Albinism
Symptoms
Signs and symptoms of albinism involve skin, hair, and eye color and vision.
Skin
The most recognizable form of albinism results in white hair and very light-colored skin compared with siblings. Skin coloring (pigmentation) and hair color can range from white to brown, and 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 pigment — moles without pigment are generally pink-colored
- Large freckle-like spots (lentigines)
- Sunburn and the inability to tan
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.
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 or stain from exposure to normal minerals in water and the environment, and 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.
The lack of pigment in the colored part of the eyes (irises) makes the irises 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.
Vision
Vision impairment is a key feature of all types of albinism. Eye problems and issues may include:
- Rapid, involuntary back-and-forth movement of the eyes (nystagmus)
- Head movements, such as bobbing or tilting the head, to try to reduce the involuntary eye movements and see better
- 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 the eye or the lens inside the eye (astigmatism), which causes blurred vision
- Abnormal development of the retina, resulting in reduced vision
- Nerve signals from the retina to the brain that don't follow the usual nerve pathways (misrouting of the optic nerve)
- Poor depth perception
- Legal blindness (vision less than 20/200) or complete blindness
When to see a doctor
At your child's birth, if the doctor notices a lack of pigment in hair or skin that affects the eyelashes and eyebrows, the doctor will likely order an eye exam and closely follow any changes in your child's pigmentation and vision.
If you observe signs of albinism in your baby, talk to your doctor.
Contact your doctor if your child with albinism experiences frequent nosebleeds, easy bruising or chronic infections. These signs and symptoms may indicate the presence of Hermansky-Pudlak syndrome or Chediak-Higashi syndrome, which are rare but serious disorders that include albinism.