Print friendly version
Gyrate atrophy of choroid and retina
Other Names for this Disease
- Girate atrophy of the retina
- Gyrate atrophy
- Hyperornithinemia with gyrate atrophy of choroid and retina
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision develop during childhood. Over time, the field of vision progressively narrows, resulting in tunnel vision. Cataracts may also develop. These progressive vision changes lead to blindness by about the age of 50. While most people with gyrate atrophy have no symptoms other than vision loss, neonatal hyperammonemia (excess ammonia in the blood in the newborn period), neurological abnormalities, intellectual disability, peripheral nerve problems, and muscle weakness may occur. Gyrate atrophy is caused by mutations in the OAT gene. This condition is inherited in an autosomal recessive manner. Treatment may include dietary supplements and/or a specialized diet.Gyrate atrophy of the choroid and retina is an inherited disorder characterized by progressive vision loss. Symptoms such as nearsightedness (
Last updated: 12/13/2012
- Gyrate atrophy of the choroid and retina. Genetics Home Reference (GHR). August 2009; http://ghr.nlm.nih.gov/condition/gyrate-atrophy-of-the-choroid-and-retina. Accessed 12/13/2012.
- Saudubray JM. Gyrate atrophy of choroid and retina. Orphanet. 2004; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=414. Accessed 12/13/2012.
- Genetics Home Reference (GHR) contains information on Gyrate atrophy of choroid and retina. This website is maintained by the National Library of Medicine.
- MedlinePlus.gov provides more information on urea cycle disorders in general. MedlinePlus is a Web site designed by the National Library of Medicine to help you research your health questions.
- The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on this topic.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Gyrate atrophy of choroid and retina. Click on the link to go to OMIM and review these resources.
- 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 Gyrate atrophy of choroid and retina. Click on the link to view a sample search on this topic.