Gene abnormalities in primary congenital glaucoma in Saudi Arabia: a study of known genes and search for novel genes

摘要

Primary congenital glaucoma (PCG) refers to patients withisolated anomaly of the trabecular meshwork and glaucomaonset within the first 3 years of life [1]. It is relativelycommon in Saudi Arabia, with estimated incidence of 1:2500 live birth, due to high prevalence of consanguinitywithin Saudi’s families [2]. CYP1B1 is the most commonlymutated gene in PCG. This study was undertaken to identifymutations in CYP1B1 and looking for novel genes, byscreening blood of patients who had typical findings ofPCG, with high-resolution SNP microarray, homozygousmapping and direct sequencing of CYP1B1.