Albinism

By: Haley Sims and Cheyann Shelton

Definition

Congenital disorder characterized by the complete or partial absence of pigment in the skin, hair, and eyes due to the absence or defect of tyrosinase.

Symptoms of Albinism

  • Some Symptoms involve the absence of color in hair, skin, or eyes.
  • People who have the disorder has lighter than normal coloring of the hair, skin, and eyes.
  • They also have patches of skin that have an absence of color.
  • This may also include vision problems: crossed eyes, sensitivity to light, involuntary rapid eye movements, impaired vision or blindness, and astigmatisms

What part of the body is affected?

How is the disorder inherited and what are the causes?

  • Autosomal
  • The disorder is located on the x-chromosome.
  • It is also a recessive.

How common is it and what is the probability of inheritance?

One person in 17,000 has some type of Albinism. If a wife and husband have Albinism, their offspring has a 25% chance of having the disorder. If both parents are carriers of the gene, then the offspring has a 50% chance of carrying the disorder.
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What are the common names of Albinism?

Some common names are Albinism, Albino, hypo-pigmentation, and achromia.

Types of medications/therapys

  • Sunglasses: to protect the eyes from UV rays
  • Protective clothing and sunscreen: to protect the skin from UV rays.
  • Surgery on the muscles of the eyes: to correct abnormal eye movements.

Could Albinism be prevented and is it curable?

Albinism cannot be prevented. However, if albinism runs in your family, or if you know your family tree carries albinism gene mutations, you could speak with a genetic counselor to plan a family. And unfortunately, it is not curable.

What types of groups or people are likely to have the disorder?

It is most common in sub-Saharan Africans, African Americans, and also Native Americans.

How are people diagnosed?

The most accurate way to diagnose albinism is through genetic testing to detect defective genes related to albinism. Another way to test if a person has albinism is by the electroretinogram test. This is a test that measures the response of the light-sensitive cells in the eyes to reveal eye problems associated with albinism.

What medical research is being done?

Medical research is being done in order to find better ways of treating albinism. A research team from Brown University conducted a search which shows that the protein is necessary for the proper functioning of an ion channel, which is where the melanin is made and stored. This can lead to advances in treating albinism.

Interesting Facts

-Albinism doesn’t only happen in humans, it can happen in any animal.

-Have a higher risk of developing skin cancer

-People with albinism tend to live longer

-Genetic mutations are believed to be the main cause of albinism.

-This disorder is caused due to a lack of melanin in the body.