Taken from:
http://en.wikipedia.org/wiki/Albinism
AlbinismAlbinism (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.
Signs and Symptoms
Most albinistic humans appear white or very pale as the melanin pigments responsible for brown, black, and some yellow colorations are not present.
Because individuals with albinism have skin that partially or entirely lacks the dark pigment melanin, which helps protect the skin from the sun's
ultraviolet radiation, their skin can
burn more easily from overexposure.
[3]
The human eye normally produces enough pigment to colour the iris and lend opacity to the eye. However, there are cases in which the eyes of an albinistic person appear red or purple, depending on the amount of pigment present. Lack of pigment in the eyes also results in problems with vision, related and unrelated to
photosensitivity.
The albinistic are generally as healthy as the rest of the population (but see related disorders below), with growth and development occurring as normal, and albinism by itself does not cause mortality,
[4] although the lack of pigment increases the risk of skin cancer and other problems.
Genetics
Most forms of albinism are the result of the
biological inheritance of
genetically recessive alleles (
genes) passed from both parents of an individual, though some rare forms are inherited from only one parent. There are other
genetic mutations which are proven to be associated with albinism. All alterations, however, lead to changes in melanin production in the body.
[4][7]
The chance of offspring with albinism resulting from the pairing of an organism with albinism and one without albinism is low. However, because organisms can be carriers of genes for albinism without exhibiting any traits, albinistic offspring can be produced by two non-albinistic parents. Albinism usually occurs with equal frequency in both genders.
[4] An exception to this is ocular albinism, which it is passed on to offspring through X-linked inheritance. Thus, ocular albinism occurs more frequently in males as they have a single X and Y chromosome, unlike females, whose genetics are characterized by two X chromosomes.
[8]
There are two different forms of albinism; a partial lack of the melanin is known as hypomelanism, or hypomelanosis and the total absence of melanin is known as
amelanism or amelanosis.