ALBINISM - Watsons Health

ALBINISM

Albinism includes a group of inherited disorders that are characterized by 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.

Although there’s no cure for albinism, people with the disorder can take steps to protect their skin and maximize their vision. Some people with albinism may feel socially isolated or experience discrimination.

Albinism is caused by a mutation in one of several genes. Each of these genes provides instructions for making one of several proteins involved in the production of melanin. Melanin is produced by cells called melanocytes, which are found in your skin and eyes. A mutation may result in no melanin at all or a significant decline in the amount of melanin.

In some types of albinism, a person must inherit two copies of a mutated gene — one from each parent — in order to have albinism (recessive inheritance).

Signs of albinism are usually, but not always, apparent in a person’s skin, hair and eye color. However, all people with the disorder experience vision problems.

Skin

Although the most recognizable form of albinism results in white hair and pinkish skin, skin coloring (pigmentation) can range from white to brown, and may be nearly the same as that of 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 the teen years, resulting in slight changes in pigmentation. With exposure to the sun, some people may develop:

  • Freckles
  • Moles, with or without pigment — moles without pigment are generally pink-colored
  • 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’s yellow, reddish or brown. Hair color may also darken 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 the eyes (irises) makes them somewhat translucent. This means that the irises can’t completely block light from entering the eye. Because of this, 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 the red-eye that occurs in a flash photo.

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)
  • Abnormal curvature of the front surface of your eye or the lens inside your eye (astigmatism), which causes blurred vision

DIAGNOSIS

A complete diagnostic work-up for albinism includes a:

  • Physical exam
  • Description of changes in pigmentation
  • Thorough exam of the eyes
  • Comparison of your child’s pigmentation to that of other family members

A medical doctor specializing in vision and eye disorders (ophthalmologist) should 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 simple test can measure the brain waves produced when light or a reversing pattern is flashed into each eye. This 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 can affect skin pigmentation, but these don’t cause all of the visual problems associated with albinism.

 

TREATMENT

Because albinism is a genetic disorder, treatment is limited. But getting proper eye care and monitoring skin for signs of abnormalities are especially important to your child’s health.

Your child will most likely need to wear prescription lenses, and he or she should receive annual eye exams by an ophthalmologist. Although surgery is rarely part of treatment for albinism, your ophthalmologist may recommend surgery on optical muscles to minimize nystagmus. Surgery to correct strabismus may make the condition less noticeable, but it won’t improve vision.

Your doctor should 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.

Lifestyle and home remedies

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 monocular or a magnifier that attaches to glasses.
  • Apply sunscreen with a sun protection factor (SPF) of at least 30 that protects against both UVA and UVB light.
  • Avoid high-risk sun exposure, such as being outside in the middle of the day, at high altitudes, and on sunny days with thin cloud cover.
  • Wear protective clothing, including long-sleeved shirts, long pants and broad-rimmed hats.
  • Protect eyes by wearing dark, UV-blocking sunglasses or transition lenses that darken in bright light.

Related Articles

WOLF-PARKINSON-WHITE SYNDROME

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Wolf-Parkinson-White Syndrome, or WPW Syndrome, is a health condition present at [...]

RETINITIS PIGMENTOSA

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Retinitis Pigmentosa is considered as a group of eye diseases that [...]

PORPHYRIA

Overview and FactsTypes and SymptomsDiagnosis & MedicationsOverview and Facts Porphyria is also known as Hematoporphyria or porphyrin disorder, a type [...]