1. What is Albinism?

Albinism is a genetic condition that is manifested at birth where a person completely lacks or partially lacks melanin with evidence of pale or ash grey eyes, no colour in hair and the skin.  Albinism affects people from all races and ethnic groups over the world.  The condition affects an estimated 1 in 17,000 people globally. In sub-Saharan Africa, the rate of albinism is around 1 in 5,000 but, in Europe and America, it is closer to 1 in 20,000.[i] (Septmebr2016)

There are mainly two types of albinism

  1. Oculocutaneous (pronounced ock-you-low-kew-TAIN-ee-us) albinism (OCA) involves the eyes, hair and skin.
  2. Ocular albinism (OA), which is much less common, involves only the eyes, while skin and hair may appear similar or slightly lighter than that of other family members.

People with albinism have no peculiar medical condition arising from the skin condition. PWA live up to the life expectancy of each country.  In tropical countries, people with albinism who do not have access to adequate skin protection may develop life-threatening skin cancers. If they use appropriate skin protection, such as sunscreens rated 20 SPF or higher and opaque clothing, people with albinism can enjoy outdoor activities even in summer[ii]

What is the cause of Albinism?

Albinism is passed from parents to their children through genes it is caused by a mutation in one of several genes. The genes in question are responsible for various aspects of the production of melanin by melanocytes in the skin and eyes.

Medical considerations

There are no medical conditions associated with albinism per se. However in rare cases, two diseases can be found in PWAs. Hermansky-Pudlak Syndrome (HPS) and Chediak Higashi Syndrome (CHS)

Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding.

Chediak-Higashi Syndrome is a condition that affects many parts of the body, particularly the immune system Chediak-Higashi syndrome is also characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and light-colored hair, often with a metallic sheen.Oculocutaneous albinism also causes vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia). Many people with Chediak-Higashi syndrome have problems with blood clotting (coagulation) that lead to easy bruising and abnormal bleeding

Treatment for albinism

Because the disease is genetic, there are no cures; treatment revolves around minimizing the symptoms and watching for changes.

Getting the right care for eye problems is essential, including prescription glasses, dark glasses to protect the eyes from the sun, and regular eye exams. It is also important to watch the skin for changes and to use sunblock for protection.

Surgery on the optical muscles can sometimes minimize the “shaking” in nystagmus. Similarly, operations to minimize strabismus can make it less noticeable. The surgery does not improve vision, however, and the level of success in reducing symptoms varies from individual to individual.

Albinism does not get worse with age, and a child with albinism is able to flourish and achieve the same education and employment as a person without the condition.

Social considerations

People with albinism are at risk of discrimination or isolation because the condition is often misunderstood. It is often worse in Africa where the masses are black and PWA stand out with their pale skins which is easily affected by the tropical sun rising the risk of skin cancer.

University of Illinois Chicago School of Medicine 2016

NOAH website

University of Illinois Chicago School of Medicine 2016