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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Congenital primary aphakia


Other Names for this Disease

  • Aphakia, congenital primary
  • CPA
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. In some cases, CPA can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). This condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. Mutations in the FOXE3 gene have been associated with this condition. CPA is thought to be inherited in an autosomal recessive fashion.[1][2] Click here to view a diagram of the eye.
Last updated: 9/7/2011

References

  1. Congenital primary aphakia. Orphanet. December 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=83461. Accessed 9/7/2011.
  2. Aphakia, primary congenital. Online Mendelian Inheritance of Man (OMIM). http://omim.org/entry/610256. Accessed 9/7/2011.
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In Depth Information

  • The 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital primary aphakia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Aphakia, congenital primary
  • CPA
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.