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Symptoms
By Mayo Clinic staffSigns 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.
- Hornyak TJ. Albinism and other genetic disorders of pigmentation. In: Wolff K, et al. Fitzpatrick's Dermatology in General Medicine. 7th ed. New York, N.Y.: McGraw-Hill Professional; 2007. http://www.accessmedicine.com/content.aspx?aID=2959771. Accessed Feb. 23, 2009.
- Wolff K, et al. Pigmentary disorders. In: Wolff K, et al. Fitzpatrick's Color Atlas & Synopsis of Clinical Dermatology. 5th ed. New York, N.Y.: McGraw-Hill Professional; 2005. http://www.accessmedicine.com/content.aspx?aID=751347. Accessed Feb. 23, 2009.
- Oculocutaneous albinism. Genetics Home Reference. http://ghr.nlm.nih.gov/condition=oculocutaneousalbinism. Accessed Feb. 23, 2009.
- Albinism. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec10/ch123/ch123b.html. Accessed Feb. 25, 2009.
- King RA, et al. Oculocutaneous albinism type 1. Gene Reviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oca1. Accessed Feb. 25, 2009.
- King RA, et al. Oculocutaneous albinism type 2. Gene Reviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oca2. Accessed Feb. 25, 2009.
- TYRP1. Genetics Home Reference. http://ghr.nlm.nih.gov/gene=tyrp1. Accessed Feb. 25, 2009.
- Brilliant MH. Oculocutaneous albinism type 4. Gene Reviews. http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oca4. Accessed Feb. 25, 2009.
- What is albinism? National Organization for Albinism and Hypopigmentation (NOAH). http://www.albinism.org/publications/what_is_albinism.html. Accessed Feb. 23, 2009.
- LYST. Genetics Home Reference. http://ghr.nlm.nih.gov/gene=lyst. Accessed Feb. 25, 2009.
- Albinism. American Association for Pediatric Ophthalmology and Strabismus. http://www.aapos.org/displaycommon.cfm?an=1&subarticlenbr=62. Accessed March 5, 2009.
