What is albinism?

Albinism

Albinism is the term used to describe a lack of pigment in the skin, hair, and/or eyes. It is a genetic disorder that usually happens when a baby inherits two copies of the affected gene, one from each parent, although it can very rarely occur as a spontaneous genetic mutation. Albinism is rare, affecting about five in 100,000 people throughout the world. It affects all races, and is most common in people of African, particularly Nigerian, descent.

Why does albinism happen?
Albinism is what is known as a recessive genetic disorder. Genes contain all the information about a person’s body and are stored on 23 pairs of chromosomes (think of them as books or files in which information is kept). An individual inherits 23 single chromosomes from each parent, which join together into 23 pairs at conception. The gene for albinism is recessive, which means it isn’t powerful enough to “switch on” by itself – usually it is overpowered (known as dominated) by the healthy gene on the other chromosome. Therefore you need to inherit two copies of the albinism gene (ie one from each parent) in order to be affected by it,

If you inherit only one gene you will be what is known as a carrier and you will be unaffected, or only slightly affected (it is usually the eyes that are affected in these cases – see below). Any child that you have will have a 50% chance of inheriting the albinism gene from you and also of becoming a carrier; if your partner is also a carrier, your child will stand a 50% chance of being a carrier and a 25% chance of being albino. Parents who have had a child with albinism may wish to talk to a genetic counsellor if they are planning another baby – if this is the case, ask your doctor to refer you.

How does albinism affect the body?
In the most severe forms, the skin and hair are snowy white, and the eyes colourless. In less severe forms the skin may be translucent at birth, but darken slightly with age, with freckles frequently developing where the skin that is exposed to sunlight. The hair may become light blond and eyes may be very pale pink, blue, or grey. The eyes usually flicker constantly (known as nystagmus) and, because of the lack of protective pigment inside the eyes, are invariably sensitive to strong light (known as photophobia). Many people with albinism are short sighted, and some are registered blind. Strabismus (squints – when one or both eyes turn inwards or downwards) are also quite common. Albino skin has little or no pigment to protect it from radiation in sunlight, which means it is very prone to sun damage of all kinds, including burning, premature wrinkles and lines, and cancer.

What else should I be aware of?
The visual problems that many albinos experience can lead to profound learning difficulties with visual skills such as reading, writing, etc, for obvious reasons. It is essential that such children are given the support they need to reach their full potential – a school for the visually impaired may be the best option in some cases. Bullying can be a problem for children with albinism – children can be very cruel and tend to focus on anyone who is different.

What can be done?
There is no cure for albinism, although it is possible that one day scientists may be able to create the necessary enzyme to stimulate the production of melanin in the body. In the mean time, corrective treatment for the eyes and protection for the skin are the main ways of minimising potential problems:

* Eyes – tinted spectacles or contact lenses can help cut down photophobia (coloured contact lenses can also help the eyes look more normal), correct short-sightedness, and may help with a squint (although an operation may be necessary in some cases). Nystagamus (flicker) is more difficult to overcome, but a behavioural optometrist may be able to help – contact the address below for further information.

* Skin – people with albinism should use a high-factor sunblock whenever they are outside in bright or sunny weather (even in the winter) and should wear protective clothing, including a hat.

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