Oculocutaneous albinism type 1
Other Names for this Disease
- Oculocutaneous albinism type 1A
- Oculocutaneous albinism, tyrosinase negative
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nystagmus, and photophobia (eyes are sensitive to light). It is caused by changes in the TYR gene and is inherited in an autosomal recessive fashion.Oculocutaneous albinism type 1 is a condition that affects the coloring of the skin, hair, and eyes. Signs and symptoms include very fair skin, white hair, an increased risk for skin damage with sun exposure, reduced vision (sharpness), light colored irises,
Last updated: 11/7/2011
- Oculocutaneous albinism. Genetics Home Reference. March 2007; http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism. Accessed 10/15/2012.
- Genetics Home Reference (GHR) contains information on Oculocutaneous albinism type 1. This website is maintained by the National Library of Medicine.
- 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 Oculocutaneous albinism type 1. Click on the link to view a sample search on this topic.