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Diseases

Genetic and Rare Diseases Information Center (GARD)

Albinism


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Overview

Albinism is a group of inherited disorders that results in little or no production of the pigment melanin, which determines the color of the skin, hair and eyes. Melanin also plays a role in the development of certain optical nerves, so all forms of albinism cause problems with the development and function of the eyes. Other symptoms can include light skin or changes in skin color; very white to brown hair; very light blue to brown eye color that may appear red in some light and may change with age; sensitivity to sun exposure; and increased risk of developing skin cancer.[1][2] Albinism is caused by mutations in one of several genes, and most types are inherited in an autosomal recessive manner.[1][3] Although there's no cure, people with the disorder can take steps to improve vision and avoid too much sun exposure.[1][2][3]
Last updated: 5/24/2016

References

  1. Albinism. Mayo Clinic. April 19, 2014; http://www.mayoclinic.org/diseases-conditions/albinism/basics/definition/con-20029935.
  2. Haldeman-Englert C, Zieve D. Albinism. MedlinePlus. October 27, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/001479.htm.
  3. Information Bulletin - What is Albinism?. NOAH. 2015; http://www.albinism.org/site/c.flKYIdOUIhJ4H/b.9253761/k.24EE/Information_Bulletin__What_is_Albinism.htm.
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Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. 
  • A Positive Exposure program called FRAME has an educational film about albinism that was created to change how medical information is presented to healthcare professionals. FRAME stands for Faces Redefining the Art of Medical Education. Positive Exposure is an organization that uses photography, film, and narrative to transform public perceptions of people living with genetic, physical, intellectual, and behavioral differences.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Albinism. Click on the link to view a sample search on this topic.
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.