Rare Endocrinology News

Disease Profile

Oculocutaneous albinism

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

Neonatal

ICD-10

E70.3

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)

OCA; Albinism, Oculocutaneous

Summary

Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes. Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabismus), or increased sensitivity to light (photophobia). All types of oculocutaneous albinism are caused by gene mutations that are inherited in an autosomal recessive manner. Treatment includes covering the skin from sun exposure by using sunscreen and protective clothing and attending to vision problems by wearing glasses.[1]

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
Cutaneous photosensitivity
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity

[ more ]

0000992
Generalized hypopigmentation
Fair skin
Pale pigmentation

[ more ]

0007513
Iris hypopigmentation
Light eye color
0007730
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
White hair
0011364
30%-79% of people have these symptoms
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
High hypermetropia
Severe farsightedness
Severe long-sightedness

[ more ]

0008499
Hypoplasia of the fovea
0007750
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Photophobia
Extreme sensitivity of the eyes to light
Light hypersensitivity

[ more ]

0000613
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505
White eyelashes
Blonde eyelashes
Pale eyelashes

[ more ]

0002227
5%-29% of people have these symptoms
Basal cell carcinoma
0002671
Melanoma
0002861
Squamous cell carcinoma of the skin
0006739

Treatment

Individuals with oculocutaneous albinism should have annual skin examinations to check for skin damage or skin cancer and annual eye examination to check vision. Affected individuals should cover their skin from sun exposure by using sunscreen and wearing protective clothing such as long-sleeve shirts, long pants, and hats with wide brims. Glasses may be worn to reduce sensitivity to bright light or to improve vision. Additional therapies or surgery may be used to treat crossed eyes (strabismus) or rapid eye movements (nystagmus).[2][3][4]

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

      • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
      • Genetics Home Reference (GHR) contains information on Oculocutaneous albinism. This website is maintained by the National Library of Medicine.

        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.
        • 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 Oculocutaneous albinism. Click on the link to view a sample search on this topic.

          References

          1. Oculocutaneous albinism. Genetics Home Reference. March 2007; https://ghr.nlm.nih.gov/condition/oculocutaneous-albinism. Accessed 10/15/2012.
          2. Albinism. MedlinePlus. November 2011; https://www.nlm.nih.gov/medlineplus/ency/article/001479.htm. Accessed 10/15/2012.
          3. Lewis RA. Oculocutaneous Albinism Type 2. GeneReviews. August 2012; https://www.ncbi.nlm.nih.gov/books/NBK1232/. Accessed 10/15/2012.
          4. King RA. Oculocutaneous Albinism Type 1. GeneReviews. October 2004; https://www.ncbi.nlm.nih.gov/books/NBK1166/. Accessed 10/15/2012.

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