Aniridia Overview
Learn About 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).
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.
Aniridia occurs in 1 in 50,000 to 100,000 newborns worldwide.
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.
Neil Lagali practices in Linkoeping, Sweden. Mr. Lagali is rated as an Elite expert by MediFind in the treatment of Aniridia. His top areas of expertise are Aniridia, Interstitial Keratitis, Spinocerebellar Degeneration and Corneal Dystrophy, Corneal Transplant, and Cataract Removal.
Fabian Fries practices in Homburg, Germany. Mr. Fries is rated as an Elite expert by MediFind in the treatment of Aniridia. His top areas of expertise are Aniridia, Amebiasis, Interstitial Keratitis, Corneal Transplant, and Trabeculectomy.
Nora Szentmary practices in Budapest, Hungary. Ms. Szentmary is rated as an Elite expert by MediFind in the treatment of Aniridia. Her top areas of expertise are Aniridia, Amebiasis, Keratoconus, Corneal Transplant, and Cataract Removal.
Summary: Congenital aniridia is a pan-ocular genetic disease characterized by a partial or complete absence of the iris, hence its name. The prevalence ranges from 1 / 40,000 to 1 / 96,000 births, but it may be underestimated. This condition combines several types of eye damage and could associate systemic manifestations, with a variable phenotype and genotype. This study aims to identify eye and systemic ...
Background: The eyeGENE (Registered Trademark) program is a research resource for inherited eye conditions which includes genotypic and phenotypic data, imaging, and a corresponding biobank of DNA samples from people with a variety of eye diseases. Since 2007 this registry has been helping researchers learn more about the genetic sources for many inherited eye diseases. These findings helped them create bette...
Published Date: June 01, 2009
Published By: National Institutes of Health