Indian Journal of Ophthalmology最新文献

Purpose: Idiopathic posterior uveitis (IPU) is a vision-threatening inflammatory condition affecting the posterior segment of the eye with poorly understood molecular mechanisms. This study aimed to identify the key molecular actors and functional pathways involved in IPU using protein-protein interaction (PPI) network analysis.

Design: In silico bioinformatics study using PPI network analysis to identify key molecular pathways in IPU.

Methods: Sixteen proteins previously linked to IPU pathogenesis were identified in a comprehensive literature review. These seed proteins were used to query the STRING v12 database to retrieve high-confidence interactions (score ≥ 700). An expanded PPI network was built and analyzed using Python tools, including NetworkX and Louvain community detection algorithm. Topological metrics (degree, betweenness, and eigenvector centrality) were calculated to identify the hub and bottleneck proteins. Functional enrichment analysis was performed to assess the biological significance.

Results: The resulting PPI network consisted of 260 proteins and 281 interactions. The network exhibited a low density (0.008) but a high modularity (0.8426), which is consistent with typical biological networks. Key hub proteins included PDGFRB, ORM1, IL23A, and TIMP1. Proteins such as IL6, KITLG, and STAT4 emerged as critical bottlenecks based on betweenness centrality. Multimetric centrality analysis highlighted TIMP1, TIMP2, KITLG, and IL6 as potential master regulators.

Conclusion: The findings highlight the inflammatory, structural, and neurotrophic pathways as key components of disease pathogenesis, suggesting novel molecular targets for future therapeutic investigations. PPI network analysis offers a robust framework for uncovering the disease mechanisms in complex ocular inflammatory conditions.

Purpose: The present study screened eight families (comprising 25 affected and unaffected individuals, along with ten unrelated controls) to identify known and potentially novel mutations in the human γ-crystallin (CRYG) genes using Sanger bidirectional sequencing.

Methods: A hospital-based cross-sectional study was conducted to assess genetic mutations associated with congenital cataract. Clinical data and family history of the patients attending the hospital were recorded. Peripheral blood (2-3 ml) was collected from affected and unaffected family members having congenital cataract. Genomic DNA was extracted, and the candidate genes were amplified using gene specific primers. The polymerase chain reaction products were sequenced bidirectionally to analyze the cosegregation of the genotype with the disease phenotype, and the sequences were compared with NCBI reference sequences.

Results: Analysis of families with inherited cataract revealed two reported single-nucleotide polymorphisms (SNPs) associated with congenital cataract, one in the promoter region of CRYGB gene (c.-47T > C) and the other one in the exon 2 of CRYGD (c.51T>C). One mutation (c.24G>C, p.Glu8Asp) was observed in CRYGD cosegregating with the lamellar cataract in the family. No unaffected family member or healthy unrelated control was identified to have the mutation.

Discussion: The association of rs2289917 (c.-47T>C) with inherited cataract substantiates the previous findings. Earlier studies from other regions of India report that a putative Ikaros1 binding site between the TATA box and the transcription start site is destroyed by c.-47T>C nucleotide change in CRYGB. Conclusion: Thus, the rs2289917 risk allele was found to have a substantial association with an elevated risk of congenital cataract.

Diabetic retinopathy (DR) represents a vision-threatening complication of diabetes, characterized by progressive damage to the retinal neurovascular network in both type 1 and type 2 diabetes. This condition disrupts the delicate cellular interactions within the neurovascular unit (NVU), where advanced glycation end products (AGEs) emerge as key contributors to this dysfunction. While the precise mechanisms of AGE-induced damage remain under investigation, current evidence implicates multiple pathways: the AGE-RAGE signaling axis, oxidative stress generation, inflammatory cascades, and activation of cell death programs. Notably, the irreversible loss of retinal neurons directly correlates with vision decline in diabetic patients, highlighting the urgent need for neuroprotective strategies. Among potential therapeutic targets, AGEs present a promising focus for intervention, given their central role in NVU deterioration. This review helps us in the current knowledge about AGE-mediated neurovascular dysfunction, and it also explores emerging treatment approaches, particularly antiglycation therapies aimed at preserving NVU integrity in DR. It also examines promising preclinical and clinical therapies and identifies critical research gaps-such as the need for better biomarkers of AGE activity and personalized treatment approaches.

Purpose: To evaluate the usefulness of a low-volume multiplex direct polymerase chain reaction (PCR) in identifying pathogens in intraocular fluid in infectious uveitis.

Design: Prospective interventional non-comparative study.

Methods: At a tertiary hospital, the study included 57 participants with active and presumed infectious uveitis and 47 controls (24 active and presumed non-infectious uveitis and 23 non-uveitic conditions). Among the presumed infectious uveitis, there were anterior (38.6%), posterior (19.3%) herpetic uveitis, ocular toxoplasmosis (35.1%), and others (7.0%). Samples (20 µL; 98 aqueous/6 vitreous humors) were analyzed by multiplex direct-strip PCR. It detected six herpesviruses, human T-cell lymphotropic virus (HTLV), Treponema pallidum, and Toxoplasma gondii.

Results: PCR positivity was 35.1%, with detection of herpesviruses [Epstein-Barr virus (EBV), n = 3; cytomegalovirus, n = 2; human herpesvirus 6, n = 2; human herpes virus 1, human herpesvirus 2, varicella zoster virus (VZV), n = 1 for each], T. gondii (n = 9), and T. pallidum and HTLV-I/II in one sample each. All EBV-positive cases had another primary diagnosis (toxoplasmosis or VZV retinitis). Four presumed herpetic infectious uveitis cases turned out to be non-infectious uveitis, including one intraocular lymphoma diagnosis. Presumed posterior herpetic uveitis (n = 3) and ocular syphilis (n = 1) turned out to be ocular toxoplasmosis, whereas one presumed ocular toxoplasmosis turned out to be posterior herpetic uveitis. PCR changed the initial diagnoses in 17.5% of cases. All control samples were PCR-negative.

Conclusions: Direct-strip PCR may contribute to identifying the etiology of infectious uveitis by using limited sample volumes, no DNA extraction step, with rapid results and testing simultaneously for multiple pathogens.

Purpose: Ocular morbidities in school children are often preventable or treatable. This study aimed to determine the prevalence of eye disorders among students in the field practice area of a medical college in Central India.

Methods: An observational study was conducted in seven schools near a Central Indian medical college. A total of 2216 students (1215 males, 1001 females, aged 6-16 years) underwent screening by trained medical student-supervisors. Assessments included visual acuity, pinhole vision, color vision, and strabismus. Anterior segment examination was performed. Students with suspected issues were referred for comprehensive evaluation. Statistical analysis using the Chi-square test was conducted.

Results: The overall prevalence of ocular morbidity was 12.9%, predominantly uncorrected refractive error (9.5%). Morbidity was slightly higher in females (13.1%) than in males (12.7%), with the uncorrected refractive error significantly more common in females (P < 0.05) and color vision deficiency in males (P < 0.05). Private school children had a higher refractive error (13.2% vs 8.8%, P = 0.002), while vitamin A deficiency occurred only in government schools (P = 0.0004). Visual impairment was seen in 2.8%, differing significantly by sex (P = 0.002) and age group (P = 0.004). Nearly 96% of identified morbidities were preventable or treatable.

Conclusions: A significant prevalence of ocular morbidities, particularly URE and VAD, exists among school children in this central Indian region. Age and gender are significant factors for URE. Improved school-based screening with effective referral systems and community education are crucial for addressing childhood visual impairment in this area.