Albinism is a genetic disorder. However, people from many cultures have developed several beliefs and myths related to people suffering from albinism. They are mocked, ill-treated, and sometimes even abused. In some cultures, they are even believed to be evil or are used in witchcraft.  Through this article, we are bringing the facts and some vital information about this medical condition.

What is Albinism? What are its Symptoms?

Albinism is a rare defect of production of melanin that results in little or no pigmentation in the skin, hair and eyes. As these melanin pigments are responsible for the brown, black, and yellow colorations, their absence cause the skin, hair and eyes to have little or no color. People suffering from it appear white or very pale. This constitutes the primary symptoms of albinism. Other symptoms may include vision problems such as crossed eyes, sensitivity to light, involuntary rapid eye movements and impaired vision.

Ocular albinism affects only eyes in the form of no coloring in the retina. Hermansky-Pudlak Syndrome is a rare form of albinism where in addition to absence of pigmentation, the patient also suffers from lung, bowel and bleeding disorders.

Causes of Albinism

Oculocutaneous albinism affecting the color of skin, hair and eyes is a result of defective genes passed from both parents. This type of albinism may also be caused due to deregulation of a copper containing enzyme called tyrosinase which is responsible for the production of melanin.

Ocular Albinism is caused by a gene mutation on the X chromosome and is more frequent in males. There are also some rare forms of albinism that are usually inherited from only one parent. Genetic mutations are also believed to be another cause for abnormality in melanin production.

Source : Wikipedia

Diagnosis of Albinism

The presence of albinism and its type and nature can be determined through genetic testing. This test procedure on albinism involves detecting defective genes that are related to this condition. In case of vision conditions that are related to albinism, electroretinogram can be helpful. This test is designed to measure the response of light sensitive cells in the eyes.

Classification and External Resources

  • Specialty : Dermatology
  • ICD-10 : E70.3
  • ICD-9-CM : 270.2
  • OMIM : 203100 103470, 203200, 606952, 203290, 203300, 203310, 256710, 278400, 214450, 214500, 220900, 300500, 300600, 300650, 300700, 600501, 604228, 606574, 606952, 607624, 609227
  • DiseasesDB : 318
  • MedlinePlus : 1479
  • eMedicine : derm/12
  • Patient UK : Albinism
  • MeSH : D000417

Treatment on Albinism

Unfortunately, there is no cure and prevention for albinism. However, using some medical interventions and precautions, relief from certain symptoms is possible. The following section lists such interventions and precautions:

  • Avoidance of too much exposure to sun and use of proper clothing to ensure protection from UV rays
  • Regular check-ups by a dermatologist
  • Surgery to decrease the severity of certain vision conditions such as abnormal movement or shaking of eyes back and forth and even crossed eyes
  • Use of dermatologist prescribed sunscreen with high SPF (Sun Protection Factor)
  • Use of sunglasses to protect eyes from UV rays
  • Use of vision aids and glasses such as bifocals, prescription reading glasses, magnifiers, bioptics, and colored contact lenses

Prevention of Albinism

Although prevention of albinism is not possible, these precautions can ensure relief from several symptoms. However, what is actually required to help people suffering from albinism to lead a happy life is social acceptance.

What is Albinism?