Molecular and Clinical Evaluation of Primary Congenital Glaucoma in Kuwait Original Reearch Article

Purpoe To report the pectrum of the CYP1B1 mutation in Kuwaiti patient with primary congenital glaucoma (PCG). Deign Clinical diagnoi of PCG and laboratory baed experimental tudy. Method Polymerae chain reaction-retriction polymorphim length fragment (PCR-RPLF) and direct equencing of exon 2 and the coding region of exon 3 of CYP1B1 gene were the method ued for creening 17 PCG patient, their familie, and 105 health individual from the ame ethnicity. Reult Four different mutation were detected in CYP1B1 in 70.6% of the creened patient. The mot common one (47%) wa homozygote Gly61Glu mutation, previouly decribed in audi Arabia, Turkey, and Morocco; all patient were product of conanguineou marriage. The econd common mutation wa a novel miene (Ala388Thr) mutation found in three patient (17.6%) a compound heterozygote with Arg368Hi in one patient, and with Gly61Glu in another one while the econd mutation in third patient wa not detected in the CYP1B1 gene. One patient (5.8%) wa homozygote for Cyt280X mutation previouly reported in only one Japanee family. In addition to thee mutation, a novel Val422Gly polymorphic ite wa found in three of the PCG patient and in 18 of the 210 teted chromoome of healthy volunteer. Concluion The CYP1B1 mutation pectrum of Kuwaiti PCG patient i imilar to that detected in the neighboring countrie. No clear genotype-phenotype correlation detected in patient howed different type of CYP1B1 mutation.