What is axenfeld anomaly?

Axenfeld anomaly is used to describe patients who present mostly with disorders associated with an anteriorly displaced and prominent Schwalbe line, a condition also known as “posterior embryotoxon.” Rieger anomaly characteristically presents with central iris defects, such as irregular pupils with stromal hypoplasia.

What causes Rieger syndrome?

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.

What is low syndrome?

Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males. Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts ), often with other eye abnormalities that can impair vision.

What causes axenfeld Rieger?

What causes axenfeld-Rieger?

Is Axenfeld-Rieger syndrome dominant or recessive?

Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance. Treatment depend on the symptoms.

What are the symptoms of Rieger syndrome type II?

Patients with Rieger syndrome type II present with, in addition to the usual signs and symptoms, an enlarged head (hydrocephalus), cardiac defects, more hearing defects and kidney abnormalities. Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual.

How many people are affected by Axenfeld-Rieger syndrome?

Axenfeld-Rieger syndrome has an estimated prevalence of 1 in 200,000 people. 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.

What is the function of the PITX2 gene?

On the basis of this action, the PITX2 protein is called a transcription factor. The PITX2 gene is part of a family of homeobox genes, which act during early embryonic development to control the formation of many parts of the body.

Which is the autosomal dominant trait of Rieger syndrome?

There are two forms of Rieger syndrome each of which is inherited as an autosomal dominant trait. The form known as Rieger syndrome type I is associated with a change (mutation) in a gene known as RIEG1 on chromosome 4 (4q25-q26).

What is axenfeld anomaly? Axenfeld anomaly is used to describe patients who present mostly with disorders associated with an anteriorly displaced and prominent Schwalbe line, a condition also known as “posterior embryotoxon.” Rieger anomaly characteristically presents with central iris defects, such as irregular pupils with stromal hypoplasia. What causes Rieger syndrome? Axenfeld-Rieger syndrome results from…