Oculocutaneous albinism

Title

Other Names:

OCA; Albinism, Oculocutaneous

Summary 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]

Last updated: 10/17/2012

Symptoms 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.

Showing of 16 |

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		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

Showing of 16 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2018

Do you have updated information on this disease? We want to hear from you.

Treatment 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]

Last updated: 10/15/2012

Research Research

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

ClinicalTrials.gov lists trials that are related to Oculocutaneous albinism. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations 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

National Alliance for Eye and Vision Research (NAEVR)
1801 Rockville Pike, Suite 400
Rockville, MD 20852
Telephone: 240-221-2905
Fax: 240-221-0370
E-mail: jamesj@eyeresearch.org
Website: http://www.eyeresearch.org/
The National Organization of Albinism and Hypopigmentation (NOAH)
PO Box 959
East Hampstead, NH 03826-0959
Toll-free: 800-473-2310;
Telephone: 603-887-2310
E-mail: noah@albinism.org
Website: http://www.albinism.org
Vision of Children Foundation (VOC)
12671 High Bluff Drive, Suite 300
San Diego, CA 92130
Telephone: 858-799-0810
Fax: 858-794-2348
E-mail: cdenofrio@visionofchildren.org
Website: http://www.visionofchildren.org

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Community Resources

The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

Learn More 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

Genetics Home Reference (GHR) contains information on Oculocutaneous albinism. This website is maintained by the National Library of Medicine.
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

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.

News & Events News & Events

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

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

My child has vision issues and a skin condition, which has been diagnosed as oculocutaneous albinism. Are there things I need to know about this condition other than keeping my daughter's skin covered? See answer

Have a question? Contact a GARD Information Specialist.

References References

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