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Oculocutaneous albinism

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Definition

noun

A type of albinism in which both the eyes and the skin are affected resulting in photosensitive, reddish eyes, pale skin, and whitish hair (which are indications of the lack of sufficient pigment production)


Supplement

Albinism in humans is a disorder characterized by having a partial or a complete absence of pigmentation. There are two types of albinism in humans, i.e. the oculocutaneous albinism and the ocular albinism. In oculocutaneous albinism, the individual would have a very pale skin, photosensitive eyes with reduced pigmentation, and white hair. There are four types of oculocutaneous albinism: type 1 (OCA1), type 2 (OCA2), type 3 (OCA3), and type 4 (OCA4). In ocular albinism, the condition affects the eyes only and not the hair and the skin. Both the oculocutaneous and cutaneous albinisms are typically associated with vision problems such as nystagmus, photophobia, and reduced sharpness. Individuals who are partially lacking in pigmentation are referred to as an albinoid whereas those who are completely lacking in pigmentation are called an albino. Epidemiologically, the oculocutaneous albinism has a worldwide estimated prevalence of 1/17,000.1

Oculocutaneous albinism is associated with mutations in genes involved in melanin production within the melanocytes.2 Examples of these genes are oculocutaneous albinism II (OCA2) gene, TYRP1 gene, and TYR gene.


Abbreviation / Acronym: OCA

Word origin: oculo- (eye) + cutaneous (skin), albinism, from Latin albus (white)

See also:

Reference(s):
1 Oculocutaneous albinism. (2013). Retrieved from http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=55
2 Oculocutaneous albinism. (2007). Retrieved from http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism