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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cerulean cataract


Other Names for this Disease
  • Cataract, congenital, cerulean type 1
  • CCA1
  • Cataract, congenital, blue dot type 1
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

Cerulean cataracts are opaque areas that develop in the lens of the eye that often have a bluish or whitish color. They may be present at birth or develop in very early childhood, but may not be diagnosed until adulthood.[1] They are usually bilateral and progressive.[2] Infants can be asymptomatic, but may also be visually impaired from birth and develop nystagmus and amblyopia.[2] In adulthood, the cataracts may progress, making lens removal necessary.[1] Cerulean cataracts may be caused by mutations in several genes, including the CRYBB2, CRYGD, and MAF genes, and are inherited in an autosomal dominant manner. No treatment is known to prevent cerulean cataracts, but frequent evaluations and cataract surgery are typically required to prevent amblyopia as the opacities progress.[2]
Last updated: 4/6/2011

References

  1. Marla J. F. O'Neill et al. CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1. OMIM. June 21, 2006; http://www.ncbi.nlm.nih.gov/omim/115660. Accessed 4/6/2011.
  2. Cataracts, Congenital Cerulean. University of Arizone. 2010; http://disorders.eyes.arizona.edu/disorders/cataracts-congenital-cerulean. Accessed 4/6/2011.
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Basic Information

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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. 
    CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1
    CATARACT, CONGENITAL, CERULEAN TYPE, 2; CCA2
    CATARACT, CONGENITAL, CERULEAN TYPE, 3; CCA3
    CATARACT, PULVERULENT, JUVENILE-ONSET
  • 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 Cerulean cataract. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Cataract, congenital, cerulean type 1
  • CCA1
  • Cataract, congenital, blue dot type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.