and systemic cytokine profiles in a North Indian population.

Method: A total of 113 AMD patients and 99 controls were genotyped using TaqMan assays. All patients underwent detailed ophthalmic evaluations, including optical coherence tomography (OCT), fundus photography, and angiography-based imaging. Serum cytokine levels were quantified using bead-based multiplex immunoassay and analyzed via flow cytometry. Statistical analyses were performed using SPSS v23.0, employing t-tests, ANOVA, and Mann-Whitney U tests.

Results: Significant associations were observed between AMD and control for risk alleles in ARMS2 (36.3% vs 10.1%, P = 0.001), HTRA1 (37.2% vs 33.3%, P = 0.003), and CFH (27.4% vs 13.1%, P = 0.001). Genotype-phenotype correlations revealed that heterozygous and homozygous risk genotypes were significantly associated with hallmark AMD features such as pigment epithelial detachment (PED), choroidal neovascular membrane (CNVM), large drusen, and retinal pigment epithelium (RPE) atrophy. Cytokine profiling showed significantly reduced levels of erythropoietin (EPO) in AMD patients and granulocyte colony-stimulating factor (G-CSF) in controls (P = 0.044 and P = 0.023).

Conclusion: This study establishes novel genotype-phenotype correlations for ARMS2, HTRA1, and CFH SNPs in a North Indian cohort, linking heterozygous/homozygous risk alleles to distinct AMD clinical features. Reduced EPO and G-CSF levels suggest impaired neuroprotective/anti-inflammatory mechanisms, revealing dual pathways in AMD pathogenesis. By integrating these findings with global data, future efforts can deepen our understanding of AMD's complex etiology and improve patient outcomes worldwide.

Purpose: Fuchs endothelial corneal dystrophy (FECD) results in the death of the nonproliferative endothelial cells of the posterior corneal surface, leading to corneal swelling, clouding, and potential blindness. Few studies have suggested the potential role of transcription factors in the endothelial to mesenchymal transition (EnMT) during disease progression. This study aimed to evaluate the expression of selected transcription factors in the corneal endothelium of FECD patients to understand their role in disease pathogenesis.

Design: This is a prospective, pilot, case-control study for studying the gene expression in patients with FECD. Transcription factors ZEB1, TCF4, smad proteins (SMAD3, SMAD4), zinc finger proteins SNAI1 and SNAI2, lymphoid enhancer binding factor 1 (LEF1), N-cadherin (CDH2), claudin 10 (CLDN10), and nuclear factor (erythroid-derived 2)-like 2 (NFE2L2/NRF2), which are involved in the EnMT, were selected for the study. Fourteen FECD endothelia were compared with 15 control endothelia for the gene expression analyses using quantitative real-time PCR.

Results: Significant differential expressions were seen in the levels of SMAD3 (P = 0.0251) in moderate cases compared to control tissues. Further, TCF4 and NFE2L2 showed significantly different expressions among the moderate and severe cases (P = 0.0262 and P = 0.0350, respectively), with expressions decreasing with severity, indicating their possible role in disease progression.

Conclusions: Our pilot study on transcription factor gene expressions in FECD patients' tissue samples suggests NRF2 and TCF4 to play an important role in the disease pathogenesis and progression.

Surgical care for the disease is required in a significant number of people worldwide. In India, approximately 4% of the population needs surgical care. In ophthalmology, lens-based surgeries account for a significant contribution to the list. In this massive volume of surgeries, a proper sterilization process is vital for the successful outcome of these surgeries. Healthcare professionals must have an in-depth understanding of the sterilization process, which helps reduce complications and prevent terminal events.

Purpose: To investigate the expression of interleukin-6 (IL-6) and its associated downstream genes within iris tissues of primary open-angle glaucoma (POAG), primary angle-closure glaucoma (PACG), and secondary glaucoma (neovascular, traumatic, and uveitic) subjects, assess cytokines correlation and their influence on trabeculectomy success.

Methods: This prospective single-center study analyzed IL-6 and its downstream signaling molecules expression levels by real-time polymerase chain reaction (RT-PCR) that consisted of 25 glaucoma eyes (POAG: 10, PACG: 8, secondary glaucoma: 7) and nine eyes from the corneoscleral rims that served as controls. Correlation matrices assessed the association between these factors and trabeculectomy outcomes.

Results: Compared to controls, a significant downregulation of IL-6 expression (Control vs. POAG P = 0.004, Control vs. PACG P = 0.002); IL-6R (Control vs. POAG P = 0.0002, Control vs. PACG P = 0.012); gp130 (Control vs. POAG P = 0.003) was observed in primary glaucoma. Also, differential expression of apoptosis markers BAX (Control vs. POAG P = 0.043); BCL-2 (Control vs. POAG P = 0.002, Control vs. PACG P = 0.007), and fibrotic markers α-SMA (Control vs. POAG P = 0.01, Control vs. PACG P = 0.04) was observed. Similar cytokine expressions were observed in secondary glaucoma compared to the controls. The overall success rate of trabeculectomy was 94.11% at three months postoperatively. A significant correlation was found between IL-6R and its downstream targets.

Conclusion: These findings suggested that in glaucomatous irises, altered IL-6/STAT3 signaling indicates a balance between pro- and anti-inflammatory factors, potentially explaining trabeculectomy's early effectiveness via this immunological balance.