CYP1B1, a developmental gene with a potential role in glaucoma therapy.

ABSTRACT

The association of CYP1B1 gene alterations in primary congenital glaucoma individuals has been known for about a decade. Recent evidence has shown the involvement of CYP1B1 mutations in a number of forms of glaucoma and anterior segment disorders. This suggests a wide role for CYP1B1 in ocular physiology. Histochemical studies of eyes from individuals with primary congenital glaucoma revealed abnormalities in the anterior chamber angle, the region between the cornea and the iris, containing the trabecular meshwork. The cells of the trabecular meshwork serve as a filter to allow drainage of the aqueous humour, the fluid formed by the ciliary body that fills the anterior chamber. Mutations in CYP1B1 that affect its activity have frequently been shown to influence development of the trabecular meshwork, and it is thought that CYP1B1, a monooxygenase, acts to form or degrade some endobiotic compound that is necessary for proper development of the filtering structures. The rapidly developing area of stem cell research suggests a potential therapeutic approach for glaucomas resulting from deleterious mutations in CYP1B1, that is, the transfer of stem cells, differentiated to a specific lineage, containing wild-type CYP1B1 to specific regions of the eye, where they will develop into normal cells of that region and rectify the defect.