Axenfeld-Rieger syndrome

Axenfeld-Rieger syndrome is a rare genetic disorder affecting the development of the eyes and other parts of the body. The syndrome is named after the two ophthalmologists, Theodor Axenfeld and Herbert Rieger, who first described the condition.

Pronunciation

Axenfeld-Rieger syndrome: /ˈæksənfɛld ˈriːɡər sɪnˈdroʊm/

Etymology

The syndrome is named after Theodor Axenfeld and Herbert Rieger, two ophthalmologists who first described the condition in the early 20th century.

Definition

Axenfeld-Rieger syndrome is a genetic disorder that primarily affects the development of the eye, leading to abnormalities such as glaucoma, iris hypoplasia, and corneal opacity. It can also affect other parts of the body, including the heart, teeth, and facial bones.

Symptoms

The most common symptoms of Axenfeld-Rieger syndrome include:

• Glaucoma: This is a condition that damages the eye's optic nerve and can result in vision loss and blindness.
• Iris hypoplasia: This is a condition where the colored part of the eye (the iris) is underdeveloped.
• Corneal opacity: This is a condition where the front part of the eye (the cornea) becomes cloudy or opaque.

Other symptoms can include dental abnormalities, heart defects, and distinctive facial features such as a prominent forehead and widely spaced eyes.

Related Terms

• Genetic disorder
• Glaucoma
• Iris hypoplasia
• Corneal opacity

See Also

• List of genetic disorders
• List of eye diseases and disorders

External links

• Medical encyclopedia article on Axenfeld-Rieger syndrome
• Wikipedia's article - Axenfeld-Rieger syndrome

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