Albinism is a genetic condition that affects pigmentation in the skin, hair, and eyes. It can cause vision problems, including sensitivity to light and legal blindness. The condition has almost no impact on life expectancy or overall health in humans, but can lead to psychosocial issues due to prejudice and false beliefs. Sunscreen and preventive care are important to reduce the risk of skin cancer. Hermansky-Pudlak syndrome is a rare form that can cause excessive bleeding, lung disease, and intestinal disease.
Albinism is a recessively inherited condition that affects approximately one in 17,000 people. A person who inherits it usually inherits a recessive gene for the condition from each parent, although this is not the case with ocular albinism. The condition, while often fatal in other animals, has almost no impact on life expectancy or overall health in humans, but does affect vision to varying degrees.
Those affected by albinism have hypopigmentation, which can affect both the eyes alone (ocular); or the skin, eyes and hair (oculocutaneous). Hypopigmentation means that the affected person does not produce enough melanin, the chemical responsible for the color of hair, eyes and skin. Within these two subsets, there is variation in the amount of pigmentation a person may have, so that people with the condition don’t always look the same color or appearance.
Ocular albinism can significantly affect vision because retinal development is often affected. This type seems to occur mostly in males. The eyes are very light blue or purple. They are not, as is often believed, completely white.
Effects on vision vary, but can include nearsightedness or farsightedness. Nystagmus, in which the eyes move rapidly back and forth, may also occur. Lazy eye or crossed eyes can be the main result of the condition.
Ocular albinism can also lead to sensitivity to light and, in some cases, legal blindness. Treatment focuses on repairing or reducing the effects of various eye conditions. Most treatments are palliative, especially when it comes to light sensitivity, such as wearing high-quality sunglasses when outdoors. Vision problems, when possible, are addressed with glasses, or eye training for lazy eye.
In oculocutaneous albinism, not only the eyes but also the skin and hair are very light. The skin may appear white. The hair is blond, or sometimes red. Visual conditions such as those associated with ocular albinism may be present.
The degree of pigmentation is classified into types. Type 1 produces virtually no pigment. Type 2 produces some pigment. Therefore, all people with this condition are not alike.
The most important preventive care for those suffering from hypopigmentation is to alleviate vision problems and use a sunscreen of at least 20 SPF when outdoors. Although some people with type 2 may be able to tan, a lack of melanin in either type can later lead to an increased risk of skin cancer. This, in part, has been responsible for the belief that albinism shortens lifespan. In places where sunscreen is not available, it often results in fatal melanoma.
There is a final type that poses a significant threat to health. Hermansky-Pudlak syndrome is a form that can cause excessive bleeding, lung disease, and intestinal disease. If a child has albinism, parents should be vigilant and speak to a pediatrician if they notice any abnormal bleeding or bruising.
In most cases, however, the most significant factors resulting from albinism are psychosocial. Prejudice exists towards anything or anyone who is different and can be particularly difficult in countries where most are dark-skinned. False beliefs in some cultures include that albinism causes sterility, or that a person’s lack of pigmentation means they are cursed. Care should be taken to disseminate the correct information about this condition so that the social stigma can be eradicated.
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