What Is Albinism?
Albinism is when you’re born with little or no pigment in your hair, eyes, and skin. The missing pigment is called melanin. Albinism usually makes your coloring lighter than is typical for your family or ethnic background.
Oculocutaneous albinism (OCA) is the most common and most serious kind. It can make your hair, eyes, and skin look noticeably different. There are eight subtypes of OCA, depending on the genes involved (OCA1A, OCA1B, OCA2, OCA3, OCA4, OCA5, OCA6, and OCA7).
Ocular albinism (OA) affects only your eyes.
Both forms take a toll on your vision.
Albinism also can be linked to a few rare conditions caused by a problem with your genes:
- Hermansky-Pudlak syndrome. This is a rare form of albinism that also causes easy bruising and bleeding.
- Chediak-Higashi syndrome. Another rare form of albinism, this can cause a low red blood cell count (anemia) and an enlarged liver and can make you more likely to get infections.
- Griscelli syndrome type 2. Also called partial albinism and immunodeficiency syndrome, this is a rare condition that’s caused by a faulty gene. Symptoms include light skin, silver hair, and serious problems with your immune system that can eventually damage organs and tissues.
Skin symptoms of albinism: It often appears pale white, cream, or pink. But people with ocular albinism may have skin that’s brown or otherwise similar to the color of their relatives without albinism.
Some children born with albinism may start or speed up production of melanin as they grow into their teens. Their skin may turn a bit darker. People with albinism can burn easily in the sun and are more likely to get skin cancer, some as early as in their teens.
Eye symptoms of albinism: Blue eyes are most common in people with albinism. But sometimes their iris, the colored part of the eye, can lack so much pigment that they appear pink or reddish from the blood vessels.
Melanin is critical for the growth of optic nerves that let you focus on images like printed words and faces. Even with glasses or contacts, the problem can’t be corrected to normal vision.
Signs of albinism may not be easily visible in everyone. So issues with your eyes or eyesight may be the first clue that you may have the condition. Other symptoms include if your eyes:
Your vision likely will be worse the less color you have in your eyes. On the other hand, your eyesight should stay stable over time, and you’ll see colors normally. Some people with albinism may see well enough to be able to drive with restrictions, such as only during the day or in specific areas.
Hair. Your hair, eyelashes, and eyebrows could range from very white, yellow, or even reddish. As you get older, your hair may darken to blond or even light brown.
Albinism Causes and Risk Factors
Faulty genes passed down from your parents prevent your body from making enough melanin. Different types of albinism stem from defects in different enzymes and proteins in your DNA.
Albinism is often obvious in newborns. A genetic test can confirm it. Your doctor probably will compare your baby’s skin and hair to those of family members. An eye doctor, or ophthalmologist, may run a test called an electroretinography to check for vision problems linked to albinism.
Albinism isn’t curable. The focus of treatment is to manage your symptoms or related conditions.
Surgery or glasses. They may correct strabismus, or crossed eyes, that often comes with albinism. This is when your eyes aren’t lined up or point in different directions.
Low-vision aids. Small telescopes that attach to glasses can help you see faraway objects better. Microscopes or magnifiers do the same with things that are closer up. Tinted glasses or contact lenses may ease your sensitivity to light.
School aids. Books with bigger print, closed-circuit televisions, and video presentations can help with classwork, as can working with a “teacher of visually impaired” -- an educator who specializes in teaching students who have vision issues.
Medication. Researchers have tested drugs on people with albinism to help boost pigments in hair and skin and to improve vision. A small pilot study showed that the drugs l-dihydroxyphenylalanine and nitisinone may help raise the level of melanin to slightly darken hair and skin. But it found no effect on vision.
If someone in your family has albinism, you can talk with a genetic counselor, a professional who specializes in advising people about their risks of inheriting certain conditions. They can help you understand how likely you are to have a child with albinism and explain the kinds of tests that are available.
Albinism makes you more likely to get skin cancer, but on its own, it won’t affect your life span. It’s important to limit your exposure to sunlight and be aware of the symptoms of skin cancer.
A few other simple steps can help you avoid or ease many common problems linked to albinism.
- Get checked for skin cancer every 6-12 months.
- Stay out of the sun if possible, and always wear a tinted broad-spectrum sunscreen with 8% zinc oxide or higher and SPF 30, a hat, sunglasses, long-sleeved shirts, and long pants.
- Get regular eye exams at least every 2-3 years.
Albinism is often very visible to other people. That may leave you feeling isolated or shunned. Talking to a mental health counselor or others who live with the condition may help. Support groups can offer you emotional support and practical tips. You can connect with a community online or through groups like the National Organization for Albinism and Hypopigmentation or Council of Citizens with Low Vision International.