Glaucoma is a group of heterogeneous optic neuropathies with complex genetic basis.
Among the three principle subtypes of glaucoma, primary open angle glaucoma (POAG) …

The objective of this study was to investigate the distribution of mutations in the Cytochrome
P450 1B1 gene (CYP1B1) in patients with primary congenital glaucoma (PCG) among …

Objectives To analyze the frequency of mitochondrial DNA (mtDNA) damage in patients with
primary open-angle glaucoma. Oxidative damage plays a major role in glaucoma …

We report that polycyclic aromatic hydrocarbon (PAH)-inducible CYP1B1 is targeted to
mitochondria by sequence-specific cleavage at the N terminus by a cytosolic Ser protease …

Purpose Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents
early in life. PCG is a clinical and genetic entity that is distinct from juvenile forms of …

Purpose To analyze the contributions of cytochrome P4501B1 (CYP1B1) mutations to
primary congenital glaucoma (PCG) in Spanish patients. Methods We analyzed, by …

Primary congenital glaucoma (PCG) is a genetically heterogeneous autosomal recessive
disorder, which is an important cause of blindness in childhood. The first known gene …

Primary congenital glaucoma (PCG) is an autosomal recessive disorder in children due to
the abnormal development of the trabecular meshwork and the anterior chamber angle. With …

PURPOSE: To assess the mutation spectrum, enzymatic activity, and phenotypic features
associated with CYP1B1 genotypes in primary congenital glaucoma (PCG) and …

Mutations in the CYP1B1 gene are currently the main known genetic cause of primary
congenital glaucoma (PCG), a leading cause of blindness in children. Here, we analyze for …