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Albinism Victoria Blum January 7, 2011 Mrs. Kelley

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Albinism in a Glance  The clinical definition for albinism is an inherited condition in which melanocytes do not synthesize melanin owing to a lack of tyrosinase. An albino’s skin is pink, the hair is very white or pale, the irises of the eyes un-pigmented or poorly so.  So in easier terms, the parts of your skin, hair, and irises that make a protein (melanin) don’t work quite right. This is because there is a lack of tyrosinase in the body.  One person in 17,000 in the U.S. has some sort of albinism.  It affects all races.  The saying that people with albinism have red eyes is actually a myth. They usually have blue eyes. Some have hazel or brown, and even fewer have violet.

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Causes  Albinism is caused by a mutation in one of several different genes.  In order for an offspring to be born with albinism, they must get a mutated gene from both parents. If a person only gets one gene they won’t get the disorder.

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Different Kinds of Albinism    

There are a few different ways that researchers have discovered to classify albinism. It is classified by which of several mutated genes has been altered. There are two major kinds of albinism. Oculocutaneous albinism and Ocular albinism. There are also two very rare forms of albinism called Chediak-Higashi syndrome and HermanskyPudlak syndrome.

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Oculocutaneous and Ocular Albinism  Oculocutaneous albinism (OCA) involves a light appearance to the hair, skin, and eyes.  It is also the most common form of albinism.  Ocular albinism (OA), much less common, mainly involves the eyes, even though the hair and skin may appear slightly lighter than that of their family members that do not have albinism.  Ocular albinism sufferers are almost always males.

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Chediak-Higashi and Hermansky-Pudlak Syndromes  Hermansky-Pudlak syndrome is a very rare albinism disorder caused by one of seven mutated genes. People with this disorder have signs and symptoms like those of oculocutaneous albinism, but they also develop lung and bowel diseases and a bleeding disorder.

 Chediak-Higashi syndrome is a rare form of albinism caused by a mutation in a gene on chromosome 1. Signs and symptoms are alike to those of oculocutaneous albinism. The hair is normally brown or blond with a silvery shine, and the skin is usually creamy white to grayish. People with this syndrome have a defect with white blood cells that result in a vulnerability to infections.

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Symptoms for the Skin  The most recognizable form of albinism is when a person has a milky white tone to their skin.  The skin can actually have a range from milky white to slightly lighter than that of family members without albinism.  Some people with albinism have a skin tone that remains the same throughout their lifetime, however some, as they get older, may begin to produce melanin.  This will not allow them to “get tan,” but they may get freckles, moles (with or without pigment), or large freckle spots called lentigines.  Some people may have their general skin tone darken by one or two shades.

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Symptoms for the Hair and Eye Color  Hair color can vary from very white to brown. People of African or Asian origin who have albinism may have hair color that is yellow, reddish, or brown.  People with albinism normally have blue eyes, but they may also have hazel or brown.  Very few people with albinism have violet eyes.

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Symptoms for the Eyes  All people with albinism suffer severe vision problems.  Most are considered “legally blind,” but may drive with bioptics.  Bioptics are glasses with small telescopes mounted on, in, or behind their regular lenses. This is done so that a person can look through the regular lens or the telescope.  They also may suffer from nystagmus, which is the rapid movement of the eye back and forth, strabismus, which is the inability to keep their eyes both focused in the same direction, and photophobia, which is sensitivity to light.  They may be extremely near- or farsighted, and have astigmatism.

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Treatments  Albinism is a genetic disorder, so there isn’t really much doctors or anyone can do to correct it, and interventions are limited.  A person with albinism may need to wear prescription lenses to provide some vision enhancements. They will also need an annual eye exam by an ophthalmologist.  Surgery is rare, but can be performed on the eye muscles to minimize nystagmus. Surgery to correct strabismus might make the albinism less noticeable, but it won’t improve their vision.  An annual scan for skin cancer and lesions that may lead to skin cancer is necessary throughout the lifetime of a sufferer.  People with Hermansky-Pudlak and Chediak-Higashi syndromes usually require regular specialized care to prevent complications.

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Cure  There is no cure for albinism.

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Complications  Skin disorders. o Sunburn o Skin cancer o Pachyderma, when the skin becomes coarse, rough, and thick.  Social and emotional factors o According to the Mayo Clinic the following factors could lead to low self-esteem, depression, and stress in people with albinism:  (1) Children with albinism often experience name-calling, teasing or questions regarding their appearance, eyewear or visual aid devices. (2) Many people with albinism find the word "albino" hurtful because they're being labeled simply on the basis of a condition rather than being thought of as individuals. (3) A long history of myths has attributed supernatural powers or deviant personalities to people with albinism. (4) People with albinism usually look very different from members of their own families or ethnic groups and, therefore, may either feel like outsiders or be treated like outsiders.

victoria's book  

medical book

victoria's book  

medical book