Posterior capsular opacification (PCO) remains a significant complication following cataract surgery, with an unclear pathogenesis in patients with high myopia. This study investigated the aqueous humor (AH) cytokine profile in patients with cataracts and high myopia and its relationship with the development of PCO. AH samples were collected from 36 patients undergoing cataract surgery, including 18 with high myopia (axial length > 26 mm) and 18 age- and sex-matched controls. The levels of 19 PCO-associated cytokines were measured using a multiplex immunoassay, and PCO severity was assessed at 6 months postoperatively. Compared to controls, patients with high myopia exhibited significantly elevated levels of vascular endothelial growth factor (VEGF)-C, hepatocyte growth factor (HGF), monocyte chemoattractant protein-1 (MCP-1), and osteopontin, alongside reduced VEGF-A levels (all P < 0.01). Axial length correlated positively with VEGF-C, HGF, MCP-1, and osteopontin but negatively with VEGF-A. Increased PCO severity was associated with higher VEGF-C, HGF, MCP-1, and osteopontin levels, while VEGF-A levels were inversely related. These findings suggest that high myopia is linked to a distinct pro-inflammatory and pro-fibrotic cytokine environment, potentially exacerbating PCO. Identifying these cytokines as potential biomarkers may aid in early risk stratification and inform therapeutic strategies to prevent PCO in individuals with high myopia.

Background: The aim of this study was to explore the association between diabetic retinopathy (DR) and the variants of uncoupling proteins (UCPs) genes in a Chinese population of type 2 diabetes, in total and in patients of different glycemic status separately. Methods: This case-control study included a total of 3107 participants from two datasets, among which 662 were DR patients (21.31%). Eighteen tag single nucleotide polymorphisms (SNPs) of UCP1, UCP2, and UCP3 were selected as genetic markers. TaqMan probes, Sequenom MassARRAY MALDI-TOF mass spectrometry platform and Affymetrix Genome-Wide Human SNP Array were used for genotyping. Online SHEsis software was used for association analysis. Bonferroni correction was used for multiple comparisons correction. Results: Three SNPs of UCP1: rs7688743 (A allele, OR = 1.192, p = 0.013), rs3811787 (T allele, OR = 0.863, p = 0.023), and rs10011540 (G allele, OR = 1.368, p = 0.004) showed association with DR after the adjustment of glucose, but only rs10011540 was marginally significantly associated with DR when Bonferroni correction was strictly applied (p_adj = 0.048). In patients with uncontrolled glucose, rs7688743 (A allele, p = 0.012, OR = 1.309), rs10011540 (G allele, p = 0.033, OR = 1.432), and rs3811787 (T allele, p = 0.022, OR = 0.811) were associated with DR, while in participants with well controlled glucose, the rs2734827 of UCP3 was associated with DR (A allele, p = 0.017, OR = 0.532). Rs3811787 of UCP1 showed a protective effect to sight threatening DR (T allele, p = 0.007, OR = 0.490), and the association existed after the adjustment for environmental factors and the correction. In patients with uncontrolled glucose, the rs3811787 of UCP1 (T allele, p = 0.017, OR = 0.467) and the rs591758 of UCP3 (C allele, p = 0.026, OR = 0.103) were associated with STDR. While in those with well controlled glucose, only the rs7688743 of UCP1 showed a protective effect (A allele, p = 0.024, OR = 0.049). None of the associations remain significant when Bonferroni correction was strictly applied (all p < 0.05). Conclusions: The rs10011540 and rs3811787 of the UCP1 gene was marginally significantly associated with DR in Chinese type 2 diabetes patients. There might be different mechanisms of DR development in patients with different glycemic status.

AIM: To identify the differential methylation sites (DMS) and their according genes associated with diabetic retinopathy (DR) development in type 1 diabetes (T1DM) children. METHODS: This study consists of two surveys. A total of 40 T1DM children was included in the first survey. Because no participant has DR, retina thinning was used as a surrogate indicator for DR. The lowest 25% participants with the thinnest macular retinal thickness were included into the case group, and the others were controls. The DNA methylation status was assessed by the Illumina methylation 850K array BeadChip assay, and compared between the case and control groups. Four DMS with a potential role in diabetes were identified. The second survey included 27 T1DM children, among which four had DR. The methylation patterns of the four DMS identified by 850K were compared between participants with and without DR by pyrosequencing. RESULTS: In the first survey, the 850K array revealed 751 sites significantly and differentially methylated in the case group comparing with the controls (|Δβ|>0.1 and Adj.P<0.05), and 328 of these were identified with a significance of Adj.P0.05) between participants with and without DR. CONCLUSION: The hypermethylation of the TCERG1L gene is a risk factor for DR development in Chinese children with T1DM.

Background: To identify the differential methylation sites (DMS) and their according genes associated with diabetic retinopathy (DR) development in type 1 diabetes (T1DM) children. Methods/Results: This study consists of two surveys. 40 T1DM children with no DR participated in the first survey. Their DNA methylation status was assessed by the Illumina methylation 850K array BeadChip assay. Comparison of the methylation patterns was made between participants with macular retinal thinning (cases) and the others (controls). The second survey included 27 T1DM children, among which 4 had DR. Pyrosequencing was used to validate the results of the 850K array, and the methylation patterns of four DMS was compared between participants with and without DR.In the first survey, the 850K array revealed 751 sites significantly and differentially methylated in the case group comparing with the controls (|Δβ|> 0.1 and Adj.P-value <0.05), while 328 of these were identified with a significance of Adj.P0.05) between participants with and without DR.Conclusions: The hypermethylation of the TCERG1L gene is a risk factor for DR development in Chinese children with T1DM.

Purpose: This study aims to explore the clinical features and genetic findings associated with X-linked juvenile retinoschisis (XLRS) in affected patients. Methods: This study included 16 patients with XLRS from 13 unrelated families between 2016 and 2024. Genomic DNA from peripheral blood leukocytes of the probands were subjected to whole-exome sequencing or direct sequence. Comprehensive analyses of molecular genetic profiles and detailed ophthalmic evaluations were performed. Results: We identified 12 retinoschisin 1 ( RS1 ) variants, and five of them were novel. Missense variants (7/9, 75%) in the discoidin domain were the most common mutations. All 16 patients aged 4–45 years old were males, and the mean visual acuity was 0.58 ± 0.49 (Log MAR). The funduscopic observations were consistent with typical XLRS presentations. Notably, distinctive clustered pigmentation exhibited 75% penetrance (3/4 cases) in individuals harboring the novel Q43* mutation. Optical coherence tomography revealed macular schisis in 27 eyes (87.1%), peripheral schisis in six eyes (19.35%), and retinal atrophic changes in five eyes (16.13%). Schisis predominantly affected the inner nuclear layer (27/31, 87.10%). Additionally, other less common abnormalities included asymmetric schisis in patients with the R182C variant, presenting with schisis in one eye and a relatively normal fellow eye. Furthermore, two individuals with the Q43* nonsense mutation exhibited mild electroretinogram abnormalities with a preserved b-to-a amplitude ratio. Given these findings, larger multicenter studies are warranted to validate the observed associations. Conclusion: This study comprehensively analyzed the genetic and clinical features of XLRS in a northern Chinese cohort. Five novel variants were identified, expanding the known mutational spectrum and enriching the clinical manifestation. Distinct pigment clusters (Q43*) and asymmetric schisis (R182C) appeared consistently within our limited cohort carrying specific mutations, which may potentially facilitate the diagnosis of XLRS.