Albinism is a condition where the body produces little or no pigment (melanin). Melanin determines the color of your skin, hair, and eyes. It also plays a key role in the development and function of the eyes, which is why people with albinism often experience vision problems.

The symptoms of albinism are typically visible in the skin, hair, and eyes, although there can be some variation. People with albinism are more sensitive to sunlight and are at a higher risk for skin cancer.

Causes of Albinism

Several genes provide the instructions for making proteins that are involved in melanin production. Melanin is created by cells called melanocytes. Albinism occurs when one of these genes is altered, resulting in little or no melanin production.

Albinism is classified into different types based on how it is inherited and the specific gene that is affected.

Ocular Albinism (OCA) is the most common type and occurs when a person inherits two altered copies of a gene, one from each parent. Ocular albinism primarily affects the eyes and leads to severe vision problems.

Albinism can also occur alongside rare hereditary syndromes. For example, Hermansky-Pudlak Syndrome involves ocular albinism along with bleeding problems, bruising, and lung and bowel diseases.

Chediak-Higashi Syndrome also involves ocular albinism, as well as immune problems, repeated infections, brain and nerve issues, bleeding disorders, and other serious health problems.

Symptoms of Albinism

The symptoms of albinism mainly affect the skin, hair, and eyes.

Skin

The most basic form of albinism presents as very light skin compared to siblings or other relatives. However, skin and hair color can range from white to brown. People of African descent with albinism may have light brown or reddish-brown skin and freckles. For some, their skin color may be almost the same as that of their parents or siblings without albinism.

With sun exposure, people with albinism may experience:

• Freckles
• Pink-colored moles
• Large spots called solar lentigines
• Sunburn and an inability to tan.

For some people with albinism, the skin color may never change. For others, melanin production may begin or increase during childhood or adolescence, resulting in minor changes in skin color.

Hair

Hair color can range from very white to brown. Exposure to minerals in water, environmental factors, or aging can cause the hair to appear darker or duller.

Eyes

Eyebrows and eyelashes are often light-colored. Eye color can range from very light blue to brown and may change with age.

In albinism, the iris, or the colored part of the eye, typically lacks sufficient pigment, allowing light to pass through, making the eyes highly sensitive to bright light. This is why very light-colored eyes may appear red in bright light.

Vision problems are a key feature of all types of albinism. These may include:

• Rapid, involuntary eye movements, known as nystagmus.
• An abnormal head posture, such as tilting the head to reduce eye movements and improve vision.
• Eyes that cannot focus on the same point simultaneously, a condition called strabismus.
• Difficulty seeing objects up close or at a distance (farsightedness or nearsightedness).
• Extreme sensitivity to light, known as photophobia.
• Irregular curvature of the eye’s surface or lens, called astigmatism, leading to blurred vision.
• Poor depth perception, meaning people cannot see objects in three dimensions.

When to See a Doctor

At birth, a doctor may notice a lack of pigmentation in the hair or skin, affecting the eyebrows and eyelashes. The doctor will likely recommend an eye exam and check any changes in the child’s skin or vision.

If you notice symptoms of albinism in your child, consult a doctor.

If a child with albinism experiences frequent nosebleeds, bruising, or prolonged infections, see a doctor. These could indicate a rare but serious hereditary condition.

Risk Factors

Risk factors depend on whether one or both parents carry the albinism gene.

People with albinism are extremely sensitive to sunlight. Sunburn is one of the most serious consequences. Prolonged exposure to the sun can cause rough, thickened skin and increase the risk of skin cancer.

Because of the lack of pigment in the skin, a type of skin cancer called melanoma may appear as pink or red lumps or moles instead of the usual black or brown color. This can make early detection of skin cancer more difficult for people with albinism. Without regular skin checks, melanoma may go unnoticed until it has advanced.

In addition to skin and eye issues, albinism can also lead to social, emotional, and psychological challenges.

Vision problems can affect learning, employment, and the ability to drive. Some people with albinism may also experience discrimination. People’s reactions to those with albinism can have a negative impact.

Individuals with albinism may experience bullying or ridicule, or they may face intrusive questions about their appearance, glasses, or visual aids, which can be uncomfortable. They may feel alienated from their family members or ethnic group, leading to feelings of being treated as outsiders.

These experiences can lead to social isolation, low self-esteem, and stress, particularly during childhood and adolescence, causing psychological and anxiety issues.

The term “person with albinism” is preferred to avoid the negative impact that other terms may carry.

If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a child with albinism in the future. The counselor can also explain available genetic testing options.

Although there is no cure for albinism, individuals with this condition can take necessary steps to protect their skin and eyes.