Albinism refers to a group of inherited disorders where there is little or no production of the pigment melanin.
The type and amount of melanin your body produces determines the colour of your skin, hair and eyes. Melanin also plays a role in the development of optic nerves, so people with albinism have vision problems.
A defect in one of several genes that produce or distribute melanin causes albinism. The defect may result in the absence of melanin production, or a reduced amount of melanin production. The defective gene passes down from both parents to the child and leads to albinism.
Most people with albinism have snow-white skin, snow-white hair, and no pigment in their eyes.
The iris (coloured part of the eye that encircles the pupil) is a pale bluish pinkish colour, while the pupil may actually be red.
This redness comes from light entering the pupil and reflecting off of blood vessels in the retina, the light-sensitive layer of tissue lining the back of the eyeball. Normally, the pupil appears black because pigment molecules in the retina absorb light entering the eye, preventing it from bouncing back to the outside world.
Without pigment in the skin, you are more susceptible to non-melanoma skin cancers in keratinocytes. Albinos are particularly at risk for squamous cell carcinoma, a cancer of the outermost layer of skin, and basal cell carcinoma affecting deeper layers. They also may experience premature skin aging. Melanin helps prevents wrinkles and elastosis (breakdown of elasticity) by blocking UV radiation.
There are no treatments for albinism and patients with albinism are advised to protect themselves from the sun.
Some researchers, such as Richard King at the University of Minnesota, are trying to develop gene therapies, or drugs that would go into the cells and correct DNA mutations responsible for albinism. So far, scientists have had some success in correcting patches of depigmented skin and hair in mice, but they are a long way from translating this research to humans.
Albinism can't be prevented because it is caused by gene mutations passed down by parents.
However, if albinism runs in your family, or if you know your family tree carries albinism gene mutations, you may wish to speak with a genetic counsellor on planning your family.
