This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Gyrate atrophy of the choroid and retina is an inherited disorder of protein metabolism characterized by progressive vision loss. Symptoms such as nearsightedness (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 vision changes may lead to blindness by about the age of 50. While most people with gyrate atrophy of the choroid and retina 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. This condition is caused by mutations in the OAT gene and is inherited in an autosomal recessive manner. Treatment may include dietary supplements and/or a specialized diet.
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