Understanding Albinism

Albinism is a condition which results from the body’s inability to produce normal amounts of melanin. Albinism affects both humans and animals. Lack of melanin results in lack of pigment in the skin, hair and eyes.

What is melanin?

Albinism is characterized by having a very, very pale appearance. Melanin is a chemical in our bodies that gives color to our skin, eyes, and hair. It is made by melanocytes, the cells that are found in the bottom layer of your skin.

Besides giving your skin, eyes, and hair its color, melanin helps protect your skin from the sun. When exposed to the sun, melanin darkens your skin to give it more protection from the sun’s rays. Without enough melanin, your skin won’t be able to protect itself.

Albinos should avoid being exposed to the sun’s rays for a long period of time because they can get sunburned easily. People with albinism or albinos can spend time outdoors, but have to use lots of sunscreen and watch the amount of time they spend under the sun. People with albinism should also consult their doctor to know if it’s okay to spend any amount of time under the sun.

What causes albinism?

Albinism is a genetic disease. A child can have albinism if both parents carry the albinism gene. If only one parent has this gene, the kid will only be a carrier and not possess the typical characteristics of an albino. If this kid grows up and marries an albino gene carrier too, then their kid (or kids) will have albinism.

Types of Albinism

There are two types of albinism: Oculocutaneous albinism (OCA) and Ocular Albinism.

Oculocutaneous albinism has three sub-types:

OCA 1 – is caused by a gene on chromosome 11. It is inherited as an autosomal recessive trait or both parents must have a defective gene for their child to have the disorder. It often causes complete lack of pigment is the skin, hair and eyes. Some albinos however, may have some amount of pigmentation.

OCA 2 – is caused by a gene on chromosome 15. It is also inherited as an autosomal recessive trait. It causes a minimal to moderate degree of pigmentation in the skin, hair and eyes.

OCA 3 – is caused by a gene on chromosome 9, also inherited as an autosomal recessive trait. It is difficult to immediately identify this type. The condition is most identifiable when a very light-skinned child is born to dark-skinned parents.

Ocular albinism on the other hand, is caused by a gene on the female (X) chromosome. As with the Oculocutaneous albinism, ocular albinism is also a recessive trait. A male who inherits a defective X chromosome will have ocular albinism. A female on the other hand, would have to inherit two defective X chromosomes to have this condition.

Vision Problems

Most people with albinism have blue eyes. Others have brownish eyes. In some cases of albinism, a person’s eyes might appear pink or reddish. This doesn’t mean that his/her iris is red or pink. It is because his/her iris actually has very little color and the blood vessels inside of the eye (on the retina) show through the iris, making the eyes appear pink or red.

Some people with albinism wear glasses or contact lenses to help them see better. Others may require eye surgery. Consult your doctor to know if you need to have corrective measures done. An eye doctor can help a person with albinism see better.

Another problem for people with albinism is that their eyes can be very sensitive to light. The iris normally helps control the amount of light that comes into your eye and hit your retina, which is located at the back of your eyeball.

When a person has albinism, the iris doesn’t have enough color and can’t properly shield the retina from light. People with albinism often squint in bright light.

Here are some specific effects of each type of albinism on the eyes:

OCA 1 – causes sensitivity to light (photophobia). It decreases visual acuity and involuntary eye twitching (nystagmus).

OCA 2 – It also causes similar eye problems to OCA type 1.

OCA 3 – OCA type 3 also causes eye problems, but they are milder than those of OCA type 1 and 2.

Ocular albinism affects only the eyes. It causes minimal pigmentation, making the iris appear translucent. It also causes reduced visual acuity, nystagmus and problems controlling eye movement may occur.

To alleviate this problem, you can wear sunglasses or tinted contact lenses to help you feel more comfortable out in the sun or under bright light.