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Albinism
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Albinism is a genetic condition where people are born without the usual pigment (color) in their bodies. Their bodies aren't able to make a normal amount of melanin, the chemical that is responsible for eye, skin, and hair color. So most people with albinism have very pale skin, hair, and eyes. Albinism can affect people of all races, and there are different kinds of albinism.
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Albinism is a genetic condition which is inherited from an individual's parents. For OCA, an individual must inherit an altered albinism gene from both parents. Where an individual receives one albinism gene and one normal gene, that person will not show outward signs of the condition, but will become a carrier. Where two carriers have a child together, that child will have a one in four chance of getting two albinism genes and having albinism. The child will have one in four chances of getting neither albinism gene, having normal pigment, and not being a carrier. The child has two in four chances of getting one normal and one albinism gene, having normal pigment but being a carrier.
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The different syndromes of Oculocutaneous Albinism have distinctive characteristics and symptoms. Hermansky-Pudlak Syndrome and Chediak-Higashi Syndrome are two different syndromes of Oculocutaneous Albinism that are characterized by a loss of pigment. Other symptoms of Hermansky-Pudlak Syndrome may include abnormalities of fat (lipid) and platelet storage and/or one or both eyes being abnormally small (microphthalmos). There may ... be delayed physical and mental development. Chediak-Higashi Syndrome is characterized by abnormalities of the white blood cells (leukocytic disease), predisposition to infections and a high risk of lymphatic (lymphoreticular) malignancies.
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Albinism does not have a cure; ... there are many different types of treatment that can alleviate the symptoms for a little while. Since albinism affects the eyes, albinos can wear normal or special eyeglasses. Twitching of the eyes (nystogmus) can be partially corrected with contact lenses, surgery, head tilts, and closing the offending eye. Albinos cannot be exposed to a lot of light and sun. Therefore, they wear dark/tint-adjusted lenses, hats, and visors. When outside, they also must wear sunscreen; overexposure to ultraviolet rays can result in skin cancer.
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Symptoms of Albinism develop due to a lack of the enzyme tyrosinase. Melanin is a brown or black pigment that is usually present in the skin, hair and the iris of the eye. Tyrosinase is an enzyme that acts to convert tyrosine into melanin. Melanin is then stored in special pigment-carrying cells known as melanocytes. If tyrosinase is absent and/or does not function properly, melanin is not incorporated into the melanocytes nor maintained in these cells. This results in the absence of color in the skin, hair and eyes.
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Albinism is rare. In the United States, about 1 in 17,000 individuals overall has some form of albinism. All races are affected, though Type 1 occurs predominantly in whites and Type 2 in blacks. Most children with albinism are born to parents with normal hair and skin color for their ethnic background.
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Albinism