Albinism: What You Need To Know About It

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Albinism: What is it?

Albinism is a rare group of genetic disorders that cause the skin, hair, or eyes to have little or no color. It occurs when there is a reduction or total absence of a pigment called melanin, which is usually found in a person’s skin, hair, and the eyes. Therefore, when this pigment is reduced or absent, the condition is called albinism, explains Dr. Choice Onyinyechi Wereko-Dankwa, an expert on Child Health and Gynaecology at Medifem Multi-Specialist Hospital and Fertility Centre.

According to her, you can inherit albinism at birth if your parents have or carry the gene for albinism. She indicated that medical advances have made it possible to diagnose the condition at birth through a process called genetic sequencing. Genetic sequencing is a process through which doctors are able to take cells from the amniotic fluid of a pregnant woman and use it to conduct a genetic mapping to see whether a gene is deficient in her or she has a chromosome present and which makes her a carrier of albinism.

There is another important factor that can result in you having albinism, and as noted by Dr. Choice, this is linked to your race. Your race is your identity, and this comprises your physical traits (or character), ancestry (or origin), genetics (or heredity) or social relations. With an understanding of what your race is, and how that can be linked to albinism, here is some information for your attention. According to theNational Organization for Albinism and Hypopigmentation, about one in 18,000 to 20,000 people in the United States have a form of albinism.

In the case of people living in Sub-Saharan Africa, about one in every 10,000 is affected by albinism. By this data, where you are from (that is your race or ancestry), has an influence on whether you can possibly have albinism or not.

Are there types of albinism?  

There are different types of albinism which are known as a result of certain gene defects. Although albinism comes in different types, there are two main types which are the: Oculocutaneous Albinism (OCA), and Ocular Albinism (OA).

If you have the OCA type of albinism, there is a change in your skin, hair, and eyes, while if you are having the type OA; it is your eyes that are mostly affected. The Ocular Albinism (OA) occurs almost completely in males than in females. What you must also know is that if you are OA, you will have normal hair, skin, and eye colouring, but no colouring in the retina (the back of the eye).

Symptoms of albinism

Speaking about the symptoms, Dr. Choice noted that the production of melanin is done by an enzyme called tyrosinase which is found in the melanocytes – specialized cells that produce the pigment called melanin. She explained that when melanin is lacking in your body or it has not properly been synthesized (that is mixed well) in your body, you tend to exhibit the following signs: an absence of colour in your hair, skin, or eyes; lighter than normal colouring of your hair, skin, or eyes; and patches of your skin that have an absence of colour.

Apart from this, she said there are also slightly changes related with your vision. In other words, you may experience strabismus (crossed eyes), photophobia (sensitivity to light), nystagmus (involuntary rapid eye movements), impaired vision or blindness, and astigmatism (distorted images).

Treatment and Prevention of albinism

Treatment of albinism can be done to reduce the symptoms. The treatment may include you using sunglasses to protect the eyes from UV rays; putting on protective clothing and sunscreen to protect the skin from UV rays; using prescription eyeglasses to correct vision problems; and surgery on the muscles of the eyes to correct abnormal eye movements.

Besides these modes of treatment, Dr. Choice also made mention of a drug called nitisinone. Approved for use in the U.S., what nitisinone does is to increase the plasma concentration of the tyrosinase, the melanin-producing enzyme which is deficient. Therefore, when doctors apply nitisinone, you can have your skin pigmentation coming up or being recreated. But otherwise, once you have albinism, doctors manage the problem using the earlier mentioned treatment modes, she reiterated.

There is no known cure for albinism.Prevention on the other hand, is also not possible. However, would-be couples are encouraged to see a doctor for a genetic mapping on each other before getting married. This is to help find out whether you have the gene or you are a carrier, and to prevent or avoid the likelihood of having children with albinism.

The Long-Term Outlook

You may have to limit your outdoor activities because your skin and eyes are sensitive to the sun. Ultraviolet rays from the sun can cause skin cancer and vision loss in some people with albinism.

Source:  Interview with Dr. Choice Onyinyechi Wereko-Dankwa, an expert on Child Health and Gynaecology at Medifem Multi-Specialist Hospital and Fertility Centre

http://www.healthline.com/health/albinism#Overview1