Amaiya Chiles

What is it?

Albinism includes a group of inherited disorders that are characterized by little or no production of the pigment melanin.


- Signs of albinism are usually, but not always, apparent in a person's skin, hair and eye color. However, all people with the disorder experience vision problems.

- Although the most recognizable form of albinism results in white hair and pinkish skin, skin coloring (pigmentation) can range from white to brown, and may be nearly the same as that of parents or siblings without albinism.

- With exposure to the sun, some people may develop:

  • Freckles
  • Moles, with or without pigment — moles without pigment are generally pink-colored
  • Lentigines
  • The ability to tan

- Hair color can range from very white to brown. Those that are of Asian or African descent are more likely to have blond, reddish or brown hair.

- Signs and symptoms of albinism related to eye function include:

  • Nystagmus
  • Strabismus
  • Extreme nearsightedness or farsightedness
  • Photophobia
  • Astigmatism


Albinism is caused by a mutation in one of the several different genes that control the production of melanin. Melanin controls the pigmentation (color) of the eyes, skin and hair. You must get one copy of the mutated gene from each parent to be albino, if not you're just a carrier.


Oculocutaneous Albinism-

This type is caused by a mutation in one of four different genes. There are also four different sub-types of this type.

- OCA type 1 can result with pale, milky white skin, white hair and blue eyes at birth. Some people with this type never start melanin production but some do in early childhood. Their hair may become a golden blond, brown or red, and their irises may change color and lose some translucence.

- OCA type 2 is most common in sub-Saharan Africans, African-Americans and Native Americans. Their hair may be yellow, auburn, ginger or red. The eyes will often be blue-grey or tan and their skin is white at birth. Over time with sun exposure they may develop freckles, moles or lentigines.

- OCA type 3 is mostly found in black South Africans. They usually have reddish-brown skin, ginger or reddish hair, and hazel or brown eyes.

- OCA type 4 is basically the same as OCA type 2 but in those of East Asian descent.

X-linked ocular Albinism-

Normally only appears in men. They pretty much only have the vision problems that are linked in albinism. Their hair, skin and eyes are generally in the normal spectrum, maybe a little lighter.

Hermansky-Pudlak Syndrome-

Caused by a mutation in one of at least eight different genes. The disorder is most common in Puerto Rico. It's generally the same as Oculocutaneous Albinism but those affected can also develop lung and bowel diseases as well as a bleeding disorder.

Chediak-Higashi Syndrome-

A rare form of albinism associated with a mutation in the LYST gene. Again, it's similar to Oculocutaneous Albinism but the hair is brown or blond with a silvery sheen and the skin is usually a creamy white or greyish. However, the people with this form of albinism have a defect in white blood cells that increases their risk of infections.


People with Albinism are at a higher risk for sunburns and skin cancers.

People with Albinism can also be subjected to name-calling and teasing because of how different they look from other people and because of their visual problems. Because of this they can often be stressed or have low self-esteem.

Interesting Statistics and Facts

- One person in 17,000 has some type of albinism.

- Some patients with albinism have white hair and very light blue eyes, others have blonde hair and blue eyes, and some even have brown hair and eyes. The findings may be subtle and a person may not even know that he or she has albinism.

- When both parents carry the gene, and neither parent has albinism, there is a one-in-four chance at each pregnancy that the baby will be born with albinism.

- Generally rare for someone with albinism to have pink or reddish eyes.

- If the two parents are carriers for the same type of albinism, the offspring has a 25% chance of having albinism, a 50% chance of being a carrier, and a 25% chance of having two “normal” genes.


Honestly, there is no way to prevent albinism. But if you do have a family member with albinism you can talk to a genetic counselor to find out what's the probability of having a child with albinism yourself.