Understanding albinism

Dr Tendai Zuze
ALBINISM is a defect of melanin production that results in little or no colour (pigment) in the skin, hair, and eyes. It occurs when one of several genetic defects makes the body unable to produce or distribute melanin, a natural

substance that gives colour to your hair, skin, and iris of the eye. The defects may be passed down through families.

The most severe form of albinism is called oculocutaneous albinism. People with this type of albinism have white or pink hair, skin, and iris colour, as well as vision problems. Another type of albinism, called ocular albinism, affects only the eyes. The person’s skin and eye colours are usually in the normal range. However, an eye exam will show that there is no colouring in the back of the eye (retina). Other complex diseases may lead to loss of colouring in only a certain area (localised albinism).

A person with albinism will have one of the following symptoms:

Absence of colour in the hair, skin, or iris of the eye

Lighter than normal skin and hair

Patchy, missing skin colour

Many forms of albinism are associated with the following symptoms:

Crossed eyes (strabismus)

Light sensitivity (photophobia)

Rapid eye movements (nystagmus)

Vision problems, or functional blindness

In some cases, albinism is not obvious and genetic testing offers the most accurate way to diagnose the condition. Such testing is helpful if you have a family history of albinism. It is also useful for certain groups of people who are known to get the disease. Your doctor will, however, usually diagnose the condition based on the appearance of your skin, hair, and eyes. An ophthalmologist may perform a test that can reveal vision problems related to albinism.

The goal of treatment in albinism is to relieve symptoms. Treatment depends on the severity of the disorder.

Treatment involves protecting the skin and eyes from the sun:

Reduce sunburn risk by avoiding the sun, using sunscreen, and covering up completely with clothing when exposed to the sun.

Sunscreen should have a high sun protection factor (SPF) of at least 30.

Sunglasses (UV protected) may relieve light sensitivity.

Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements (nystagmus).

Albinism does not usually affect one’s lifespan. Some genetic syndromes related to albinism can, however, shorten lifespan due to lung disease or bleeding problems. People with albinism may be limited in their activities because they can’t tolerate the sun.

The commonest medical problems associated with albinism are decreased vision and skin cancer. If you have albinism, see your doctor if you notice any skin changes that might be an early sign of skin cancer. People with albinism are at increased risk of sunburn and skin cancer, which are caused by sunlight damage to skin because they lack melanin (pigment) which ordinarily protects the skin from such.

Sunscreen should be thickly applied at least 15 minutes before going out in the sun.

For maximum protection, choose a lotion that protects against both UVA and UVB rays.

You should also:

Avoid going out when it is very hot and the sun is at its strongest (between 11am and 3pm)

When buying sunglasses, choose a pair that have UV filters

When out in the sun, cover up with a hat and loose-fitting clothing, such as a long-sleeved top

If you are having problems related to albinism, please visit your doctor.