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Gyrate atrophy of choroid and retina


Title




Other Names:
Ornithine aminotransferase deficiency; Ornithine ketoacid aminotransferase deficiency; Gyrate atrophy; Ornithine aminotransferase deficiency; Ornithine ketoacid aminotransferase deficiency; Gyrate atrophy; OAT deficiency; OKT deficiency; Hyperornithinemia with gyrate atrophy of choroid and retina; HOGA; Girate atrophy of the retina; Hyperornithinemia; Hyperornithinemia-gyrate atrophy of choroid and retina syndrome; Fuchs atrophia gyrata chorioideae et retinae See More
Categories:
Congenital and Genetic Diseases; Eye diseases; Metabolic disorders; Congenital and Genetic Diseases; Eye diseases; Metabolic disorders; Nervous System Diseases; Newborn Screening See More

Summary Summary


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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.[1] Treatment may include dietary supplements and/or a specialized diet.[2]

Last updated: 1/9/2017

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 20 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Chorioretinal atrophy 0000533
Hyperornithinemia
High blood ornithine levels
0012026
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
0000545
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ]
0000529
30%-79% of people have these symptoms
Abnormal macular morphology 0001103
Aminoaciduria
High urine amino acid levels
Increased levels of animo acids in urine
[ more ]
0003355
Blindness 0000618
Chorioretinal hyperpigmentation 0040031
Constriction of peripheral visual field
Limited peripheral vision
0001133
Progressive night blindness 0007675
Subcapsular cataract 0000523
5%-29% of people have these symptoms
Abnormal hair morphology
Abnormality of the hair
Hair abnormality
[ more ]
0001595
Hearing impairment
Deafness
Hearing defect
[ more ]
0000365
Seizure 0001250
Percent of people who have these symptoms is not available through HPO
Abnormality of metabolism/homeostasis
Laboratory abnormality
Metabolism abnormality
[ more ]
0001939
Autosomal recessive inheritance 0000007
EMG abnormality 0003457
Nyctalopia
Night blindness
Night-blindness
Poor night vision
[ more ]
0000662
Posterior subcapsular cataract 0007787
Proximal muscle weakness
Weakness in muscles of upper arms and upper legs
0003701
Showing of 20 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.

Newborn Screening

  • 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.

Treatment Treatment


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The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • GeneReviews provides a current, expert-authored, peer-reviewed, full-text article urea cycle disorders in general that you may find helpful. GeneReview articles describe the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.
  • American Dietetic Association
    120 South Riverside Plaza, Suite 2000
    Chicago, IL 60606-6995
    Toll-free: 800-366-1655
    E-mail: knowledge@eatright.org
    Website: http://www.eatright.org/Public/

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Careful fundoscopy, fundus autofluorescence images and pointed family history help to delimit autosomal recessive GACR from X-chromosomal choroideremia. At the slightest suspicion of GACR, serum ornithine levels should be measured to detect hyperornithinemia.
Visit the Orphanet disease page for more information.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Gyrate atrophy of choroid and retina. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • 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.
  • Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition. 

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Metabolic Support UK
    5 Hilliards Court
    Sandpiper Way
    Chester Business Park
    Chester, CH4 9QP United Kingdom
    Toll-free: 0800 652 3181
    Telephone: 0845 241 2173
    E-mail: https://www.metabolicsupportuk.org/contact-us
    Website: https://www.metabolicsupportuk.org
  • National Urea Cycle Disorders Foundation
    75 South Grand Avenue
    Pasadena, CA 91105
    Toll-free: 800-38-NUDCF (386-8233)
    Telephone: +1-626-578-0833
    E-mail: info@nucdf.org
    Website: http://www.nucdf.org

Organizations Providing General Support

  • Retina International
    Suite 108, Camden Business Centre
    12 Camden Row
    Dublin 8
    Ireland
    Telephone: +353 1 472 0468
    E-mail: avril.daly@retina-International.org
    Website: https://www.retina-international.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • 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.
  • Genetics Home Reference (GHR) contains information on Gyrate atrophy of choroid and retina. This website is maintained by the National Library of Medicine.
  • 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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • 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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Is there a Web site or diet guide that can help me plan a diet that is low in protein, low in arginine, and high in lysine? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. 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.
  2. Saudubray JM. Gyrate atrophy of choroid and retina. Orphanet. May 2015; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=414.
Do you know of a review article? We want to hear from you.
You can help advance
rare disease research!
You can help advance rare disease research!
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