CYP1B1 gene

The CYP1B1 gene provides instructions for an enzyme involved in various biochemical reactions, and mutations in this gene are a primary cause of early-onset glaucoma.

Normal Function

The CYP1B1 gene provides instructions for producing an enzyme that is a member of the cytochrome P450 family. These enzymes are involved in many processes, such as assisting with reactions that break down drugs and produce certain fats (lipids). The CYP1B1 enzyme participates in biochemical reactions in which an oxygen atom is added to other molecules.

The CYP1B1 enzyme is active in many tissues, including structures of the eye. While its exact role in eye development is unclear, it may play a part in forming structures at the front of the eye and regulating the secretion of fluid inside the eye.

Health Conditions Related to Genetic Changes

Early-onset glaucoma

More than 140 CYP1B1 gene variants have been identified to cause early-onset glaucoma. People with this condition experience increased pressure within the eye before the age of 40, which causes damage to the optic nerves. Between 20 percent and 40 percent of people with glaucoma before the age of 3 (primary congenital glaucoma) have variants in the CYP1B1 gene.

Recent studies suggest that these defects may interfere with the early development of the trabecular meshwork, a network of mesh-like canals that helps drain excess fluid from the eye. If fluid cannot be drained, pressure inside the eye increases, which is characteristic of glaucoma.

Peters anomaly

A few variants in the CYP1B1 gene have been found to cause Peters anomaly. This condition is characterized by abnormal development of certain structures at the front of the eye and clouding of the clear front surface of the eye (cornea). The variants likely impair the normal function of the CYP1B1 enzyme or disrupt enzyme production, leading to a deficiency that disrupts normal eye development.