Gyrate atrophy of choroid and retina
Other Names for this Disease
- Ornithine aminotransferase deficiency
- Ornithine ketoacid aminotransferase deficiency
- Gyrate atrophy
- OAT deficiency
- OKT deficiency
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.
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