National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Cerulean cataract


Other Names:
Cataract, congenital, cerulean type 1; CCA1; Cataract, congenital, blue dot type 1
Categories:
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Cerulean cataract 0007976
5%-29% of people have these symptoms
Macular hypoplasia 0001104
Retinal detachment
Detached retina
0000541
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Cortical pulverulent cataract 0007780
Developmental cataract
Clouding of the lens of the eye at birth
0000519
Iris coloboma
Cat eye
0000612
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Mildly reduced visual acuity 0032037
Nuclear pulverulent cataract 0010698
Sutural cataract 0010695
Visual loss
Loss of vision
Vision loss
[ more ] 		0000572
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Last updated: 7/1/2020
No treatment is known to prevent cerulean cataracts, and there is currently no cure for the condition. Frequent eye evaluations and eventual cataract surgery are typically required to prevent amblyopia (vision loss) as the opacities progress.[2] The symptoms of early cataracts may be improved with new eyeglasses, brighter lighting, anti-glare sunglasses, or magnifying lenses. However, if these measures do not help, surgery is often the only effective treatment. Surgery involves removing the cloudy lens and replacing it with an artificial lens. Surgery is often considered when vision loss regularly interferes with everyday activities, such as driving, reading, or watching TV.[3]
Last updated: 4/6/2011

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I recently had my eyes checked because I developed headaches, and I was diagnosed with blue dot cataracts. Is this a harmful condition? Is there a cure? See answer


  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.
  3. Facts About Cataract. National Eye Institute. April 2011; http://www.nei.nih.gov/health/cataract/cataract_facts.asp. Accessed 4/6/2011.