Albinism

Courtney Lombardo

What is Albinism?

Albinism occurs when one of several genetic defects makes the body unable to produce or distribute melanin, a natural substance that gives color to your hair, skin, and iris of the eye.

There are two main types of albinism:

Type 1 albinism is caused by defects that affect production of the pigment, melanin.

Type 2 albinism is due to a defect in the "P" gene. People with this type have slight coloring at birth.

How do you get it?

The defects may be passed down through families. Genetic mutations that affect the production of a pigment called melanin. There is a cell called the melanocyte that is responsible for giving skin, hair, and eyes pigmentation. In albinism, the melanocytes are present, but genetic mutations interfere with their pigment production or their ability to distribute it to keratinocytes, the major cell type comprising the epidermis, or outer layer of the skin.

Signs and Symptoms

A person with albinism will have one of the following symptoms:

Absence of color in the hair, skin, or iris of the eye

Lighter than normal skin and hair

Patchy, missing skin color


Many forms of albinism are associated with the following symptoms:

Crossed eyes (strabismus)

Light sensitivity (photophobia)

Rapid eye movements (nystagmus)

Vision problems, or functional blindness


Signs of Albanism:

Fair skin

Blonde/white hair

Reddish eyes

Treatment

Treatment involves protecting the skin and eyes from the sun:

Reduce sunburn risk by avoiding the sun, using sunscreen, and covering up completely with clothing when exposed to the sun.

Sunscreen should have a high sun protection factor (SPF).

Sunglasses (UV protected) may relieve light sensitivity.

Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements (nystagmus).

Other Helpful Websites

National Organization for Albinism and Hypopigmentation -- www.albinism.org


International Albinism Center -- http://albinismdb.med.umn.edu


Hermansky-Pudlak Syndrome Network -- www.hpsnetwork.org