title: Phenotype and Genotype Correlation in Iranian Primary Congenital Glaucoma Patients.
abstract: OBJECTIVE
  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.
authors.affiliation: *Ophthalmic Research Center, Labbafinejad Medical Center, Shahid Beheshti University of Medical Sciences †Eye Research Center, Iran University of Medical Sciences ‡School of Biology, University College of Science ∥Department of Biotechnology ¶Center of Excellence in Biomathematics, School of Mathematics, Statistics and Computer Science §Department of Biostatistics and Epidemiology, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Shahin
authors.initials: S
authors.lastname: Yazdani
authors.forename: Arezoo
authors.initials: A
authors.lastname: Miraftabi
authors.forename: Mohammad
authors.initials: M
authors.lastname: Pakravan
authors.forename: Elham
authors.initials: E
authors.lastname: Ghahari
authors.forename: Betsabeh K
authors.initials: BK
authors.lastname: Tousi
authors.forename: Massih
authors.initials: M
authors.lastname: Sedigh
authors.forename: Mehdi
authors.initials: M
authors.lastname: Yaseri
authors.forename: Elahe
authors.initials: E
authors.lastname: Elahi
mesh_terms: D065633:Cytochrome P-450 CYP1B1 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D056726:Genetic Association Studies; D006801:Humans; D006871:Hydrophthalmos / Q000175:diagnosis / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D007429:Intraocular Pressure; D007492:Iran; D008297:Male; D009154:Mutation; D009901:Optic Nerve Diseases / Q000175:diagnosis / Q000235:genetics*; D014065:Tonometry, Ocular
chemical_list: D065633:Cytochrome P-450 CYP1B1