Axenfeld-Rieger syndrome is a genetic disease that damages the organ of vision, specifically the front part of the eye. Along with its development, glaucoma usually appears, which may contribute to loss of vision at a young age, even in 50% of patients. sick. What are the causes and other symptoms of Axenfeld-Rieger syndrome? How is the treatment going?

Axenfeld-Rieger syndrome(Axenfeld-Rieger syndrome, ARS) is a congenital syndrome characterized by eye abnormalities. These anomalies are accompanied by defects in other systems and systems. The prevalence of Axenfeld-Rieger syndrome is estimated at 1 in 20,000 live births.

Axenfeld-Rieger syndrome - causes and inheritance

The cause of Axenfeld-Rieger syndrome is a mutation in the PITX2 or FOXC1 gene. They seem to play an important role in the development of the embryo, especially in the formation of the structures of the anterior segment of the eye, therefore their mutations lead to defects in the eye and other parts of the body.

In some people with this syndrome, mutations in the PITX2 and FOXC1 genes have not been identified. The causes of the disease in these people are unknown. Perhaps it is responsible for mutations in other genes that have not yet been discovered.

Axenfeld-Rieger syndrome is inherited atosomally dominant, ie a person inherits one normal copy of the gene and one altered copy of the gene. However, the altered copy of the gene dominates or becomes more important than the working copy. This causes the symptoms of a genetic disease to appear. The disease may also result from a new mutation, i.e. develop in a person whose family has no history of the disease.

Axenfeld-Rieger syndrome - symptoms

The hallmark of Axenfeld-Rieger syndrome are visual defects such as: iris hypoplasia (poor development of the iris), iris-corneal adhesions, anterior corneal attachment, incorrect position of the pupil or multiple holes in the iris.

Glaucoma causes vision loss of 50%. sick

In the course of the disease, some patients develop glaucoma. It can appear in childhood, but is usually diagnosed in adolescence or young adults.

This is usually accompanied by irregularities on the part of othersorgans and systems:

  • incorrect number and / or size of teeth;
  • disturbances in the appearance of the face - an increase in the distance between the eyes above the norm, underdevelopment of the jaw, flattening of the middle part of the face, prominent forehead, wide, flat base of the nose;
  • excess skin around the navel;
  • hypocrisy;
  • hearing damage;
  • congenital heart defects;
  • narrowing of the anus;
  • a disturbance in the functioning of the pituitary gland that leads to a disturbance in growth;

Axenfeld-Rieger syndrome - diagnosis

If Axenfeld-Rieger syndrome is suspected, ophthalmological examinations are performed, such as: visual acuity test, intraocular pressure measurement, corneal diameter measurement, examination of the angle of filtration (gonioscopy), and fundus examination.

Other tests are also performed, depending on the type of associated defects, e.g. in the case of heart defects, e.g. Chest X-ray and echocardiogram.

In addition, genetic testing is necessary.

Axenfeld-Rieger syndrome - treatment

Axenfeld-Rieger syndrome is a genetic disease, therefore causal treatment is not possible. Therapy primarily includes preventing the development of glaucoma. In the event of the development of this disease, surgery is required.

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In addition, accompanying defects are treated appropriately.

Category:

Genetic diseases