Albinism Health Article

Eye problems

The lack of pigment in albinism causes abnormal development in the eye. For example, the iris (the colored ring around the center of the eye), which normally acts as a filter, may let too much light into the eye. Communication between the retina (the surface inside the eye that absorbs light) and the brain may also be altered in people with albinism, causing a lack of depth perception. These changes can lead to visual impairments, such as sensitivity to sunlight, near-sightedness, far-sightedness, or astigmatism (a curvature in the lens that makes it difficult to focus on objects). Other common affects of albinism on the eyes include nystagmus, a constant, involuntary shifting of the eyes from side to side; and strabismus, a disorder of the muscles in the eyes that causes a wandering eye or crossed eyes. Strabismus can interfere with depth perception.

Skin conditions

People with albinism burn easily in the sun. Since they have no pigmentation, or very little, they typically do not tan. Without adequate protection, they are more likely to develop skin cancer. Some people with albinism will have freckles, or large blotches of pigmentation, but they still will not develop a suntan.

Other rare symptoms

People with HPS may experience a variety of health problems related to their unique form of albinism. For example, HPS can cause scarring of the lungs, or fibrosis, which leads to restrictive lung disease and causes fatigue and problems with breathing. Some people with HPS have trouble healing when they cut their skin because the disorder interferes with normal platelet function. Platelets are a component of blood needed for clotting. This complication may cause people with HPS to bruise easily, have frequent nosebleeds or trouble with bleeding gums when brushing their teeth. It also could cause heavy menstrual bleeding and excessive bleeding when a pregnant woman with HPS delivers a child. Intestinal difficulties also are associated with HPS. It can cause a condition called granulomatous colitis, which causes abdominal cramps, intestinal bleeding and diarrhea. People with HPS may also have kidney disease. Other rare forms of albinism may cause deafness or decrease the body's ability to fight infection.

Diagnosis

Physicians are able to diagnose albinism by carefully examining a person's hair, skin, eyes, and family history. Diagnostic testing usually is not necessary, but a genetic test is now available for parents who want to find out if they are carriers of ty-neg albinism. The test also can be performed on an infant by amniocentesis at 16 to 18 weeks gestation.

In the past, doctors used to examine a sample of the root of a person's hair, in a procedure known as a hair-bulb pigmentation test. They also tested hair for the presence of tyrosine, a substance in the body that produces melanin, to determine the type of albinism a person had. Today, however, most physicians believe these tests are not reliable and they are not often used.

To find out if a person has HPS, physicians can take a sample of their blood and examine the platelets under a microscope to look for a lack of clotting ability.

Eye doctors may be able to identify subtle eye changes in women who carry the gene for X-linked ocular albinism. While their eye color may appear normal, female carriers of this type of albinism often have a slight lack of pigment in their retinas.

Treatment and management

People with albinism must shield their sensitive eyes from the sun with UV protected sunglasses. Some find bifocals and other corrective lenses to be helpful. For those with severe forms of albinism, however, corrective lenses may not be able to overcome problems caused by developmental changes in the retina. Children with albinism may require special accommodations, such as large-print textbooks, for reading in school. If visual impairment is severe, it may affect the individual's ability to drive.

For those with strabismus, surgery can alter their appearance, although the procedure may not significantly improve their vision. Before trying surgery, some doctors have children wear an eye patch in an attempt to strengthen the weaker eye. Eye surgery may also help reduce the involuntary eye movements associated with nystagmus, but vision will not always improve.

To prevent sun-related health problems, people with albinism must cover up with a sunscreen of SPF 20 or higher. Protective clothing, hats or visors are essential. Physicians also recommend keeping a careful watch for any changes in birth marks or moles that could become cancerous.

People with HPS should be careful to avoid aspirin, which can reduce clotting, and notify their dentist before having any dental work done. Women with HPS should alert their gynecologist or obstetrician. Some physicians recommend wearing a medical alert bracelet for the bleeding disorder. To avoid exacerbating the lung disease, people with HPS should not smoke.

Children with albinism may need extra support from family or a counselor if they are exposed to teasing or hurtful comments at school. Many families also find support groups to be helpful.