Myocilin Mutations Are Not a Major Cause of Primary Congenital Glaucoma in Iranian Patients

Purpose: to assess the frequency of mutations in the myocilin (myoc) gene in iranianpatients affected with primary congenital glaucoma (pcg).methods: the individuals evaluated herein are among a larger cohort of 100 patientswho had previously been screened for cyp1b1 mutations. eighty subjects carriedmutations in cyp1b1, but the remaining 20 patients who did not, underwent screeningfor myoc mutations for the purpose of the study. myoc exons in the dna werepolymerase chain reaction (pcr) amplified and sequenced. sequencing was performedusing pcr primers, the abi big dye chemistry and an abi3730xl instrument.sequences were analyzed by comparing them to reference myoc sequences usingthe sequencher software.results: four myoc sequence variations were observed among the patients, butnone of them were considered to be associated with disease status. three of thesevariations were single nucleotide polymorphisms already reported not to be diseasecausing, the fourth variation created a synonymous codon and did not affect anyamino acid change.conclusion: in this cohort, myoc mutations were not observed in any iranian subjectwith pcg. it is possible that in a larger sample, a few subjects carrying diseasecausing myoc mutations could have been observed. but our results show that the contribution of myoc to pcg status in iran is small if any.