CYP1B1-related glaucoma with or without anterior segment dysgenesis

CYP1B1-related glaucoma with or without anterior segment dysgenesis is a form of primary congenital glaucoma that is present at birth. It occurs when there is a mutation in the CYP1B1 gene, which plays a role in eye development and function. This condition can affect the drainage system of the eye, leading to increased eye pressure and potential vision problems. In some cases, there may also be abnormal development in the front part of the eye, known as the anterior segment. The severity and presence of additional eye anomalies can vary among individuals.

Information about symptoms is currently limited for this condition.

This condition is caused by mutations in the CYP1B1 gene. The mutation disrupts normal eye development, leading to issues with eye pressure regulation and, in some cases, additional anomalies in the front of the eye.

Information about treatment options and management approaches is currently limited for this condition.

Information about prognosis and quality of life considerations is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.