Rare Pulmonology News

Disease Profile

Blue cone monochromatism

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.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Infancy

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ICD-10

H53.5

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.

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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)

CBBM; BCM; Color blindness blue mono cone monochromatic type;

Categories

Congenital and Genetic Diseases; Eye diseases

Summary

Blue cone monochromatism is an inherited vision disorder. In this condition, the light sensitive cells in the eye used for color vision (cones) are affected. There are three types of cones that respond to one of three colors: red, green, and blue. When people have blue cone monochromatism, both the red and green cones do not function properly, while the blue cones work normally.[1] Signs and symptoms may include impaired color vision, low visual acuity (clarity or sharpness), photophobia (light sensitivity), myopia (nearsightedness), and nystagmus (fast, uncontrollable movements of the eye).[2][1] Blue cone monochromatism is caused by mutations in either the OPN1LW or the OPN1MW gene(s) and is inherited in an X-linked manner.[2][3] There is no cure for this condition; however, there may be ways to manage the symptoms, such as using special glasses or contact lenses and low vision aids.[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
80%-99% of people have these symptoms
Blue cone monochromacy
0007939
30%-79% of people have these symptoms
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
5%-29% of people have these symptoms
Abnormal electroretinogram
0000512
Abnormality of macular pigmentation
0008002
Abnormality of retinal pigmentation
0007703
Corneal dystrophy
0001131
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity

[ more ]

0000613
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505
Percent of people who have these symptoms is not available through HPO
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Pendular nystagmus
0012043
Reduced visual acuity
Decreased clarity of vision
0007663
X-linked recessive inheritance
0001419

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 Supporting this Disease

    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

        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. 
        • 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 Blue cone monochromatism. Click on the link to view a sample search on this topic.

          Diagrams/Images

          • A diagram of the eye can be found by visiting MedlinePlus, the National Library of Medicine Web site designed to help you research your health questions. Click on MedlinePlus to view the diagram.

            References

            1. Blue Cone Monochromacy. The University of Arizona Health Sciences Hereditary Ocular Disease Database. https://disorders.eyes.arizona.edu/disorders/blue-cone-monochromacy. Accessed 12/30/2016.
            2. Kohl, S.. Blue cone monochromatism. Orphanet. August 2013; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=16.
            3. McKusick, VA. BLUE CONE MONOCHROMACY; BCM. In: O'Neill, MJF.. OMIM. 10/17/2016; https://www.omim.org/entry/303700.