Diseases & Conditions

Albinism

Albinism, a group of inherited disorders, results in little or no production of the pigment melanin. The type and amount of melanin your body produces determines the color of your skin, hair and eyes. Most people with albinism are sensitive to sun exposure and are at increased risk of developing skin cancer.

Melanin also plays a role in the development of certain optical nerves. All forms of albinism cause problems with the development and function of your eyes.

Although there's no cure for albinism, people with the disorder can take steps to improve vision and avoid too much sun exposure. Albinism doesn't limit intellectual development, though people with albinism often feel socially isolated and may experience discrimination.

Signs and symptoms of albinism are usually, but not always, apparent in a person's skin, hair and eye color. Regardless of the effect of albinism on appearance, all people with the disorder experience vision impairments.

Skin
Although the most recognizable form of albinism results in milky white skin, skin pigmentation can range from white to nearly the same as parents or siblings without albinism.

For some people with albinism, skin pigmentation never changes. For others, melanin production may begin or increase during childhood and adolescence, resulting in slight changes in pigmentation. With exposure to the sun, some people may develop:

• Freckles
• Moles, with or without pigment
• Large freckle-like spots (lentigines)
• The ability to tan

Hair
Hair color can range from very white to brown. People of African or Asian descent who have albinism may have hair color that is yellow, reddish or brown. Hair color may also change by early adulthood.

Eye color
Eye color can range from very light blue to brown and may change with age.

The lack of pigment in the colored part of your eyes (irises) makes them somewhat translucent. This means that the irises can't completely block light from entering the eye. Because of this translucence, very light-colored eyes may appear red in some lighting. This occurs because you're seeing light reflected off the back of the eye and passing back out through the iris again — similar to red eye that occurs in a flash photograph.

Vision
Signs and symptoms of albinism related to eye function include:

• Rapid, involuntary back-and-forth movement of the eyes (nystagmus)
• Inability of both eyes to stay directed at the same point or to move in unison (strabismus)
• Extreme nearsightedness or farsightedness
• Sensitivity to light (photophobia)
• Astigmatism

When to see a doctor
If your child lacks pigment in his or her hair or skin at birth — as is often the case in infants with albinism — your doctor will order an eye examination and closely follow any changes in your child's pigmentation.

For some infants the first sign of albinism is a rapid back-and-forth shifting (nystagmus) in the eyes, particularly if the type of albinism has little effect on pigmentation or if your family is mostly fair. If you observe nystagmus in your child's eyes, talk to your doctor.

Contact your doctor if your child with albinism experiences frequent nosebleeds, easy bruising or chronic infections, as these signs and symptoms may indicate the presence of Hermansky-Pudlak or Chediak-Higashi syndromes.

A complete diagnostic workup for albinism will include a physical examination, a description of changes in pigmentation, a pigment history and a thorough examination of the eyes.

A pigment history includes a comparison of your child's pigmentation to that of other family members to determine if your child's is lighter. Your doctor may also ask you about any changes you may have observed in your child's hair, skin or eye color.

A medical doctor specializing in vision and eye disorders (ophthalmologist) will conduct your child's eye exam. The exam will include an assessment of potential nystagmus, strabismus and photophobia. The doctor will also use a device to visually inspect the retina and determine if there are signs of abnormal development. A test called an electroretinogram, which measures brain waves produced when light is shined into the eyes, can indicate the presence of misrouted optical nerves.

If your child has only one eye impairment, such as nystagmus, another condition may be the cause. Disorders other than albinism may affect skin pigmentation, but these wouldn't cause all of the visual problems associated with albinism.

Complications of albinism include physical risks as well as social and emotional challenges.

Skin disorders
One of the most serious complications associated with albinism is the risk of sunburn and skin cancer. Long-term exposure to the sun may also cause skin to become coarse, rough and thick (pachyderma).

Social and emotional factors
The reactions of other people to those with albinism can often have a negative impact on people with the condition:

• Children with albinism often experience name-calling, teasing or questions regarding their appearance, eyewear or visual aid devices.
• Many people with albinism find the word "albino" hurtful because they're being labeled simply on the basis of a condition rather than being thought of as individuals.
• A long history of myths has attributed supernatural powers or deviant personalities to people with albinism.
• People with albinism usually look very different from members of their own families or ethnic groups and, therefore, may either feel like outsiders or be treated like outsiders.

All of these factors may contribute to social isolation, poor self-esteem and stress.

Because albinism is a genetic disorder, interventions to treat people with albinism are limited. Your child will most likely need to wear prescription lenses, which provide improvements in vision, and he or she should receive annual examinations by an ophthalmologist.

Although surgery is rarely part of treatment for albinism, your ophthalmologist may recommend surgery on optical muscles that minimizes nystagmus. Surgery to correct strabismus may make the condition less noticeable, but it won't improve vision.

Your doctor will also conduct an annual assessment of your child's skin to screen for skin cancer or lesions that can lead to cancer. Adults with albinism need annual eye and skin exams throughout their lives.

People with Hermansky-Pudlak and Chediak-Higashi syndromes usually require regular specialized care to prevent complications.