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 Arendal, Norway. Lagali is rated as an Elite expert by MediFind in the treatment of Aniridia. He is also highly rated in 7 other conditions, according to our data. His top areas of expertise are Aniridia, Interstitial Keratitis, Keratoconus, Dry Eye Syndrome, and Corneal Transplant.
Tor Utheim practices in Oslo, Norway. Utheim is rated as an Elite expert by MediFind in the treatment of Aniridia. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are Aniridia, Dry Eye Syndrome, Dry Mouth, Sjogren Syndrome, and Corneal Transplant.
Lorenz Latta practices in Homburg, Germany. Latta is rated as an Elite expert by MediFind in the treatment of Aniridia. He is also highly rated in 3 other conditions, according to our data. His top areas of expertise are Aniridia, Keratoconus, Hairy Cell Leukemia (HCL), Ocular Hypertension (OHT), and Corneal Transplant.
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 ...
Summary: Keratopathy of patients with aniridia leads to epithelial scarring disorders and a progressive clouding of the cornea linked to this abnormal healing (fibrosis). Treatment with autologous serum is usually undertaken to promote epithelial healing. However, autologous serum does not prevent the formation of fibrosis, whereas growth factor-rich plasma appears to be associated with a reduction in the ...
Published Date: June 01, 2009Published By: National Institutes of Health