Genotyping results of Iranian PCG families suggests one or more PCG locus other than GCL3A, GCL3B, and GCL3C exist.

PURPOSE: To assess whether loci other than GLC3A, GLC3B, and GLC3C are linked to primary congenital glaucoma (PCG). METHODS: The gene CYP1B1 at GLC3A was screened in 19 Iranian PCG probands who had been recruited mostly from among individuals of Turkish ethnicity and individuals from central and eastern Iran. The gene MYOC was screened in patients from this cohort who lacked CYP1B1 mutations and in ten patients previously shown not to carry CYP1B1 mutations. Family members of 19 probands without mutations in either of these genes were recruited for assessment of linkage to GLC3B and GLC3C by genotyping microsatellite markers. In total, 127 individuals, including 35 affected with PCG, were genotyped. RESULTS: Eleven (57.9%) of the newly recruited PCG patients did not carry disease-associated mutations in CYP1B1. Disease-associated MYOC mutations were not observed in any of the patients screened. Inheritance of PCG in all the families was consistent with an autosomal recessive pattern. Linkage to GLC3B and GLC3C was ruled out in nine of the families on the basis of autozygosity mapping and haplotype analysis. CONCLUSIONS: Observation of the absence of linkage to GLC3B and GLC3C in at least nine families without CYP1B1 mutations suggests that at least one PCG-causing locus other than GLC3A, GLC3B, and GLC3C may exist. The disease-causing gene or genes in the novel locus or loci may account for PCG in a notable fraction of Iranian patients.

Aspheric profile versus wavefront-guided ablation photorefractive keratectomy for the correction of myopia using the Allegretto Eye Q.

PURPOSE: To compare the results of photorefractive keratectomy (PRK) with Q-factor customized aspheric ablation and wavefront-guided customized ablation for correction of myopia compound with astigmatism. METHODS: Fifty-six patients were enrolled in this prospective controlled study. In each patient, one eye was randomly assigned for treatment with the Q-factor customized PRK (custom-Q study group) and the other eye treated with wavefront-guided customized PRK. Preoperative and 3-month postoperative manifest refraction, contrast sensitivity, visual acuity, aberrometry, and asphericity of the cornea were compared between the two groups. All eyes were treated with the Wavelight Eye-Q 400 Hz excimer laser in a single refractive surgery center by a single surgeon. RESULTS: Uncorrected visual acuity (UCVA) improved to 20/20 or more and 20/25 or more in 34 eyes (60.7%) and 56 eyes (100%), respectively, in the wavefront-guided ablation group and in 36 eyes (64.2%) and 54 eyes (96.4%) in the custom-Q ablation group. All eyes had UCVA of 20/40 or better. A total of 54 eyes (96.4%) in the wavefront-guided ablation group and 56 (100%) in the custom-Q ablation group had spherical equivalent (SE) within -/+0.5 D. One eye in each group (2%) lost >or=2 lines of best-corrected visual acuity (BCVA). High order root mean square (RMS) in the wavefront-guided group was 0.3630-/+0.13 mum preoperatively and 0.427-/+0.17 at 3 months (p=0.2). In the custom-Q ablation group it was 0.329-/+0.092 preoperatively and 0.4730-/+0.181 at 3 months after PRK (p=0.08). CONCLUSIONS: Regarding safety and refractive efficacy, custom-Q ablation profiles were clinically equivalent to wavefront-guided profiles in corrections of myopia up to -6.00 D and astigmatism up to 2.50 D.

Efficacy of the latanoprost versus timolol/dorzolamide combination therapy in patients with primary open angle glaucoma.

OBJECTIVE: Efficacy of the latanoprost versus timolol/dorzolamide combination therapy in patients with primary open angle glaucoma METHODS: The study was designed as a 6 months randomized, observer-masked study comprising 120 patients with primary open-angle glaucoma in Feiz Hospital, Isfahan, Iran, from 2006 to 2007. The patients were randomized (latanoprost, n = 60; dorzolamide/timolol, n = 60) to treatment with either latanoprost, 0.005% once daily, or the combination of timolol 0.5% twice daily, and dorzolamide 2% 3 times daily. The mean intraocular pressure (IOP) after one, 3, and 6 months of treatment was compared with baseline in the 2 groups. RESULTS: A total of 120 patients were randomized to 2 equal treatment groups. The mean baseline IOP values were similar between the 2 groups. The mean (standard error of mean [SE]) IOP reductions at months one was 7.2 (0.4), at month 3 was 7.3 (0.4), and at month 6 was 7.1 (0.3) mm Hg for the latanoprost group and 7.5 (0.3), 7.8 (0.3), and 7.4 (0.3) mm Hg for the dorzolamide/timolol group. The 2 therapies were similarly effective. CONCLUSION: The latanoprost and dorzolamide/timolol combination were equally effective at lowering IOP compared to untreated baseline.

CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.

The mutation spectrum of CYP1B1 among 104 primary congenital glaucoma patients of the genetically heterogeneous Iranian population was investigated by sequencing. We also determined intragenic single nucleotide polymorphism (SNP) haplotypes associated with the mutations and compared these with haplotypes of other populations. Finally, the frequency distribution of the haplotypes was compared among primary congenital glaucoma patients with and without CYP1B1 mutations and normal controls. Genotype classification of six high-frequency SNPs was performed using the PHASE 2.0 software. CYP1B1 mutations in the Iranian patients were very heterogeneous. Nineteen nonconservative mutations associated with disease, and 10 variations not associated with disease were identified. Ten mutations and three variations not associated with disease were novel. The 13 novel variations make a notable contribution to the approximately 70 known variations in the gene. CYP1B1 mutations were identified in 70% of the patients. The four most common mutations were G61E, R368H, R390H, and R469W, which together constituted 76.2% of the CYP1B1 mutated alleles found. Six unique core SNP haplotypes were identified, four of which were common to the patients with and without CYP1B1 mutations and controls studied. Three SNP blocks determined the haplotypes. Comparison of haplotypes with those of other populations suggests a common origin for many of the mutations.

Alcohol-assisted versus Mechanical Epithelium Removal in Photorefractive Keratectomy.

PURPOSE: To compare the outcomes and complications of alcohol-assisted versus mechanical corneal epithelial debridement for photorefractive keratectomy (PRK). METHODS: This randomized controlled trial included 1,250 eyes of 625 patients undergoing PRK for correction of myopia and myopic astigmatism. Each patient was randomly assigned to alcohol-assisted or mechanical epithelial removal. RESULTS: A total of 658 eyes underwent alcohol-assisted epithelial removal while the epithelium was removed mechanically in 592 eyes. Mean spherical equivalent was -4.37±2.3 D in the alcohol group and -3.8±1.3 D in the mechanical group (P = 0.78). There was no significant difference in postoperative pain between the study groups (P = 0.22). Uncorrected visual acuity ≥ 20/20 and ≥ 20/40 was achieved in 90.9% versus 93.4% (P = 0.08), and 98.9% versus 99.5% (P = 0.36) of eyes in the alcohol and mechanical groups, respectively. Final refractive error within 1D of emmetropia was achieved in 90% versus 92.2% of eyes in the alcohol and mechanical groups, respectively (P = 0.23). Alcohol-assisted debridement required less time than mechanical debridement (96±18 vs. 118±26 seconds, P=0.035). There was no significant difference between the two groups in terms of early and late postoperative complications. CONCLUSION: Alcohol-assisted and mechanical epithelium removal are comparable in terms of efficacy and side effects. The method of epithelial debridement in PRK may be left to the surgeon's choice.