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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Ocular albinism type 1


Other Names for this Disease
  • Nettleship-Falls type ocular albinism
  • OA1
  • X-linked ocular albinism
  • X-linked recessive ocular albinism
  • XLOA
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Overview


Ocular albinism type 1 (OA1) is a genetic eye condition that primarily affects males. Signs and symptoms may include reduced coloring of the iris and retina (ocular hypopigmentation); foveal hypoplasia; rapid, involuntary eye movements (nystagmus); poor vision; poor depth perception; eyes that do not look in the same direction (strabismus); and increased sensitivity to light.[1][2] It is caused by mutations in the GPR143 gene and is inherited in an X-linked recessive manner.[1][2] Females have been affected in rare instances. Treatment consists of visual correction with eyeglasses or contact lenses; use of sunglasses or special filter glasses for light sensitivity; and in some cases, extraocular muscle surgery to restore alignment and/or improve a head posture that is associated with nystagmus.[2]
Last updated: 6/27/2013

References

  1. Ocular albinism. Genetics Home Reference. 2007; http://ghr.nlm.nih.gov/condition=ocularalbinism. Accessed 7/24/2009.
  2. Gail Summers. X-linked recessive ocular albinism. Orphanet. April 2013; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=54. Accessed 6/27/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Ocular albinism type 1. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • The New York Eye and Ear Infirmary Web site has an information page on this topic. Click on the link above to view the information page.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ocular albinism type 1. Click on the link to view a sample search on this topic.

Diagrams/Images

  • A diagram of the eye can be found by visiting MedlinePlus, the National Library of Medicine Web site designed to help you research your health questions. Click on MedlinePlus to view the diagram.