Rieger syndrome

Rieger syndrome is a rare genetic disorder that primarily affects the development of the eyes, teeth, and abdominal region. It is also known as Axenfeld-Rieger syndrome and is classified into different types based on the specific genetic mutations involved.

Clinical Features

Rieger syndrome is characterized by a range of clinical features, which can vary widely among affected individuals. The primary features include:

• Ocular abnormalities: These may include Axenfeld anomaly, Rieger anomaly, and glaucoma. Patients often present with malformations of the anterior segment of the eye, which can lead to increased intraocular pressure and potential vision loss.
• Dental anomalies: These can include hypodontia (missing teeth), microdontia (small teeth), and other dental malformations.
• Craniofacial abnormalities: These may include a prominent forehead, hypertelorism (wide-set eyes), and a flattened midface.
• Umbilical abnormalities: These can include a prominent umbilicus or umbilical hernia.

Genetics

Rieger syndrome is typically inherited in an autosomal dominant manner, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder. The condition is associated with mutations in several genes, including:

• PITX2: This gene provides instructions for making a protein that is involved in the development of the eyes, teeth, and abdominal region.
• FOXC1: This gene plays a critical role in the formation of the anterior segment of the eye and other tissues.

Diagnosis

The diagnosis of Rieger syndrome is based on clinical evaluation, family history, and genetic testing. Ophthalmologic examination is crucial for identifying characteristic eye abnormalities. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes.

Management

Management of Rieger syndrome is multidisciplinary and may involve:

• Regular ophthalmologic evaluations to monitor and manage glaucoma and other eye abnormalities.
• Dental care to address missing or malformed teeth.
• Surgical intervention for umbilical abnormalities if necessary.
• Genetic counseling for affected individuals and their families.

Related Pages

• Axenfeld-Rieger syndrome
• Glaucoma
• Autosomal dominant
• PITX2
• FOXC1