Signs 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 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 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 the 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 the family is mostly fair-skinned. 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.

Apr. 02, 2011