Learn About Aniridia

What is the definition of Aniridia?

Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).

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What are the causes of Aniridia?

Aniridia is caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in the early development of the eyes, brain and spinal cord (central nervous system), and the pancreas. Within the brain, the PAX6 protein is involved in the development of a specialized group of brain cells that process smell (the olfactory bulb). The PAX6 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the PAX6 protein is called a transcription factor. Following birth, the PAX6 protein regulates several genes that likely contribute to the maintenance of different eye structures.

How prevalent is Aniridia?

Aniridia occurs in 1 in 50,000 to 100,000 newborns worldwide.

Is Aniridia an inherited disorder?

Aniridia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Who are the top Aniridia Local Doctors?
Elite
Highly rated in
2
conditions

University Of Saarland

Dr. Rolf. M. Schwiete Center For Limbal Stem Cell And Aniridia Research, Saarland University 
Homburg, SL, DE 

Lorenz Latta is in Homburg, Germany. Latta is rated as an Elite expert by MediFind in the treatment of Aniridia. He is also highly rated in 2 other conditions, according to our data. His top areas of expertise are Aniridia, Keratoconus, Hairy Cell Leukemia, and Peters Anomaly.

Elite
Highly rated in
11
conditions

University Of Saarland

Homburg, SL, DE 

Barbara Kellner-Kasmann is in Homburg, Germany. Kellner-Kasmann is rated as an Elite expert by MediFind in the treatment of Aniridia. She is also highly rated in 11 other conditions, according to our data. Her top areas of expertise are Aniridia, Ocular Albinism, Albinism, and Oculocutaneous Albinism Type 1.

 
 
 
 
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Elite
Highly rated in
4
conditions

University Of Saarland

Homburg, SL, DE 66421

Fabian Fries is in Homburg, Germany. Fries is rated as an Elite expert by MediFind in the treatment of Aniridia. He is also highly rated in 4 other conditions, according to our data. His top areas of expertise are Aniridia, Amebiasis, Corneal Transplant, and Interstitial Keratitis.

What are the latest Aniridia Clinical Trials?
RAFT - First in Human Phase I/II Clinical Trial of RAFT for Aniridia Related Keratopathy
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Coordination of Rare Diseases at Sanford
Who are the sources who wrote this article ?

Published Date:updated Last, June

Published By: National Institutes of Health

What are the Latest Advances for Aniridia?
KeraKlear Artificial Cornea Implantation Assisted by Femtosecond Laser in Eyes With Aniridia.
Detection of a novel PAX6 variant in a Chinese family with multiple ocular abnormalities.
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Mechanical modifications of soft actuators for the use as a dynamic iris implant.