PURPOSE Axenfeld-Rieger (AR) is an autosomal dominant disorder with phenotypic heterogeneity characterized by anterior segment dysgenesis, facial bone defects, and redundant periumbilical skin. The PITX2 gene, on chromosome 4q25, and the FOXC1 gene, on chromosome 6p25, have been implicated in the different phenotypes of the syndrome through mutational events. Recently, the CYP1B1 gene was found...

P rimary congenital glaucoma is an important cause of childhood blindness worldwide. In congenital glaucoma, the anterior segment of the eye fails to develop completely; this results, in particular, in malformation of the trabecular meshwork and aqueous outflow pathways. 2 Although sporadic cases arise frequently, many cases of congenital glaucoma are inherited as an autosomal recessive trait, ...

results we identified no mutations in these patients in the three screened positions. conclusions to ensure that these genes play no role in the disease, evaluation of the non-coding regions of both the cyp1b1 and myoc genes is strongly recommended, since other genes are involved in the pathogenesis of glaucoma. patients and methods forty patients with poag were recruited from the ophthalmic di...

P rimary congenital glaucoma is an important cause of childhood blindness worldwide. In congenital glaucoma, the anterior segment of the eye fails to develop completely; this results, in particular, in malformation of the trabecular meshwork and aqueous outflow pathways. 2 Although sporadic cases arise frequently, many cases of congenital glaucoma are inherited as an autosomal recessive trait, ...

PURPOSE CYP1B1 mutations cause autosomal recessive congenital glaucoma. Disease risk assessment for families with CYP1B1 mutations requires knowledge of the population mutation carrier frequency. The purpose of this study is to determine the CYP1B1 mutation carrier frequency in clinically normal individuals residing in the United States. Because CYP1B1 mutations can exhibit variable expressivit...

PURPOSE To elucidate the incidence of cytochrome P450 1B1 (CYP1B1) and myocillin (MYOC) mutations in Korean patients with primary congenital glaucoma (PCG). METHODS Genomic DNA was collected from peripheral blood of 85 unrelated Korean patients who were diagnosed as having PCG by standard ophthalmological examinations and screened for mutations in the CYP1B1 and MYOC genes by using bi-directi...

PURPOSE To determine the distribution of CYP1B1 gene mutations in Brazilian patients with primary congenital glaucoma (PCG). METHODS PCG diagnosis was established by presence of buphthalmos in at least one affected eye and associated high intraocular pressures before the age of 3 years. CYP1B1 mutation screening of 52 patients with PCG was performed by SSCP and direct sequencing of PCR fragme...

PURPOSE The human Cytochrome P450 gene CYP1B1 has been implicated in primary congenital glaucoma worldwide. The aim of this study was to understand the role of CYP1B1 mutations in causing primary congenital glaucoma in Indian populations. METHODS The study included 64 new and unrelated cases of primary congenital glaucoma from different ethnic groups of India. Direct sequencing screened the c...

To investigate the cytochrome P4501B1 (CYP1B1) mutations in a three-generation Chinese Han family with PCG, the 2 and 3 coding exons of CYP1B1 gene were amplified by PCR, and were directly sequenced using Sanger bidirectional sequencing reactions. The mutation c.517 G>A p.E173K was detected in all the affected individuals (which showed homozygous AA genotype) and not in all the unaffected ones ...

PURPOSE To investigate the contribution of cytochrome P4501B1 (CYP1B1) and myocillin (MYOC) mutations to primary congenital glaucoma (PCG) in Moroccan families. METHODS This study included 90 unrelated families with PCG and 100 normal control individuals. Two previously reported CYP1B1 mutations (g.4339delG and p.G61E) were first screened by polymerase chain reaction-restriction fragment leng...