Albinism

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.

Skin

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:

• Freckles.
• Moles, with or without color, which are sometimes pink.
• Large freckle-like spots, called solar lentigines (len-TIJ-ih-neez).
• Sunburn and no ability to tan.

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

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.

Eye color

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

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

• Rapid, back-and-forth movement of the eyes that can't be controlled, called nystagmus.
• An uncommon head position or head posture, such as tilting the head to try to reduce eye movements and see better.
• Eyes that can't look at the same direction at the same time or they appear to be crossed, a condition called strabismus.
• Problems seeing near objects or far objects, called farsightedness or nearsightedness.
• Extreme sensitivity to light, called photophobia.
• A difference in the curve of the front surface of the eye or the lens inside the eye, called astigmatism, which causes blurred vision.
• Differences in the development of the thin layer of tissue on the inside back wall of the eye, called the retina. This difference results in reduced vision.
• Nerve signals from the retina to the brain that don't follow the usual nerve pathways in the eye. This is called misrouting of the optic nerve.
• Poor depth perception, which means not being able to see things in three dimensions and judge how far away an object is.
• Legal blindness — vision less than 20/200 — or complete blindness.

When to see a doctor

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

Types of albinism are grouped based on how they're passed down in families and on the gene that is affected.

• Oculocutaneous albinism (OCA), the most common type, means a person gets two copies of a changed gene — one from each parent. This is called autosomal recessive inheritance. OCA is the result of a change in one of eight genes, labeled from OCA1 to OCA8. OCA causes decreased pigment in the skin, hair and eyes, as well as vision problems. The amount of pigment varies by type. The resulting color of skin, hair and eyes also varies by and within types.
• Ocular albinism is mainly limited to the eyes, causing vision problems. The most common form of ocular albinism is type 1. This type is passed down by a gene change on the X chromosome. X-linked ocular albinism can be passed on by a mother who carries one changed X gene to her son. This is called X-linked recessive inheritance. Ocular albinism usually occurs only in males. It's much less common than OCA.
• Albinism related to rare hereditary syndromes can occur. For example, Hermansky-Pudlak syndrome includes a form of OCA, as well as bleeding and bruising problems and lung and bowel diseases. Chediak-Higashi syndrome includes a form of OCA, as well as immune problems with recurrent infections, problems with the brain and nerves, bleeding disorders, and other serious issues.

Risk factors depend on whether one or both parents carry an affected gene. Different types of albinism have different types of inheritance patterns.

Albinism can include skin and eye complications. It also can include social and emotional challenges.

Eye complications

Problems with vision can impact learning, employment and the ability to drive.

Skin complications

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.

Social and emotional challenges

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 physical exam that includes checking skin and hair pigmentation.
• A thorough eye exam.
• Comparison of your child's pigmentation to that of other family members.
• Review of your child's medical history, including whether there has been bleeding that doesn't stop, frequent or large bruises, or unexpected infections.

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:

• Eye care. This includes receiving an eye exam at least every year by an ophthalmologist. You'll likely need prescription lenses to help with visions problems. Although surgery is rarely part of treatment for eye problems related to albinism, your ophthalmologist may recommend surgery on eye muscles to reduce nystagmus. Surgery to correct strabismus may make the condition less noticeable.
• Skin care and prevention of skin cancer. This includes receiving a skin exam at least every year to screen for skin cancer or spots that can lead to cancer. An aggressive form of skin cancer called melanoma can appear as pink or red moles or growths. Moles or growths, with or without color — especially ones that are pink or red and keep changing — should be checked by a skin specialist right away.

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:

• Use low vision aids, such as a hand-held magnifying glass, a telescope or a magnifier that attaches to glasses. Another aid is a tablet connected to a digital whiteboard in the classroom. This is an interactive electronic board with a touch screen.
• Always use sunscreen with a sun protection factor (SPF) of 30 or greater that protects against both UVA and UVB light.
• Strictly avoid high-risk or lengthy sun exposure. Examples include being outside for long periods of time or in the middle of the day, at high altitudes, on or near water, and on sunny days with thin cloud cover.
• Wear protective clothing, including clothes with color. Examples include long-sleeve, collared shirts, long pants and socks; broad-brimmed hats; and special UV-protection clothing.
• Protect eyes by wearing dark, UV-blocking sunglasses. Another option is transition lenses called photochromic lenses, which darken in bright light.

Making school or work changes

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:

• A seat near the front of the classroom.
• Large-print textbooks or a tablet computer.
• A tablet computer that can be synced to an interactive whiteboard at the front of the room, if your child wants to sit farther back in the classroom.
• Handouts of the content written on boards or overhead screens.
• High-contrast printed documents, such as black type on white paper, rather than using colored print or paper.
• Making the font size bigger on a computer screen.
• Avoiding bright light.
• Allowing extra time for taking tests or reading material.

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.

Coping with emotional and social issues

Help your child develop skills to deal with other people's reactions to albinism. For example:

• Encourage your child to talk to you about experiences and feelings.
• Practice responses to teasing or embarrassing questions.
• Find a peer support group or online community through agencies such as the National Organization for Albinism and Hypopigmentation (NOAH).
• Talk to a mental health professional who can help you and your child develop healthy communication and coping skills, if needed.