Axenfeld syndrome

Axenfeld syndrome is a rare genetic disorder that primarily affects the eye. It is characterized by abnormalities in the front part of the eye, specifically the anterior chamber, and can lead to increased pressure within the eye (glaucoma) and vision loss.

Etiology

Axenfeld syndrome is caused by mutations in the PITX2 gene. This gene provides instructions for making a protein that is involved in the development of the eyes, teeth, and abdominal organs. Mutations in the PITX2 gene disrupt the normal development of these structures, leading to the features of Axenfeld syndrome.

Symptoms

The most common symptoms of Axenfeld syndrome include:

• Iris abnormalities: The iris, the colored part of the eye, may be thin or poorly developed. This can cause the pupil to be off-center (corectopia) or irregular in shape.
• Cornea abnormalities: The cornea, the clear front surface of the eye, may be cloudy or have a ring of extra tissue (posterior embryotoxon).
• Glaucoma: Increased pressure within the eye can damage the optic nerve and lead to vision loss.

Diagnosis

Diagnosis of Axenfeld syndrome is based on a thorough clinical evaluation, detailed patient history, and specialized tests such as genetic testing and eye examination.

Treatment

Treatment for Axenfeld syndrome is focused on managing the symptoms and preventing complications. This may include medications to control glaucoma, surgery to correct eye abnormalities, and regular monitoring of vision.

Prognosis

The prognosis for individuals with Axenfeld syndrome varies. Some people may have mild symptoms and normal vision, while others may experience severe vision loss. Early detection and treatment can help to preserve vision and improve quality of life.

See also

• Genetic disorder
• Glaucoma
• PITX2