Causes Of Albinism In Humans: Symptoms And Treatment Options

Normal color of skin, eyes and hair is chiefly contributed by melanin, a pigment synthesized by melanocytes cells in the body. Albinism is a rare genetic disorder in which the color producing melanin pigment is absent. As a result the skin, hair and iris of the eye are colorless or have lighter than normal color. People affected with albinism are called albinos.

Due to lack of melanin, they are prone to sunburn and skin cancer from over exposure to sunlight. They also suffer from vision problems. In our body there is an enzyme called tyrosine which is involved in processing color giving pigment melanin.

The disease is caused due to deficiency of this enzyme, or an abnormality in maturation of the pigment melanin.

Albinism is present since birth and there is no cure for this condition. However, people can take protective measures such as applying sunscreen for photosensitivity and wear dark glasses when they go out in sun.

How Does Albinism Occur In Humans?

Albinism is a rare genetic disorder affecting the skin, eyes and hair. According to an estimate 1 out of 20000 people in United States has some type of albinism. This inherited disorder is caused due to mutation of genes.

Normally genes involved for color, instructs protein called tyrosin to produce melanin pigment from melanocyte cells which are present in skin and eyes. However the defect in gene causes absence of this enzyme and thus absence of melanin pigment or reduced amount of melanin.

It is an autosomal recessive condition. Which means a child is born with albinism only when both mother and father have defective gene. If mother and father both are albinos than their children will also suffer from albinism. Transmission of mutated gene from only one parent will make the person carrier without suffering from the condition.

Symptoms Of Albinism In Humans

Albinism is caused by several gene mutations. Regardless of the gene involved, eye problem is definitive feature of albinism. All albinos have impairment in their vision due to abnormality in the optic nerve pathway to the brain. Person also has less or no pigmentation in their skin and hair.

Symptoms of eye:

  • Color of the iris is blue or grey.
  • Abnormality in retina and optic nerve causes reduced sharpness of vision. As a result person experiences difficulty in reading and blurred vision.
  • Rapid involuntary movement of eyes.
  • Person is sensitive to bright light.
  • Nearsightedness and farsightedness.

Skin symptoms:

  • Absence of skin color. As a result the skin may appear white or pink due to photo-sensitivity.
  • Some people may have mild pigmentation as they grow up into adulthood.
  • Due to sun exposure a person may develop freckles, pink colored moles and lentigines.

Hair symptoms:

  • Albinos commonly have snow white hair. People with Asian and African origin may have red or brown hair. The color of hair sometimes become dark as the child grows.

Albinos are generally healthy as other individuals. But some people with albinism may develop increased bleeding tendency and bruising from slight trauma. Some may have frequent episodes of infections due to associated defect in white blood cell production.

Treatment Options For Albinism

There is no definite cure for albinism. The main aim is to reduce damage to skin and eyes by following supportive measures. Children with albinism need skin and eye care right from childhood in order to prevent skin photo-sensitivity and vision problems.

  • Person may need prescription glasses to correct vision problems. He may have to wear dark sun glasses when he is out in sunlight. Although rare, some people may need surgery of ocular muscles to reduce frequent rapid movement of the eye.
  • Applying sunscreen before going out in sun is beneficial to prevent sunburn. It will also help to prevent skin cancer. As an alternative, person can wear special UV proof clothing when exposed to sunlight.
  • Albinos suffering from bleeding disorder should avoid blood thinning medicines due to increased risk of bleeding.