Outcomes of cataract surgery with/without vitrectomy in patients with pars planitis and immunosuppressive therapy.

BACKGROUND: The purpose of this study was to evaluate the characteristics and outcomes of cataract surgery with/without vitrectomy in patients with pars planitis who received immunosuppressive therapy. METHODS: This was a retrospective case series, single-center study. Twenty-two patients with pars planitis who received immunosuppressive therapy were included, with a median age at presentation of 9.5 years, having had cataract surgery. The following data was collected: age at presentation and at cataract surgery, time of follow-up, best-corrected visual acuity (BCVA) before the surgery and at 1 week, 1 and 6 months after the procedure, immunosuppressive therapy, complications and causes for failed visual improvement. The variables associated with an improvement in visual acuity were evaluated. RESULTS: All patients had phacoemulsification with intraocular lens implantation. The most common immunosuppressive therapy used for the patients was methotrexate in nine patients (40.9%). The BCVA improved from a median of 20/400 to 20/100 after 6 months of follow-up (p = 0.0005); 14 patients (63.6%) improved two lines of vision or more. No significant risk factors were found for the association with improvement in visual acuity after the surgery. No improvement in visual acuity was attributed to posterior segment manifestations or amblyopia; the most common complication was posterior capsule opacification in 11 eyes (50%). The median follow-up after the surgery was 32 months. CONCLUSION: Phacoemulsification was the procedure for all the patients. Visual acuity improved in patients with pars planitis treated with immunosuppressive drugs who underwent cataract surgery, except for the patients with posterior segment complications or amblyopia.

MSX1 gene polymorphisms in Mexican patients with non-syndromic cleft lip/palate.

OBJECTIVE: Non-syndromic cleft lip/palate malformation (CL/P) is one of the most common birth defects in humans and has a complex etiology involving genetic and environmental factors. Mutations in the MSX1 gene are critical during craniofacial development. The purpose of this study was to investigate the contribution of MSX1 gene polymorphisms to the risk of developing CL/P in a sample of Mexican patients. METHODS: The sample consisted of 282 subjects (69 cases and 213 relatives). Four single-nucleotide polymorphisms (SNP1, P147Q, SNP5 and P278S) were tested for association with CL/P in triad and case-pseudo-control analyses. Polymorphism typing was performed by restriction fragment length polymorphism and dot-blot techniques. Allele and genotype frequencies were calculated between patients and pseudo-controls and compared using the Chi square test with Yates correction. Odds ratios and 95% confidence intervals were obtained using SPSS software (v19). Triad analysis was also performed using the program HAPLIN (v5.3). RESULTS: In the cases and pseudo-controls, an association was found between CL/P and the SNP1-G allele (P = 0.031) and the SNP1-G/G genotype (P = 0.032), a polymorphism located near MSX1. Triad analysis showed a tendency toward CL/P susceptibility for the genotype SNP1-G/G (P = 0.075) and an association between CL/P and the haplotype GCTC (P = 0.037). No associated haplotype was found in the cases and pseudo-controls. Two partial haplotypes, GT (SNP1-SNP5) (P = 0.032) and GC (SNP1-P278S) (P = 0.033), were associated with susceptibility in the heterozygous and homozygous types, respectively. In contrast, haplotype AT (SNP1-SNP5) was associated with protection (P = 0.012) in the homozygous type. CONCLUSIONS: The results of this study suggest an association between CL/P susceptibility and SNP1, located near the MSX1 gene, in the Mexican population.