Axenfeld-Rieger syndrome type 1

Axenfeld-Rieger syndrome type 1 is a rare condition that primarily affects the eyes and teeth. It is known for causing abnormalities in the anterior chamber of the eye, which is the front part of the eye, and it can lead to underdevelopment of the teeth. This condition is part of a group of disorders that show variability in how they affect people, with some having more pronounced eye issues and dental problems than others. The syndrome is generally recognized as a genetic disorder. It follows an autosomal dominant inheritance pattern, meaning that a mutation in just one copy of the related gene can lead to the condition. As a result, family history may sometimes reveal similar signs or symptoms in relatives.

People with Axenfeld-Rieger syndrome type 1 often experience abnormalities in the front part of the eye, which may affect vision. They may also have underdeveloped teeth. Details on other symptoms or the range of severity remain limited in the current information.

This condition is caused by mutations in the PITX2 gene. It follows an autosomal dominant pattern of inheritance, meaning that having one copy of the mutated gene can cause the syndrome. The mutation affects normal development, particularly of the eyes and teeth.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.