What Is Albinism?

Albinism is a rare genetic condition that causes a reduction or lack of melanin. Melanin is the pigment that gives your skin, hair, and eyes their color. People with albinism have pale complexions (skin tones) and are highly sensitive to sun exposure and light. There is no cure for albinism, but treatments help manage symptoms and lifestyle changes can help protect you from the sun's UV rays.

There are many forms of albinism, which occur due to mutations in the genes that produce and distribute melanin. Parents pass down these gene mutations to their children. Albinism occurs worldwide across all racial and ethnic groups. In the United States, approximately 1 in 20,000 people are born with albinism. In some parts of the world, such as sub-Saharan Africa, as many as one in 3,000 people live with the condition.

Types of Albinism 

There are several types of albinism which are categorized into two main types: oculocutaneous and ocular albinism. The types are distinguished based on which gene mutations are involved and how they affect your skin, eye, and hair color.

Oculocutaneous Albinism 

The most common form of albinism, oculocutaneous albinism (OCA), affects the skin, hair, and eyes. There are eight identified subtypes of OCA, each caused by a mutation in a different gene responsible for controlling the production of melanin pigment.

The subtypes of OCA vary in the way they affect pigmentation and vision. People with certain types of OCA may have very pale skin, light or pink-colored irises, white hair, and more severe vision issues. People with other subtypes of OCA may have cream-colored or reddish-tinged skin, yellow or red hair, and milder vision impairments.

Ocular Albinism 

Ocular Albinism (OA), or X-linked ocular albinism, only affects the eyes. This type of albinism does not usually affect skin or hair color, though some people may have slightly lighter skin and hair than the rest of their family members. This form of albinism primarily affects people assigned male at birth, who are born with vision problems (such as decreased vision) and have colorless irises that may appear translucent.

Symptoms

Albinism causes a range of physical signs and eye-related symptoms, which vary depending on the type of albinism you have.

Physical Symptoms

Albinism causes little to no melanin (pigment), leading to physical differences that may include:

• Skin: Very pale or lighter than normal skin 
• Hair: White, light blonde, light brown, or reddish-colored 
• Eyes: Pink, light blue, or gray eyes
  

Eye-Related Symptoms

Melanin is essential for eye development and health. A lack of melanin causes eye problems and vision impairments. In general, those with less pigment have more severe vision problems. That said, albinism can cause the following symptoms:

• Nystagmus: Involuntary, rapid eye movements 
• Strabismus: Crossed eyes
• Photophobia: Sensitivity to light 
• Impaired vision: Nearsightedness, farsightedness, or astigmatism

Causes

Albinism is a genetic condition that is present from birth. A gene mutation (variant) in one of the genes that produces or distributes melanin causes albinism. Melanin is the pigment that gives skin, hair, and eyes their color. Mutations in these genes disrupt normal melanin production or distribution, causing lighter-than-usual hair, skin, and eyes.

A child is born with albinism when both parents carry the same mutated gene for albinism. Albinism is a recessive trait, and most people born with it have parents who do not live with albinism, but both parents carry the gene for albinism. Parents who are carriers of the same gene mutation associated with albinism have a 25% chance of having a child with albinism.

Mutations in different genes cause different types of albinism. Oculocutaneous albinism occurs due to mutations in seven different genes. Each of these genes plays a role in the production of melanin pigment. The subtype of OCA you have depends on which genetic mutation you inherited. Mutations in the GPR143 gene, which plays a role in melanin production in the eyes, cause ocular albinism.

Risk Factors

The following factors can increase your risk of albinism:

• Family history: People who have family members with albinism may be carriers of gene mutations associated with the condition. 
• Race: Albinism affects people of all races and ethnicities but is more common in sub-Saharan and Southern Africa. For example, one in 1,400 people in Tanzania and one in 1,000 in Zimbabwe live with the condition.
• Sex: Ocular albinism primarily affects people assigned male at birth. The gene for this type of albinism is passed from the X chromosome. Women who carry the GPR143 gene mutation have a 50% chance of passing this type of albinism to their male children.

