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Diseases

Genetic and Rare Diseases Information Center (GARD)

Iridogoniodysgenesis type 2


Other Names for this Disease
  • IRID2
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Overview

Iridogoniodysgenesis type 2 is a rare condition that affects the eyes. People with this condition are born with malformations of the iris (the colored part of the eye) and cornea, which eventually lead to early-onset glaucoma. The irides of affected people are unusually dark. For example, studies of the condition often describe 'brown' irides as a dark, chocolate color and 'blue' irides as a very dark, slate gray. The iris also lacks the usual pattern and has a smooth appearance. Iridogoniodysgenesis type 2 is caused by changes (mutations) in the PITX2 gene and is inherited in an autosomal dominant manner.[1][2] Management is based on the signs and symptoms present in each person and is generally focused on the screening and eventual treatment of glaucoma.[1]
Last updated: 3/22/2016

References

  1. Iridogoniodysgenesis, Type 2. University of Arizona College of Medicine, Department of Ophthalmology and Vision Science. http://disorders.eyes.arizona.edu/disorders/iridogoniodysgenesis-type-2. Accessed 3/22/2016.
  2. IRIDOGONIODYSGENESIS, TYPE 2. OMIM. October 2009; http://www.omim.org/entry/137600.
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In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Iridogoniodysgenesis type 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • IRID2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.