definition of Albinism

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  • Topic: Albinism, Melanin, Iris
  • Pages : 2 (746 words )
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  • Published : April 15, 2013
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Albinism is a hereditary deficiency of pigmentation. It is when someone is unable to produce normal amounts of pigment called melanin. It may involve the entire body (complete albinism) or a part of the body (incomplete albinism). It is caused by an enzyme deficiency involving the metabolism of melanin during prenatal development. It is inherited as an autosomal dominate or recessive trait. Autosomes are the chromosomes that contain genes for general body characteristics. Melanin is found in the skin cells of your dermis layer. The genetic cause of Albinism is that there is a deficit in the production of melanin. Melanin is a dark brown to black pigment occurring in the hair, skin, and iris of the eye in people and animals. Melanin is important because it provides color and pigmentation to humans and animals. If someone has albinism they have little to no pigmentation in their eyes, skin, and hair, (oculocutaneous albinism) or in the eyes alone (ocular albinism). So, your eyes, skin, and hair can be affected if you have Albinism. The external expression of Albinism is the expression pattern of the Ocular Albinism Type 1 (Oa1) gene in the Murine Retinal Pigment Epithelium. This particular external expression is for the disorder in the eyes alone, while the hair and skin appear normal. This is used just to categorize Albinism as a whole, not just Albinism in the eyes alone. It is simply the scientific way of naming and categorizing this disorder. People born with Albinism, sometimes the degree or pigmentation varies. Some may gain a little color in their hair or eyes as they age, or some develop pigmented freckles on their skin. A person with the complete absence of melanin is called an Albino. People who have Albinism are very pale with fair hair, and very light eyes. Often times, the eye may appear red or purple, depending on the mount of pigment. This tends to happen because the iris ends up having very little color. The eyes seem pink or red because the blood...
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