Living with albinism
February 4, 2009
Albinism runs in the family and is characterized by a deficiency of pigment or color from the hair, skin and/or eyes. There are different types of albinism, based on the degree of deficiency of pigment.
People with albinism also have reduced vision and several of them are almost blind. People affected by albinism have a faulty retina or faulty nerves, which results in poor or lost vision.
Types of albinism
Oculocutaneous albinism: This type affects the hair and eyes, as well as the skin. Its most severe form causes the hair and skin to remain pure white throughout their life.
Ocular albinism: In this type, only the eyes lack colour, whereas the hair and skin are of normal colour.
Hermansky-Pudlak Syndrome (HPS): It is a rare type of albinism. This type includes a tendency to bleed as well as lung disease. The patient may also have an inflammatory bowel disease or kidney disease. Every patient has a different level of severity of this problem. However, easy bruising and unusual bleeding like repeated nosebleeds and bloody diarrhoea in childhood are warning signs.
Symptoms
Albinism is characterised by the absence of pigment from the hair, skin or iris of eyes. The pigment may be totally absent or be absent in patches from the skin. The skin and hair will be lighter than normal.
Some forms of albinism also have other symptoms like rapid eye movements or nystagmus, eyes not tracking properly or strabismus, avoiding light because of discomfort and decreased visual acuity or even functional blindness.
Causes
When there is a problem in the genes that direct the eyes and skin to make the pigment melanin, this disorder occurs. These faulty genes are normally inherited from parents who carry the abnormal gene.
When one of the genes is abnormal then the other gene is sufficient to give orders to the skin and hair to make pigment, however if both genes are abnormal then the problem occurs. Parents carrying an abnormal gene have a 25% chance of passing on albinism to their children.
Treatment
There is no way to treat the lack of melanin, which is the reason behind most of the symptoms of albinism. However, doctors can treat the vision problems that patients have.
They should avoid excessive exposure to the sun, especially when it is shining the brightest.
Beta-carotene may work to improve the skin colour, though it offers no sun protection.
Tinted glasses are particularly useful for protecting eyes from the sun.
Reading glasses, hand-held and stand magnifiers help people with albinism to look at pictures, and other similar things.
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