Prevalence of risk alleles in the lysyl oxidase-like 1 gene in pseudoexfoliation glaucoma patients in India.

Purpose: The purpose of this study was to genotype two previously identified SNPs (rs1048661:R141L, and rs3825942:G153D) in the lysyl oxidase-like 1 (LOXL1) gene and determine their association with pseudoexfoliation glaucoma (XFG) in patients from Pune, India. Methods: All subjects underwent detailed phenotyping, and DNA extraction was performed on blood samples by using standardized techniques. Exon 1 of the LOXL1 gene containing the SNPs (rs3825942:G153D; rs1048661:R141L) were Sanger sequenced, and the results were analyzed using sequence analysis software SeqScape 2.1.1. Results: Data were analyzed from 71 patients with XFG and 81 disease-negative, age-matched controls. There was a strong association between the G allele of rs3825942 and XFG with an odds ratio of 10.2 (CI: 3.92-26.6; P < 0.001). The G allele of rs1048661 also showed an increase in risk relative to the T allele (OR = 1.49; CI: 0.88-2.51; P = 0.13), but this was not significant. Haplotype combination frequencies were estimated for rs1048661 and rs3825942; the GG haplotype was associated with a significant increase in risk (OR = 3.91; CI: 2.27-6.73; P < 0.001). Both the GA and TG haplotypes were associated with decreased XFG risk, although the latter was not significant (GA: OR = 0.08; CI: 0.03-0.21; P < 0.001; TG: OR = 0.67; CI: 0.40-1.13; P = 0.13). Conclusion: The risk G allele in rs3852942 (G153D) is strongly associated with the development of XFG in the Western Indian population. Genetic screening strategies to identify LOXL1 risk alleles in the population can assist in case definition and early diagnosis, targeting precious resources to high-risk patients.

Retrospective analysis of silicon intubation by Ritleng probe and Sutupak suture fixed in silicone tube in congenital nasolacrimal duct obstruction.

Purpose: The aim of this study was to perform a retrospective review of the outcome of silicon intubation using the Ritleng probe and a modified braided silk suture (Ethicon Sutupak) fixed in a silicone tube in children with congenital nasolacrimal duct obstruction (CNLDO). Methods: Records of all children between 1 and 12 years of age who underwent silicone tube intubation with the Ritleng probe and Ethicon Sutupak suture (2-0) fixed in silicone tube for CNLDO with a minimum of 1-year follow-up were identified. The hollow Ritleng probe was inserted via the canaliculus into the inferior meatus. The Sutupak thread-guide, attached to the silicone tube, was advanced through the probe lumen and retrieved using a hook under endoscopic visualization. The tube ends were tied to each other and tube removal was planned after 3 months. Absence of watering, discharge, and matted lashes after removal of silicone tube was defined as success. Results: One hundred and fifty-two eyes of 152 children with a mean age of 3.26 ± 2.3 years were included in the study. The procedure was successful in 145 eyes (95%) after removal of the silicone intubation with relief of symptoms observed in most patients by fifth-day follow-up (n = 120 eyes, 83%). The mean duration of follow-up was 3.48 ± 1.3 years. No other significant differences were observed between patients who did (n = 47) and did not (n = 105) have previous probing including success rates (95% vs. 96%, P = 0.89). Conclusion: Silicone intubation with Ritleng probe and Sutupak suture fixed in silicone tube was successful in resolution of symptoms of CNLDO in majority of patients. Using a low-cost suture did not affect success rates.