Ocular albinism type 1
Other Names for this Disease
- Nettleship-Falls type ocular albinism
- X-linked recessive ocular albinism
- X-linked ocular albinism
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nystagmus); poor vision; poor depth perception; eyes that do not look in the same direction (strabismus); and increased sensitivity to light. It is caused by mutations in the GPR143 gene and is inherited in an X-linked recessive manner. 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 head posture that is associated with nystagmus.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 (underdevelopment); rapid, involuntary eye movements (
Last updated: 8/6/2015
- Ocular albinism. Genetics Home Reference. 2007; http://ghr.nlm.nih.gov/condition=ocularalbinism. Accessed 7/24/2009.
- 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.
- 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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.
- Online Mendelian Inheritance in Man (OMIM) is a 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.
- 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.