Albinism is an inherited condition that is present at birth, categorised by a lack of pigment that normally gives color to the skin, hair, and eyes. Many types of albinism exist, all of which involve lack of pigment in various places.
The frequency of albinism is 1 in 20,000 people (0.005% of people)
Albinism is extremely rare, it occurs mostly in undeveloped countries such as Nigeria. Countries such as this have a higher place of having the disorder than more developed nations.
Signs and Symptoms - These include white hair colour and pale skin, certain eye problems and the sensitivity to the sun. For some, exposure to the sun can cause freckles, moles (with or without colour) and large spots. Signs and symptoms of albinism in relation to the eyes include, rapid, involuntary movement of the eyes (nystagmus). Inability for both eyes to stay centred at the same point or to move together (strabismus). Extreme nearsightedness or farsightedness. Sensitivity to light (photophobia). Abnormal curve of the front surface of a persons eye or the lens inside an eye (astigmatism), which causes blurred vision.
Genetics - Albinism is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. Most often, the parents of a person with an autosomal recessive condition each carry one of the mutated gene, but they may not show signs and symptoms of the condition. In X-linked inheritance, the gene for albinism is located on an X chromosome.
Location - It is located on an X chromosome and appears mostly in males.
Identifying Albinism - Genetic testing offers the most accurate way to diagnose albinism. Such testing is helpful if a person has a family history of the albinism disorder. A doctor may also diagnose the condition based on the appearance of a persons skin, hair, and eyes. An ophthalmologist may perform a electroretinogram test, which can reveal vision problems related to albinism. A visual based potentials test can be very useful when the diagnosis is uncertain.
Prognosis - Albinism does not usually affect a persons lifespan. However, Hermansky-Pudlak syndrome can shorten a person's life due to lung disease or bleeding problems. People with albinism may be limited in certain activities due to the fact that they can't tolerate the sun.
Treatment - There isn't treatment that is 'official' apart except from treatment for eye conditions that a pesos may have. But precautions can be taken such as protection from the sun by using sunscreen, sun protective clothing, glasses and other means of protecting oneself from the sun.
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Living with an Albino Child
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