Diagnosis

Albinism diagnosis usually happens at birth based on the appearance of a baby's skin, hair, and eyes, which is typically much lighter than their parents and other family members. Genetic testing can confirm the diagnosis and determine the type of albinism a child has.

With ocular albinism, visible signs of the condition are not always noticeable at birth. To diagnose this type of albinism, an ophthalmologist (a doctor specializing in vision health) will perform a thorough eye examination to look for albinism-related vision problems. The ophthalmologist will look for involuntary or rapid eye movements and crossed eyes during the exam.

They may also perform a test called electroretinography, which measures the eyes' electrical responses to light. First, the healthcare provider places drops into the eyes to help minimize discomfort during the test. Then, they place electrodes (electrical sensors) on each eye, which measure the retina's response to light. In people with albinism, the retina responds more strongly to light due to a lack of pigment.

Treatment

There is no cure for albinism. That said, treatments focus on improving and optimizing vision and protecting the eyes and skin from sun damage. 

Eye Care 

If you have albinism, you should see an ophthalmologist (eye doctor) regularly to monitor your vision and get treatment for any eye or vision problems. Treatments may include:

• Wearing glasses or contact lenses to correct vision impairments
• Getting surgery to correct certain eye problems, such as strabismus (crossed eyes) or vision impairments 
• Using sunglasses to protect the eyes from the sun's UV rays 
• Trying assistive devices for low vision, such as magnifiers, handheld telescopes, large print books, and closed-circuit television systems (CCTV)

Skin Protection 

Taking extra precautions to protect your skin from the sun is essential because low or no melanin can make you more vulnerable to the sun's UV rays and increase your risk of sunburn. Over time, sun exposure also increases the risk of developing skin cancer.

Skin protection measures for albinism include:

• Putting on sunscreen with a sun protection factor (SPF) of 30 or higher and reapplying it every two hours 
• Wearing protective clothing, including hats, long sleeves, sun shirts, and pants 
• Avoiding sun exposure at the peak hours of ultraviolet rays, which is between 10 am to 2 pm standard time or 11 am to 3 pm during daylight savings

How to Prevent Albinism 

Because albinism is a genetic condition, it is not preventable. An estimated 1 in 75 people are carriers of genes for albinism. Genetic counseling can help people with albinism and their families understand the condition and make informed decisions about their care.

If you or your partner have a family history of albinism and plan to have children, meeting with a genetic counselor before conceiving or during pregnancy can help you understand how albinism is inherited and how it might affect your future child(ren). 

Related Conditions 

People with albinism are more likely to have or develop certain related conditions. These conditions are all caused by mutations in genes that control melanin production.

• Hermansky-Pudlak syndrome: A rare genetic disorder that causes albinism as well as bleeding and bruising problems. Some people with Hermansky-Pudlak syndrome also have breathing problems due to pulmonary fibrosis (scarring of the lungs).
• Chediak-Higashi syndrome: A rare genetic disorder associated with albinism that causes pale skin with metallic or silver-colored hair. People with Chediak-Higashi syndrome have weakened immune systems and are more likely to experience recurrent infections that can be serious and potentially life-threatening.
• Griscelli syndrome: A rare genetic disorder that causes very fair skin and silvery-gray hair. People with Griscelli syndrome have cognitive function difficulties, which may include developmental delays and intellectual disabilities. Some also experience weak muscles, seizures, and weakened immune systems.
  

Living With Albinism 

Living with albinism requires ongoing management to protect your skin from the sun's harmful UV rays and regular visits with an eye doctor to address and treat any vision-related problems. With proper management, most people with albinism can expect a normal life span.

People with albinism often experience teasing or bullying because of their unique skin, hair, and eye colors, especially during childhood. This can lead to feelings of self-consciousness about their appearance and social isolation. Connecting with others who live with albinism and their families through local or online support groups can provide a sense of community and camaraderie.

If your child has albinism, accessing resources that promote understanding and awareness in the people your child interacts with—including family, teachers, and peers—can help raise awareness and encourage understanding and inclusivity. Professional counseling can also help you navigate the emotional and social aspects of living with albinism.