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Partially sighted skiing Paralympian from the Sochi Olympics, Kelly Gallagher

Partially sighted skiing Paralympian from the Sochi Olympics, Kelly Gallagher
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Albinism

3-minute read

What is albinism?

Albinism is a group of genetic conditions in which a person has no or very little melanin pigment in their skin, hair and eyes. Albinism occurs in all racial and ethnic groups throughout the world. In Australia, about 1 in 17,000 people have some type of albinism.

It is important for people with albinism to protect their skin and eyes from the sun, and have their eyes checked regularly.

The genes for albinism are passed down from both parents, who may not be directly affected by it themselves. However, there is no simple test to determine whether a person carries a gene for albinism.

What are the types of albinism?

There are 2 main types of albinism:

  • oculocutaneous albinism, in which the hair, skin and eyes are all affected
  • ocular albinism, which is much less common, and involves only the eyes. The skin and hair colour appears similar to that of family members

There are also some extremely rare conditions where people have albinism and other health problems. Examples are Hermansky Pudlak syndrome, Chediak Higashi syndrome and Griscelli syndrome.

What are the signs and symptoms of albinism?

Some children with albinism are born with pinkish-white skin and white hair. Their eyes are usually light grey, blue or hazel, although they can look pink in the light.

People with albinism usually have poor vision. Glasses can help, but some have poor vision even with glasses. Several eye conditions can affect people with albinism including nystagmus, which is horizontal back and forth movement of the eyes, and photophobia, which is sensitivity to bright light and glare.

How is albinism diagnosed?

Usually, albinism is picked up at birth. Genetic testing can help confirm the diagnosis.

Living with albinism

People with albinism have a higher risk than others of sunburn, skin problems and skin cancer. Given Australia's climate, good sun protection for the skin is essential, as well as sunglasses to protect the eyes.

People with albinism can also suffer from discrimination. Good support for all involved can help deal with it.

Resources and support

The Albinism Fellowship of Australia provides support and education to people with albinism, parents of children with albinism, and their families and friends.

More information

Visit healthdirect's genetic disorders guide to learn more about genes, types of genetic disorders and where to go for help and more information.

Learn more here about the development and quality assurance of healthdirect content.

Last reviewed: August 2020


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