Albinism 

Introduction 

Albinism affects production of melanin, the pigment that colours the hair, skin and eyes 

How common is albinism?

It is estimated that about one in 17,000 people in the UK has some form of albinism.

There are several different types of albinism. Most types affect both sexes equally but there is one type, known as ocular albinism (affecting the eyes), that is more common in males. 

Albinism can affect people of all ethnic groups. However, particular types of albinism are more common in different parts of the world. For example, Hermansky Pudlak syndrome is very rare in the UK but affects about one in 2,700 people in Puerto Rico.

Genetics

Find out how you inherit your physical and behavioural characteristics, and about testing for genetic conditions

Albinism affects production of melanin, the pigment that colours skin, hair and eyes.

People with albinism have a reduced amount of melanin or no melanin at all.

Depending on the amount of melanin a person has, they may have very pale hair, skin and eyes, but some may have brown or ginger hair and skin that can tan.

People with albinism usually have a number of eye conditions such as:

  • photophobia (sensitivity to light) – they may feel dazzled by bright light
  • problems with eyesight – they may benefit from wearing glasses, although vision is often still impaired even with glasses (see below)
  • involuntary eye movements (nystagmus)

Read more about the symptoms of albinism

What causes albinism?

Albinism is caused by a lack of the pigment melanin, which usually gives hair, skin and eyes their colour.

In albinism, cells that produce melanin do not work because of genetic mutations (faulty genes). Different genes are responsible for the different types of albinism.

Oculocutaneous albinism (OCA) is the most common type of albinism. Several different genes have been identified that may cause OCA.

Read more about the causes of albinism.

Diagnosing albinism

Albinism is usually obvious when a baby is born.

As albinism can cause a number of eye conditions, your baby’s eyes will need to be examined to see how they are affected. They may be referred to an ophthalmologist (a doctor who specialises in diagnosing and treating eye conditions) for these tests.

Read more about how albinism is diagnosed.

Treating albinism

Albinism itself does not need treatment, but the associated skin and eye problems it can cause do.

A child with albinism will need regular eye tests and it is likely they will need to wear glasses or contact lenses to correct vision problems such as short-sightedness, long-sightedness and astigmatism.  

A person with albinism will need to take extra care in the sun. Without melanin in their skin, ultraviolet (UV) rays in sunlight can easily damage their skin (sunburn).

Read more about how albinism is treated.

Outlook

Albinism does not get worse and the condition does not alter a person's life expectancy. However, people with albinism have an increased risk of developing skin cancer.

Babies with albinism often appear to have severe vision impairment, but their vision rapidly improves during the first six months. However, vision does not reach normal levels and the child will need extra support at school. They will otherwise do well in normal schooling.

Albinism does not affect a child’s intelligence, but may affect their social development. For example, if they are bullied because they look different, they may find it difficult to make friends and play with other children in a group.

This may be partly due to a tendency to invade other children's personal space by getting very close to see. They may also need help finding their friends across a crowded playground.

Young children with albinism may also appear clumsy because their reduced vision can affect their ability to learn certain actions and movements, such as picking up an object or learning how to crawl. As the child develops, and with aids to help their vision, this should improve.




Page last reviewed: 06/11/2012

Next review due: 06/11/2014

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The 1 comments posted are personal views. Any information they give has not been checked and may not be accurate.

chrishps said on 10 March 2011

Albinism is one symptom of Hermansky-Pudlak Syndrome (HPS). HPS includes Albinism with visual impairment, and a bleeding disorder. Hair colour can vary from very fair to brown and can become darker throughout life. Eye colour varies from light grey \ blue to haze l \brown. Most HPS'ers have very fair skin but some have large freckles and dots of pigment - a very few appear to have a very slight tan. All people with HPS have a bleeding tendency that varies from mild to severe. Some HPSers develop pulmonary fibrosis for which there is currently no treatment - it is life limiting. Some develop gastro intestinal problems that resemble Crohn's disease. A very few - particularly children - can get repeated infections and have immuno-deficiency.

HPS is underdiagnosed because doctors mistake it for albinism and do not make the link with pulmonary fibrosis and the Crohn's like symptoms. This is because most doctors have not heard of HPS and because they see Albinism first and do not ask about the bleeding tendency or take a thorough history that would indicate that testing for HPS might be carried out. The HPS Network UK and HPS Network Inc believe that the level of HPS in the UK and across Europe is underestimated and that some people who have been diagnosed with albinism actually have HPS. The figures quoted for Peurto Rico are incorrect. The incidence is 1 in 1800 and the carrier rate is 1 in 20 - higher than many headline diseases.

If you would like more information please contact:
Chris Fenlon
HPS Network UK
Email: chris@hpsnetwork.co.uk
Tel: 01442-399822
Web: www.hpsnetwork.co.uk
www.hpsnetwork.com
The HPS Network UK is a branch of the HPS Network Inc. We welcome new members from families and individuals effected by HPS and those who care for them.

We provide information and support to families and individuals effected by HPS. We also offer information and constructive support for the doctors who care for patients with HPS.

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