Albinism is a congenital condition which refers to a group of disorders involving pigmentation of an individual’s hair, eyes and skin. The word albinism comes from the Latin “albus”, meaning white. It is also known as achromia, achromasia, or achromatosis.
People with albinism have inherited altered genes which do not produce the usual amount of a pigment called melanin, resulting in very pale skin, extremely fair hair and very light eyes. Albinism is found in humans of all races, animals and plants.
According to The National Organization for Albinism and Hypopigmentation (NOAH), approximately one in every 17,000 Americans is affected by some form of the disease. These children are usually born to parents who have normal pigmentation for their ethnicity, but who both carry a defective gene without developing the disorder.
The degree of pigmentation varies. When there is no pigmentation at all, the person is called an albino. When a small amount of pigmentation is present, the individual is referred to as albinoid. Their hair tends to be yellow or red tinged and their vision may be better. All forms of albinism are, however, associated with vision problems that can not be corrected with glasses. An eye examination is actually the main test for albinism. If abnormal development of the retina, as well as abnormal patterns in the nerve connections between the eye and the brain are found, a diagnosis of albinism is certain.
Albino eyes can appear red or purple because there is very little color and blood vessels inside the eye show through the iris. Photo sensitivity is a big problem and tinted contact lenses or sunglasses to reduce glare are essential.
Albinism can be classified in two broad categories. Oculocutaneous albinism (OCA) involves a person’s hair, eyes and skin. The ocular form of the disorder (OA) is far less common and involves only the eyes.
Recent research using analysis of DNA has further classified OCA into four main forms, OCA1-4, and some of them are divided into subtypes as well. Several other groups of genes resulting in the same disorder but with different features have also been identified. One such group includes at least eight genes leading to Hermansky-Pudlak Syndrome (HPS), which is associated with bleeding problems and easy bruising in addition to the usual symptoms of albinism. Some individuals with HPS also develop a lung disease called pulmonary fibrosis, colitis (inflammation of the large intestine) and kidney failure.
Skin problems are focused around sun exposure. Melanin helps to protect skin against the sun’s ultraviolet rays, so people with albinism have to be extremely careful and take extra precautions to avoid sun damage to their skins.
The overall health of people with albinism is average for their age and for the rest of their genetic makeup. People with HPS might experience a shorter lifespan due to the particular problems associated with the syndrome involving immunodeficiency; and Griscelli Syndrome involving immunodeficiency; and Chediak-Higashi Syndrome which damages immune system cells can add other life threatening challenges.
Albino’s are often socially isolated and mocked. Sometimes they become targets of violence because of their societies’ fears of their different appearance. In some African cultures, such as Tanzania, they become victims of witchcraft because it is believed their body parts have magical properties.
There is no cure for this disorder. Only the symptoms can be treated and aids such as sunglasses and sunscreen can minimize damage. A person living with albinism can however without doubt still lead a happy and fulfilling life.
For parents who already have a child with confirmed albinism, subsequent pregnancies can be tested by amniocentesis for the disorder. Genetic tests to simply determine whether a person carries the defective gene are unfortunately inconclusive.