Signs and symptoms of albinism

In albinism,t he lack of the pigmentmelanin affects the colour of a person'shair, skin and/or eyes.

The most common type of albinism, called oculocutaneous albinism (OCA), affects all of these. A rarer typecalledocular albinism (OA) mainly affects the eyes, although a person with the condition may also have skin and hair that is fairer than the rest of their family.

Hair and skin

A personwith albinism will oftenhave white or very light blonde hair. However,some people have brown or ginger hair. The exact hair colour will depend on how much melanin their body produces.

People with albinism also have very pale skin thatwill usually nottan and burns easily in the sun.

Eyes

A personwith albinismis missing the pigment from their irises (the coloured part of the eye). As a result, they willusually have very pale blue or grey eyes. The missing pigment can also cause other eye conditions, such as:

• pooreyesight either Short-sightedness (myopia)or long-sightedness (hyperopia), and low vision (sight loss that cannot be corrected)
• astigmatism where the cornea (front of the eye) is not a perfectly curved shape or the lensis an abnormal shape, causing blurred vision
• photophobia where the eyes are sensitive to light
• nystagmus where the eyes move uncontrollably from side to side, causing reduced vision; however, despite the eyes of a person with albinism constantly moving, they do not see the world as "wobbling" because their brain adapts to their moving eyes
• squint where the eyes point in different directions

Young babies with albinism often appear to have severe vision problems and, although their sight tends to rapidly improve during the first six months, itwill never usually reach normal levels.

Young children with albinism may 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. But as the child develops, and with aids to help their vision, this should improve.

Related conditions

Signs and symptoms of albinism can also be found in people withsimilar conditions, such asHermansky Pudlak syndrome (HPS) andChediak-Higashi syndrome (CHS).

These are rare genetic conditions that can cause other symptoms in addition to the signs of albinism described above.

HPS can also cause bleeding disorders, such as uncontrollable bleeding or bruising easily. It can also affect the heart, kidneys, lungs and gut. CHS can weaken the immune system and lead to an increased risk of infections.

Speak to your GP if your child has albinism and you notice that they bleed a lot, bruise easily, or that they become ill frequently.