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Ocular albinism type 1
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Overview
Ocular albinism type 1 is a genetic condition that primarily affects the eyes. Signs and symptoms may include reduced coloring (pigment) of the iris and retina, poor vision, poor depth perception, rapid, involuntary eye movements, eyes that do not look in the same direction (strabismus), and increased eye sensitivity to light. Type 1 is the most common form of ocular albinism and is found much more commonly in males. It is usually caused by mutations in the GPR143 gene which is found on the X chromosome.[1]
References
- Ocular albinism. Genetic Home Reference. http://ghr.nlm.nih.gov/condition=ocularalbinism. Accessed July 24, 2009.
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On this page
General Information
- Genetics Home Reference (GHR) contains information on Ocular albinism type 1. Click on the link to go to GHR and review the information.
- The National Eye Institute (NEI) provides more information on this topic. You can reach them by calling 301-496-5248 or by E-mail at 2020@nei.nih.gov
- 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.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Ocular albinism type 1. Click on the link to go to OMIM and review these resources.
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.