What is Rieger anomaly syndrome?

Rieger’s syndrome (also known as iris–dental dysplasia) is an autosomal-dominant disorder associated with malformation of the iris, pupillary anomalies, and hypoplasia of the teeth, with or without maxillary hypoplasia.

What causes axenfeld-Rieger?

Causes. Axenfeld-Rieger syndrome results from mutations in at least two known genes, PITX2 and FOXC1. PITX2 gene mutations cause type 1, and FOXC1 gene mutations cause type 3. The gene associated with type 2 is likely located on chromosome 13, but it has not been identified.

Can people with Axenfeld-Rieger syndrome see?

About 50% of people with this syndrome develop glaucoma, a condition that increases pressure inside of the eye, and may cause vision loss or blindness. Even though Axenfeld-Rieger syndrome is primarily an eye disorder, this syndrome can affect other parts of the body.

What does it mean if your pupil is off center?

Corectopia is the displacement of the eye’s pupil from its normal, central position. It may be associated with high myopia or ectopia lentis, among other conditions. Medical or surgical intervention may be indicated for the treatment of corectopia in some cases.

What is axenfeld-Rieger anomaly syndrome and glaucoma?

Axenfeld-Rieger syndrome(ARS) refers to an autosomal dominant genetic condition characterized by anterior segment dysgenesis and systemic abnormalities.

What is Pallister Killian syndrome?

A child with Pallister-Killian syndrome has 47 chromosomes. This extra chromosome is made up of two copies of the short arm (p arm) of chromosome 12 in some cells of the body. In these cells, there are four copies of this 12p arm of chromosome 12, instead of the usual two copies. This is called tetrasomy 12p.

What is axenfeld Rieger anomaly syndrome & glaucoma?

Axenfeld-Rieger syndrome is a group of disorders that mainly affects the development of the eye. Common eye symptoms include cornea defects and iris defects. People with this syndrome may have an off-center pupil (corectopia) or extra holes in the eyes that can look like multiple pupils (polycoria).