Phenotype and Genotype Correlation in Iranian Primary Congenital Glaucoma Patients.

PURPOSE: To explore the correlation between clinical manifestations of primary congenital glaucoma (PCG) and CYP1B1 mutations. METHODS: A clinical and molecular genetic study was performed on a cohort of 17 patients with PCG and known CYP1B1 mutation profile including 10 subjects with and 7 cases without mutations. Ophthalmolgical records were reviewed and phenotype which was defined by age at onset, presenting intraocular pressure (IOP), corneal diameter, and vertical cup to disc ratio, and the number of procedures was correlated with the presence or absence of CYP1B1 mutations. RESULTS: Overall, 8 mutations were identified in 10 patients. The disease became manifest earlier than 1 month of age in 9 of 10 (90%) cases with, as compared with 2 of 7 (28.6%) patients without mutations (P=0.035). Baseline IOP was 29.3±6.5 mm Hg in the mutation-positive group versus 17.6±3.7 mm Hg in subjects without mutations (P<0.001). Patients with mutations also had significantly higher IOP throughout follow-up (P<0.002). The number of operations was significantly higher in subjects with mutations (3.3±1.8 vs. 1.8±1.5 procedures, P=0.025). Six patients (60%) with mutations were female as compared with 1 subject (14.3%) in the nonmutation group (P=0.134). There was no significant difference between the study groups in terms of corneal diameter (P=0.475) and vertical cup to disc ratio (P=0.794). CONCLUSIONS: PCG patients with CYP1B1 mutations seem to have earlier onset disease, display more severe manifestations, and require more operations as compared with subjects without such mutations. These findings may have implications in prognosticating the disease and genetic counseling.

Investigation of bacterial and viral agents and immune status in Behcet's disease patients from Iran.

AIM: Behçet's disease (BD) is an autoimmune disorder associated with HLA-B51 positivity. Serologic/genomic findings have suggested microbes as possible causative agents and the geographical distribution suggests environmental influences. METHODS: We performed comparative analyses of 40 patients with BD or related symptoms not fulfilling BD criteria. Patients originating from different regions of Iran were tested by molecular/serological methods for human herpes viruses and parvovirus B19, two Chlamydiae species, as well as Coxiella, Listeria, Yersinia, Leptospira and Mycobacterium paratuberculosis. Human leukocyte antigen-typing was performed: testing of cytokine profiles and immune mediators representative for the cellular immune system, including neopterin/kynurenine production. RESULTS: No apparent differences in interleukin (IL)-4, 6, 8 and 10 were observed, whereas production of soluble IL-2-receptor and tumor necrosis factor (TNF)-alpha were more pronounced in the BD group. Neopterin/kynurenine production was comparable, although both groups showed twice the levels of healthy people. No significant differences of herpes simplex virus (HSV) antibody titres were observed but higher titres against Chlamydophila pneumoniae were found in the controls. In 20 BD patients and controls neither parvovirus B19 DNA was detected nor bacterial DNA. Viral DNA of Epstein-Barr virus (EBV), cytomegalovirus (CMV) and human herpes virus (HHV)8 was detected more frequently in the BD group, whereas HSV DNA was only found in the controls, indicating that stomatitis might be caused by HSV. CONCLUSION: Although no significant association of BD was detected with a single pathogen, our findings suggest that detection of HSV DNA or Chlamydiae would rather argue against classic BD. Whether there is a discriminative potential of the tested immune mediators/receptors has to be elucidated in further studies.