Disease Profile

Cerulean cataract

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of Onset

Childhood

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ICD-10

Q12.0

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

Cataract, congenital, cerulean type 1; CCA1; Cataract, congenital, blue dot type 1

Categories

Congenital and Genetic Diseases; Eye diseases

Summary

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]

Symptoms

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.

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

Treatment

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]

Organizations

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 Providing General Support

    Learn More

    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.

        References

        1. Marla J. F. O'Neill et al. CATARACT, CONGENITAL, CERULEAN TYPE, 1; CCA1. OMIM. June 21, 2006; https://www.ncbi.nlm.nih.gov/omim/115660. Accessed 4/6/2011.
        2. Cataracts, Congenital Cerulean. University of Arizone. 2010; https://disorders.eyes.arizona.edu/disorders/cataracts-congenital-cerulean. Accessed 4/6/2011.
        3. Facts About Cataract. National Eye Institute. April 2011; https://www.nei.nih.gov/health/cataract/cataract_facts.asp. Accessed 4/6/2011.