Rare Pediatrics News

Disease Profile

Gyrate atrophy of choroid and retina

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Childhood

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ICD-10

E72.4

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Ornithine aminotransferase deficiency; Ornithine ketoacid aminotransferase deficiency; Gyrate atrophy;

Categories

Congenital and Genetic Diseases; Eye diseases; Metabolic disorders;

Summary

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]

Symptoms

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.

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

Diagnosis

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

      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.

        Organizations

        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

          Organizations Providing General Support

            Learn more

            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.

                References

                1. Gyrate atrophy of the choroid and retina. Genetics Home Reference (GHR). August 2009; https://ghr.nlm.nih.gov/condition/gyrate-atrophy-of-the-choroid-and-retina.
                2. Saudubray JM. Gyrate atrophy of choroid and retina. Orphanet. May 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=414.