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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.
Source: GARD Last updated on 05-01-20
While we are not aware of a guide or Web sites that can help you develop your diet plan, you may find the following resources to be helpful.
The United States Department of Agriculture (USDA) has a document titled "USDA National Nutrient Database for Standard Reference, Release 21: Content of Selected Protein Foods per Common Measure, sorted alphabetically" that lists the protein content of common foods.
In addition, the amino acid values for common foods are also available in the USDA's National Nutrient Database for Standard Reference. This searchable database is available for download to a PC or handheld device and is also available online by clickong on the right side box from the USDA homepage "I Want To...Look up Calories or Nurtients in Food." Searching online does not allow searches by nutrient, only by food items. However, if you download the full version from the SR21-Download Files page, you may query by nutrients through Microsoft Assess or ASCII programs. Click on the embedded link above to download the file.
Also, the Food and Agriculture Organization (FAO) has a publication titled "Amino-Acid Content of Foods and Biological Data on Proteins" which has an extensive list of foods and their amino acid values.
You may find it helpful to contact your local genetic clinic to set up a consultation with a genetics professional, if you have not already done so. Genetic professionals are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. Some genetic clinics have nutritionists on staff to help with the dietary management of people with genetic disease. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.
The following online resources can also help you find a genetics professional in your community:
GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
Last updated on 05-01-20
The Section on Ophthalmic Clinical Genetics research group at the National Eye Institute has been a leader in studying gyrate atrophy of the choroid and retina and nephropathic cystinosis. You can read more about this group by clicking on the link above.
Last updated on 04-27-20
The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
Last updated on 04-27-20
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