Not Just Skin Deep
Pale skin and fair hair are the most visible signs of albinism, but this genetic condition can impair vision and cause other health problems. By Rear Adm. Joyce Johnson, D.O.

Albinism usually refers to a disorder in which a person’s skin and hair are unusually pale because of a lack of melanin. Melanin is produced by a melanocyte, a type of cell found in the skin, the hair follicles, and parts of the eye. Producing melanin is a complex process requiring many steps and enzymes (proteins that help specific chemical reactions to take place).
 
When any one of these enzymes is abnormal or missing, melanin production is impaired. These enzymes are genetically based, so albinism is transmitted genetically. Some forms of albinism are carried on recessive genes, while others are transmitted through the X chromosome.

While melanin’s role in skin and hair color is well known, it also plays a significant role in the development of nerve pathways of the eyes, and albinism can result in a variety of vision problems. In a normal eye, the pigment absorbs light. When pigment is lacking, the light refracts (bounces around) within the eye, which increases the effects of the light. Albinism also can cause nearsightedness, farsightedness, and astigmatism. Nystagmus, a fast, repetitive, involuntary side-to-side eye movement, also is common.

Strabismus, or “crossed eyes,” can be part of the syndrome. Strabismus usually is treated with surgery to cut the muscles that hold the eye in place, so the eye can be centered. With most other causes of strabismus, surgery corrects both the appearance of the eye and the vision. In the case of albinism, however, the problem is neurological, so surgically repairing the muscles does not alter the misrouted nerve pathways, and the eyes are not able to work together to gain depth perception. Surgery is primarily cosmetic in this case.

While oculocutaneous (eye and skin) albinism includes white- or light-colored hair and lack of melanin in the eyes, not all albinism results in light-colored skin. People with ocular albinism can have several eye problems but normal skin and hair color. Another type of albinism, in which the variant of the enzyme that is needed to make melanin is most functional at cooler temperatures, results in white hair under the arms and on the head with darker hair on the arms and legs. Other types may cause abnormalities in blood clotting and vision, lung fibrosis, and bowel problems.

There is no treatment to reverse melanin deficiency. Most people with albinism will have a normal lifespan, though those with a particular type, Hermansky-Pudlak syndrome, could die prematurely from lung or other problems.

Aside from visual problems, long-term consequences of albinism include skin cancer, which can be treated if diagnosed in its early stages. Minimizing sun exposure with protective clothing, sunscreen, sunglasses, etcetera is important for people with albinism (as it is for everyone).