What is Axenfeld-Rieger Syndrome

Axenfeld-Rieger Syndrome is a rare genetic disorder that affects the development of the eyes, teeth, and other parts of the body. It is characterized by various eye abnormalities, including malformation of the iris (the colored part of the eye), which can lead to vision problems such as glaucoma. Additionally, individuals with this syndrome may have dental abnormalities, such as missing or misshapen teeth.

Axenfeld-Rieger Syndrome is typically inherited in an autosomal dominant pattern, meaning that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. However, in some cases, it can also occur sporadically without a family history.

Diagnosis of Axenfeld-Rieger Syndrome involves a thorough examination of the eyes and teeth, as well as genetic testing to confirm the presence of specific gene mutations. While there is no cure for this syndrome, treatment focuses on managing the associated symptoms and preventing complications, such as glaucoma, through regular eye exams and appropriate interventions.

Overall, Axenfeld-Rieger Syndrome is a complex condition that requires ongoing medical care and support to address the various challenges it presents.