<i>CYP1B1</i> gene analysis in primary congenital glaucoma in Indonesian and European patients

Abstract

rimary congenital glaucoma (PCG) is an autosomal recessive disease, caused by unknown developmental defect(s) of the trabecular meshwork and anterior chamber angle. It manifests itself clinically during the neonatal or infantile period. The disease is characterised by high intraocular pressure (IOP), buphthalmos with corneal enlargement, and breaks in Descemet's membrane. wo chromosomal locations for PCG on 2p21 (GLC3A, MIM 231300) and 1p36 (GLC3B) have been reported previously. CYP1B1 encodes a dioxin inducible member of subfamily I of the cytochrome p450 protein superfamily. The human CYP1B1 gene consists of three exons of which the first is non-coding. ] Descriptions of causative mutations of PCG in the Indonesian population have not been published so far. We therefore investigated the coding region of the CYP1B1 gene in patients from Europe and Indonesia, in order to find molecular information on PCG, and compared the findings between these two different populations.