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.
Jules Stein Eye Institute Medical Group
Kevin Miller is an Ophthalmologist in Los Angeles, California. Dr. Miller has been practicing medicine for over 40 years and is rated as an Advanced provider by MediFind in the treatment of Aniridia. His top areas of expertise are Cataract, Aniridia, Astigmatism, Cataract Removal, and Corneal Transplant.
Regents Of The Univ Of Ca
James Brandt is an Ophthalmologist in Sacramento, California. Dr. Brandt and is rated as an Advanced provider by MediFind in the treatment of Aniridia. His top areas of expertise are Ocular Hypertension (OHT), Glaucoma, Pigment-Dispersion Syndrome, Trabeculectomy, and Cataract Removal.
Regents Of The Univ Of Ca
Mark Mannis is an Ophthalmologist in Sacramento, California. Dr. Mannis and is rated as an Advanced provider by MediFind in the treatment of Aniridia. His top areas of expertise are Fuchs Dystrophy, Keratoconus, Interstitial Keratitis, Corneal Transplant, and Vitrectomy.
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...
Summary: Congenital malformations of the eye comprise various developmental defects including microphthalmia, anophthalmia, aniridia, and anterior segment anomalies (such as Peters and Axenfeld-Rieger anomalies). These malformations are frequently associated with extra-ocular features and intellectual disability. However, little is known about visual outcome, frequency and consequences of extra-ocular feat...
Published Date: June 01, 2009
Published By: National Institutes of Health