Albinism

By: Tina Menezes

What is Albinism?

Albinism is a hereditary disorder where a person has little or no pigment in their hair, eyes, and skin. Albinism occurs when Tyrosinase, an enzyme involved in the production of melanin (color pigment), is missing.

There are two different kinds of albinism: a partial lack of the melanin is known as Hypomelanism and a complete lack of melanin is known as Amelanism. Most types of albinism come from inheriting the recessive alleles from both parents.

Symptoms:

  • Absence of color in the hair, skin, or iris of the eye


  • Lighter than normal skin and hair


  • Patchy, missing skin color


  • Crossed eyes/strabismus


  • Light sensitivity/photophobia


  • Rapid eye movements


  • Vision problems/blindness


Diagnosing Albinism

The most accurate way to diagnose albinism is through genetic testing. If you have a history in your family for albinism, this kind of testing would be useful. There are also certain groups of people that are known to get the disease, that this would be useful for. A person with albinism can be diagnosed based on appearance. If the person has skin, hair, or eyes that seem to be lacking pigment then you probably have albinism.


Treatment

When someone has albinism they should always wear sunscreen or cover-up when going outside since their skin is very sensitive. They should also wear sunglasses because of light sensitivity. Albinism generally doesn’t affect life expectancy but it can increase the chances for skin cancer and there is a certain type of albinism (Hermansky-Pudlak Syndrome) which has the tendency for lung diseases and bleeding: that could also shorten life expectancy.


If someone you know has albinism...

If you have a baby with albinism their eyesight may be very poor at first and won't be able to make eye contact, but as they get older their eyesight will improve a bit. They will have some challenges with driving, reading, playing sports ext. because of their bad vision.



Melanin - Understanding Albinism.
Albinism: Caught Between Dark and Light

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