National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Oculocutaneous Albinism is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- brown oculocutaneous albinism
- minimal pigment oculocutaneous albinism
- oculocutaneous albinism type 1B
- platinum oculocutaneous albinism
- rufous oculocutaneous albinism
- temperature-sensitive oculocutaneous albinism
- tyrosinase-negative oculocutaneous albinism
- tyrosinase-positive oculocutaneous albinism
- tyrosinase-related OCA
- yellow oculocutaneous albinism
- oculocutaneous albinism type 1A
Oculocutaneous albinism (OCA) is a group of rare inherited disorders characterized by a reduction or complete lack of melanin pigment in the skin, hair and eyes. These conditions are caused by mutations in specific genes that are necessary for the production of melanin pigment in specialized cells called melanocytes. Absent or insufficient melanin pigment results in abnormal development of the eyes, resulting in vision abnormalities, and light skin that is very susceptible to damage from the sun including skin cancer. Visual changes include nystagmus (involuntary side to side eye movement), strabismus and photophobia (sensitivity to light). Other changes include foveal hypoplasia (which affects visual acuity) and mis-routing of the optic nerves. All individuals with OCA have the above visual changes but the amount of skin, hair and iris pigment can vary depending on the gene (or type of OCA) and mutation involved.
There are seven types of OCA (OCA1-7) caused by mutations in seven different genes. Oculocutaneous albinism is inherited as an autosomal recessive genetic condition.
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- Lancashire, BB11 5GN
- United Kingdom
- Tel: 7919543518
- Tel: 447919543518
- Email: firstname.lastname@example.org
- Website: http://www.albinism.org.uk
Genetic and Rare Diseases (GARD) Information Center
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- Gaithersburg, MD 20898-8126
- Tel: (301)251-4925
- Fax: (301)251-4911
- Tel: (888)205-2311
- Website: http://rarediseases.info.nih.gov/GARD/
March of Dimes Birth Defects Foundation
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Website: http://www.marchofdimes.com
NIH/National Institute of Child Health and Human Development
- 31 Center Dr
- Building 31, Room 2A32
- Bethesda, MD 20892
- Fax: (866)760-5947
- Tel: (800)370-2943
- Email: NICHDInformationResourceCenter@mail.nih.gov
- Website: http://www.nichd.nih.gov/
National Organization for Albinism and Hypopigmentation (NOAH)
- PO Box 959
- East Hempstead, NH 03826-0959
- Tel: (603)887-2310
- Fax: (800)648-2310
- Tel: (800)473-2310
- Email: email@example.com
- Website: http://www.albinism.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 1/13/1970
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