Albinism

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Albinism (from Latin albus, "white"; see extended etymology, also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of an enzyme involved in the production of melanin. Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans. The most common term used for an organism affected by albinism is "albino". Additional clinical adjectives sometimes used to refer to animals are "albinoid" and "albinic".

Albinism is associated with a number of vision defects, such as photophobia, nystagmus and astigmatism. Lack of skin pigmentation makes the organism more susceptible to sunburn and skin cancers.

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Classification in humans

There are two main categories of albinism in humans:

  • In oculocutaneous albinism Types 1-4 with different levels with pigmentation (despite its Latin-derived name meaning "eye-and-skin" albinism), pigment is lacking in the eyes, skin and hair. (The equivalent mutation in non-humans also results in lack of melanin in the fur, scales or feathers.) People with oculocutaneous albinism can have anything from no pigment at all to almost normal levels.
  • In ocular albinism, only the eyes lack pigment. People who have ocular albinism have generally normal skin and hair color, although it is typically lighter than either parent. Many even have a normal eye appearance. Also, ocular albinism is generally sex-linked, therefore males are more likely to be affected. Males are without another X chromosome to mask recessive alleles on the X they inherit.

Other conditions include albinism as part of their presentation. These include Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, Waardenburg syndrome, and Tietz syndrome. These conditions are sometimes classified with albinism.[1] Several have sub-types. Some are easily distinguished by appearance, but in most cases genetic testing is the only way to be certain.

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