Oculocutaneous albinism
Dernière mise à jour 22 nov. 2024
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Oculocutaneous albinism is a group of conditions that affect the colour of (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition.
Description
Oculocutaneous albinism is a group of conditions that affect the colour of (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition.
Oculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); eyes that do not point in the same direction (strabismus); and increased sensitivity to light (photophobia).
Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye colour changes, and by their genetic cause. Oculocutaneous albinism type 1 is characterised by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually pale and hair may be light yellow, blond, or light brown. Type 3 causes reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen in people with type 2.
There are several additional, rare types of oculocutaneous albinism.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Albinism, oculocutaneous
OCA
Related patient information and medicines
Patient information leaflet
Albinisme
Albinism is a rare inherited (genetic) condition which reduces the amount of of melanin pigment in the skin, hair and/or eyes. What is albinism. Albinism is an inherited condition that leads to someone having very light skin, hair, and eyes. Oculocutaneous albinism (OCA) involves the eyes, hair and skin. ... Oculocutaneous albinism (OCA) Seven.
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Problèmes oculaires
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Problèmes visuels
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Cancer de la peau non mélanome
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Lectures complémentaires et références
- Oculocutaneous albinism; MedlinePlus, National Library of Medicine.
- Brilliant MH. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Res. 2001 Apr;14(2):86-93. doi: 10.1034/j.1600-0749.2001.140203.x.
- Gronskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43.
- Inagaki K, Suzuki T, Shimizu H, Ishii N, Umezawa Y, Tada J, Kikuchi N, Takata M, Takamori K, Kishibe M, Tanaka M, Miyamura Y, Ito S, Tomita Y. Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. Am J Hum Genet. 2004 Mar;74(3):466-71. doi: 10.1086/382195. Epub 2004 Feb 11.
- Kamaraj B, Purohit R. Mutational analysis of oculocutaneous albinism: a compact review. Biomed Res Int. 2014;2014:905472. doi: 10.1155/2014/905472. Epub 2014 Jun 29.
- Kromberg JGR, Flynn KA, Kerr RA. Determining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review. Invest Ophthalmol Vis Sci. 2023 Jul 3;64(10):14. doi: 10.1167/iovs.64.10.14.
- Montoliu L, Gronskov K, Wei AH, Martinez-Garcia M, Fernandez A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, Rosenberg T, Li W. Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res. 2014 Jan;27(1):11-8. doi: 10.1111/pcmr.12167. Epub 2013 Oct 17.
- Oetting WS, Fryer JP, Shriram S, King RA. Oculocutaneous albinism type 1: the last 100 years. Pigment Cell Res. 2003 Jun;16(3):307-11. doi: 10.1034/j.1600-0749.2003.00045.x.
- Rundshagen U, Zuhlke C, Opitz S, Schwinger E, Kasmann-Kellner B. Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Hum Mutat. 2004 Feb;23(2):106-110. doi: 10.1002/humu.10311.
- Sarangarajan R, Boissy RE. Tyrp1 and oculocutaneous albinism type 3. Pigment Cell Res. 2001 Dec;14(6):437-44. doi: 10.1034/j.1600-0749.2001.140603.x.
- Suzuki T, Okamura K. Oculocutaneous Albinism Type 4. 2005 Nov 17 [updated 2026 Feb 12]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1510/
- Thomas MG, Zippin J, Brooks BP. Oculocutaneous Albinism and Ocular Albinism Overview. 2023 Apr 13. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK590568/
- Yi Z, Garrison N, Cohen-Barak O, Karafet TM, King RA, Erickson RP, Hammer MF, Brilliant MH. A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. Am J Hum Genet. 2003 Jan;72(1):62-72. doi: 10.1086/345380. Epub 2002 Dec 5.
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