In this group of inherited disorders, the body makes little or no melanin, a pigment that determines hair, skin and eye color and vision development.
The term albinism usually refers to oculocutaneous (ok-u-low-ku-TAY-nee-us) albinism (OCA). OCA is a group of disorders passed down in families where the body makes little or none of a substance called melanin. The type and amount of melanin in your body determines the color of your skin, hair and eyes. Melanin also plays a role in the development and function of the eyes, so people with albinism have vision problems.
Symptoms of albinism are usually seen in a person's skin, hair and eye color, but sometimes differences are slight. People with albinism are also sensitive to the effects of the sun, so they're at higher risk of getting skin cancer.
Although there's no cure for albinism, people with the disorder can take steps to protect their skin and eyes and get proper eye and skin care.
Symptoms of albinism involve skin, hair and eye color, as well as vision.
The easiest form of albinism to see results in white hair and very light-colored skin compared with siblings or other blood relatives. But skin coloring, also called pigmentation, and hair color can range from white to brown. People of African descent who have albinism may have skin that is light brown or red brown and have freckles. For some people, skin color may be nearly the same as that of parents or siblings without albinism.
With exposure to the sun, some people may develop:
For some people with albinism, skin coloring never changes. For others, melanin production may begin or increase during childhood and the teen years, resulting in slight changes in color.
Hair color can range from very white to brown. People of African or Asian descent who have albinism may have hair color that's yellow, red or brown. Hair color also may darken by early adulthood. Or hair may stain from contact with minerals in water and the environment, making hair appear darker with age.
Eyelashes and eyebrows are often pale. Eye color can range from very light blue to brown and may change with age.
With albinism, the colored parts of the eyes, called the irises, usually don't have enough pigment. This allows light to shine through the irises and makes the eyes extremely sensitive to bright light. Because of this, very light-colored eyes may appear red in some lighting.
Vision problems are a key feature of all types of albinism. Eye problems may include:
At your child's birth, the health care provider may notice a lack of color in hair or skin that affects the eyelashes and eyebrows. The provider will likely order an eye exam and closely follow any changes in your child's skin color and vision.
If you observe signs of albinism in your baby, talk to your health care provider.
Contact your health care provider if your child with albinism experiences frequent nosebleeds, easy bruising or long-term infections. These symptoms may suggest rare but serious hereditary conditions that include albinism.
Several genes give instructions for making one of several proteins involved in producing melanin. Melanin is made by cells called melanocytes that are found in your skin, hair and eyes.
Albinism is caused by a change in one of these genes. Different types of albinism can occur, based mainly on which gene change caused the disorder. The gene change may result in no melanin at all or a big decrease in the amount of melanin.
Types of albinism are grouped based on how they're passed down in families and on the gene that is affected.
To have an autosomal recessive disorder, you inherit two changed genes, sometimes called mutations. You get one from each parent. Their health is rarely affected because they have only one changed gene. Two carriers have a 25% chance of having an unaffected child with two unaffected genes. They have a 50% chance of having an unaffected child who also is a carrier. They have a 25% chance of having an affected child with two changed genes.
Albinism can include skin and eye complications. It also can include social and emotional challenges.
Problems with vision can impact learning, employment and the ability to drive.
People with albinism have skin that is very sensitive to light and sun. Sunburn is one of the most serious complications of albinism. Sun exposure can cause sun damage, which may result in rough and thickened skin. Sunburn also can increase the risk of developing skin cancer.
Because of the lack of skin pigment, a type of skin cancer called melanoma may appear as pink or red growths or moles, rather than the usual black or brown color. This can make skin cancer harder to identify at an early stage. Without careful and regular skin exams, melanoma may not be diagnosed until it's advanced.
Some people with albinism may experience discrimination. The reactions of other people to those with albinism can have a negative impact on people with the condition.
People with albinism may experience bullying, teasing or unwanted questions about their appearance, eyewear or visual aid tools. They may look different from members of their own families or ethnic groups, so they may feel like outsiders or be treated like outsiders. These experiences may cause social isolation, poor self-esteem and stress.
Using the term "person with albinism" is preferred to avoid the negative impact of other terms.
If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. The counselor can explain the available genetic tests.
Diagnosis of albinism is based on:
A specialist in vision and eye disorders called an ophthalmologist usually should do your child's eye exam. The exam includes an assessment using tools to look at the retina and determine if there are signs of problems with eye development or function.
Genetic testing can help determine the type of albinism and the risk of passing down the gene change to children.
Albinism is a genetic disorder, and there is currently no cure. Treatment focuses on getting proper eye care and monitoring skin for problems. Your care team may include your primary care provider, a specialist in eye care called an ophthalmologist and a specialist in skin care called a dermatologist.
A specialist in genetics can help identify the specific type of albinism. This information can help guide care, identify possible complications and determine the risk of the condition in future children.
Treatment usually includes:
People with Hermansky-Pudlak or Chediak-Higashi syndromes usually need regular specialized care for medical problems and to prevent complications.
You can help your child learn self-care practices that should continue into adulthood:
If your child has albinism, begin early to work with teachers and school leaders to find ways to help your child adapt to classroom learning. If necessary, start with educating the school staff about albinism and how it affects your child. Ask what services the school offers to assess and meet needs.
Changes to the classroom that may help include:
Many of these same changes can be made in the work setting. Consider educating supervisors and co-workers in the workplace to help them understand any needs.
Help your child develop skills to deal with other people's reactions to albinism. For example: