No abstract

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 ϳ70 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.

Our findings demonstrate that MetS is independently associated with reduced RNFL thickness, suggesting that neurodegeneration is implicated in pathogenesis of MetS.

Mean IOP, CCT and VCDR were 14.2 ± 2.5 mmHg, 543 ± 35 μm and 0.32 ± 0.14, respectively, in healthy Iranians that is different from other ethnicities. It seems advisable to pay attention to ethnicity for interpretation of each person's variables.

Purpose. To evaluate the anatomic effects of phacoemulsification on drainage angle status in primary angle closure glaucoma (PACG) using anterior segment optical coherence tomography (AS-OCT). Methods. A total of 62 eyes of 58 patients underwent cataract surgery in Farabi Rye Hospital, Tehran, Iran. Patients were examined postoperatively on day 1, week 1, and week 6. Indentation gonioscopy and AS-OCT were performed preoperatively and at 6 weeks after surgery. Main outcome measures were angle and anterior segment parameters by AS-OCT and amount of peripheral anterior synechiae (PAS) by gonioscopy. Thirty-five eyes had PAS =180 degrees (group 1) and 27 eyes had >180-degree synechial closure (group 2). Results. Mean age of the patients was 64.3±9.0 years. The mean extent of PAS was significantly reduced from 45.9 to 32.2 degrees (p<0.03) in group 1, and from 277.4 to 159.0 degrees (p<0.001) in group 2. Group 2 showed significantly greater reduction in PAS extent (p<0.001). Angle opening distance and trabecular-iris space area at 500 µm from the scleral spur measured by AS-OCT increased significantly in both groups (p<0.001 for both). Anterior chamber depth (ACD) increased and lens vault (LV) decreased after both procedures. However, the amount of change in ACD and LV and angle parameters were not significant between the 2 groups. Conclusions. Phacoemulsification resulted in opening of the drainage angle, deepening of the anterior chamber, and reduction of PAS extent in PACG eyes with or without extensive PAS. Greater reduction of PAS could be considered in eyes with PAS >180 degrees.

Citation: Moghimi S, Mazloumi M, Johari MK, et al. Evaluation of lamina cribrosa and choroid in nonglaucomatous patients with pseudoexfoliation syndrome using spectral-domain optical coherence tomography. Invest Ophthalmol Vis Sci. 2016;57:129357: -130057: . DOI:10.1167 PURPOSE. To evaluate the lamina cribrosa (LC) and peripapillary choroid in patients with pseudoexfoliation syndrome (PXS). METHODS.In this cross-sectional study, one eye each of 32 nonglaucomatous PXS cases and 29 healthy volunteers were enrolled. The optic discs were scanned using enhanced depth imaging spectral-domain optical coherence tomography, and measurements were obtained using HEYEX software 6.0. LC and other related variables at three areas (mid-superior, center, and mid-inferior) and peripapillary choroidal thickness were determined. Linear mixed modeling was used to adjust the variables. RESULTS.After adjustment for age, sex, and axial length, there was no significant difference between the two groups in peripapillary choroidal thickness or in retinal nerve fiber layer thickness. The LC was significantly thinner in all three areas in the PXS group when compared with the control group, even after adjustment. Although no significant difference in central laminar depth was observed between the two groups (P ¼ 0.74), the superior and inferior laminar depth were significantly deeper in the PXS group when compared with the control group (P ¼ 0.04 and P ¼ 0.006, respectively). Although there was a significant negative association between age and central choroidal thickness in the control group (b ¼ À2.820, P ¼ 0.02), this correlation was not significant in the PXS group.CONCLUSIONS. We found that LC is significantly thinner in all three areas of the optic nerve head in nonglaucomatous PXS patients than in controls. Although no significant difference in peripapillary choroidal thickness was observed between the two groups, peripheral posterior displacement of LC in nonglaucomatous PXS eyes was noted.

Phacoemulsification with goniosynechialysis seems to be a safe and effective method for the management of patients with refractory AAC. This procedure can be considered for these patients before proceeding with filtering surgery.

Both Phaco alone and Phaco-VGP resulted in widening of the drainage angle, deepening of the anterior chamber and reduction of intraocular pressure (IOP) and PAS extent in PACG eyes. Phaco-VGP resulted in significantly more reduction of PAS. However, it seems that additional VGP has no significant effect on short-term IOP.