Albinism is caused by a defect in the body’s production of melanin, which is the substance within your body that creates the color of your eyes, skin, and hair.
This disorder causes the body to produce little to no melanin. As a result, individuals with albinism are more sensitive to the sun’s rays, and they also have a higher risk of skin cancer.
Symptoms of albinism include a lack of color in the iris of the eye, the skin, and the hair. A person may also have hair and skin that is lighter than what would be considered normal. There may even be patches on the skin where color is missing.
In addition to the symptoms associated with a person’s appearance, albinism can cause sensitivity to light, vision issues, functional blindness, rapid movements of the eyes, and crossed eyes.
Albinism occurs as the result of a mutation in one of several genes. The commonality of these mutations is that each of the genes provides instructions to make one of the many proteins needed for the body to make melanin. Melanin is the responsibility of the cells aptly named melanocytes. These cells are typically found in your skin and eyes, but are absent in those born with albinism. One of the possible mutations can result in a complete lack of melanin. Alternatively, the condition can just result in a large reduction in the amount of melanin.
In some versions of albinism, the impacted person has to inherit two copies of the same mutated gene (one from the mother and one from the father) in order to inherit albinism through recessive inheritance.
As an example, one type of albinism, called X-linked ocular albinism, occurs nearly exclusively in males. It is caused by a mutation of a gene on the X chromosome. People born with ocular albinism have vision issues, however, their hair, skin, and eye color are typically considered normal or somewhat lighter than other family members, but they are at an increased risk of passing on albinism.
Treating albinism is meant to help relieve the symptoms that are associated with the condition. Treatments will ultimately depend upon the severity of the disorder, but they will typically involve measures that will protect the eyes and the skin from the sun.
An individual can reduce the risk of sunburn by applying sunscreen with a high SPF, covering the body with clothes, or avoiding sun exposure. To protect the eyes, sunglasses that provide UV protection can be worn.
To correct eye position and vision problems, glasses can be prescribed, and eye muscle surgery could be used to correct any abnormal movements of the eyes.
Because albinism is genetic, there is no lifestyle change or preventative measures that will keep it from occurring. The only way to avoid it is to stop all possible genetic combinations that would result in the recessive genotype that makes albinism combinations possible.
If you have a family member with albinism, you and your spouse should consult a genetic counselor so that you know the odds of having a child with albinism. The counselor will tell you about available tests and help you understand the advantages and disadvantages of testing your family member with albinism.
Since albinism leads to a higher rate of vision problems and skin cancer, it may be better to focus on taking preventive measures for these and other skin conditions that tend to afflict those with the condition.