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  3. Choroideremia
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Choroideremia


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Other Names:
CHM; Progressive tapetochoroidal dystrophy; TCD
Categories:
Congenital and Genetic Diseases; Eye diseases

Summary Summary


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Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (night blindness), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the ability to see details (visual acuity). The vision problems are due to loss of cells in the retina (light sensitive part of the eye) and choroid (blood vessels in the eye). The vision issues tend to get worse over time and usually lead to blindness in late adulthood. The rate and degree of vision loss differs for each person. Choroideremia is caused by spelling mistakes (mutations) in the CHM gene and is inherited in an X-linked recessive pattern.[1][2]
Last updated: 1/13/2016

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 11 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal electroretinogram 0000512
Abnormality of retinal pigmentation 0007703
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
0000545
Nyctalopia
Night blindness
Night-blindness
Poor night vision
[ more ]
0000662
30%-79% of people have these symptoms
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
Percent of people who have these symptoms is not available through HPO
Chorioretinal atrophy 0000533
Chorioretinal degeneration 0200065
Choroideremia 0001139
Constriction of peripheral visual field
Limited peripheral vision
0001133
X-linked dominant inheritance 0001423
X-linked inheritance 0001417
Showing of 11 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
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.

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 Genetics Home Reference.

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
Differential diagnosis includes retinitis pigmentosa (RP), Usher syndrome type 1, and gyrate atrophy of the choroid and retina (see these terms). X-linked RP is distinguished from CHM by the migration of pigment into the retina. Moreover, choriocapilar and retinal atrophy, leaving areas of bare sclera is only present in CHM. Usher syndrome type 1 is distinguished from CHM by the scalloped areas of significant chorioretinal degeneration that are only typical of CHM. Also, profound deafness and vestibular problems are very rare in CHM cases. Gyrate atrophy is distinguished from CHM by elevated plasma concentration of ornithine.
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 Choroideremia. 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.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Choroideremia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Choroideremia:
    My Retina Tracker®
     

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

  • Choroideremia Research Foundation Canada, Inc.
    16 Candlewood Drive
    Brantford, ON N3R 6A1
    Canada
    Telephone: 519-758-0847
    Fax: 519-758-0448
    E-mail: info@choroideremia.ca
    Website: http://www.choroideremia.ca/
  • Choroideremia Research Foundation, Inc.
    23 East Brundreth Street
    Springfield, MA 01109-2110
    Toll-free: 1-800-210-0233
    E-mail: info@curechm.org
    Website: https://curechm.org/
  • Foundation Fighting Blindness
    7168 Columbia Gateway Drive, Suite 100
    Columbia, MD 21046
    Toll-free: 1-800-683-5555
    Telephone: +1-410-423-0600
    TTY: 1-800-683-5551
    E-mail: info@fightblindness.org
    Website: https://www.fightingblindness.org/
  • National Federation of the Blind
    200 East Wells Street at Jernigan Place
    Baltimore, MD 21230
    Telephone: 410-659-9314
    Fax: 410-685-5653
    E-mail: pmaurer@nfb.org
    Website: http://www.nfb.org/
  • Prevent Blindness America
    211 West Wacker Drive, Suite 1700
    Chicago, IL 60606
    Toll-free: 800-331-2020
    E-mail: info@preventblindness.org
    Website: http://www.preventblindness.org/
  • Royal National Institute of Blind People
    RNIB Headquarters
    105 Judd Street
    London
    WC1H 9NE
    United Kingdom
    Telephone: 0303 123 9999
    E-mail: helpline@rnib.org.uk
    Website: http://www.rnib.org.uk/Pages/Home.aspx

Organizations Providing General Support

  • American Foundation for the Blind
    1401 South Clark Street
    Suite 730
    Arlington, VA 22202
    Toll-free: 800-232-5463
    Telephone: 212-502-7600
    E-mail: info@aph.org
    Website: https://www.afb.org/
  • 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

  • Choroideremia Research Foundation offers an information page on Choroideremia. Please click the link to access this resource.
  • The Foundation Fighting Blindness has a Web page on choroideremia. Click on the link to view this information.
  • Genetics Home Reference (GHR) contains information on Choroideremia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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.
    Orphanet
    Orphanet
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Choroideremia. 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.

Have a question? Contact a GARD Information Specialist.

References References


  1. Choroideremia. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/choroideremia. Accessed 4/22/2011.
  2. Choroideremia. National Organization for Rare Disorders (NORD): https://rarediseases.org/rare-diseases/choroideremia/.
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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