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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • RIEG1
  • RIEG
  • RGS
  • Rieger syndrome type 1
Home > Rare Diseases and Related Terms > Axenfeld-Rieger syndrome type 1



Axenfeld-Rieger syndrome type 1
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Axenfeld-Rieger syndrome refers to a spectrum of developmental eye disorders. Common eye symptoms include cornea defects, iris defects, and glaucoma. About 50% of affected individuals become blind from glaucoma. Other associated developmental defects commonly involve the teeth and facial bones. [1][2][3][4][5]. Click here to view a diagram of the eye.

There are three types of Axenfeld-Rieger syndrome, which are distinguished by their genetic cause. Axenfeld-Rieger syndrome type 1 is caused by mutations in the PITX2 gene and Axenfeld-Rieger syndrome type 3 is caused by mutations in the FOXC1 gene.[5][6] The gene that causes Axenfeld-Rieger syndrome type 2 has not yet been identified, but it is located on chromosome 13.[7] Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance.[5][6][7]


References
  1. JD Brandt. Yanoff: Ophthalmology, 2nd ed.. In: . Congenital glaucoma. St. Louis, MO:Mosby, Inc; 2004:
  2. Traboulsi EI. Malformations of the anterior segment of the eye. In: Traboulsi EI, ed. Genetic Diseases of the Eye. New York, NY. Oxford Publishing Press, Inc.; 1998:81-88.
  3. Traboulsi EI. A Compendium of Inherited Disorders and the Eye. New York, NY: Oxford University Press, Inc; 2006: 22-25.
  4. Inci Irak-Dersu. Glaucoma, Secondary Congenital. eMedicine. 2010 Available at: http://www.emedicine.com/oph/topic141.htm. Accessed April 11, 2011.
  5. Axenfeld-Rieger syndrome type 1. Online Mendelian Inheritance in Man (OMIM). Available at: http://www.ncbi.nlm.nih.gov/omim/180500. Accessed April 11, 2011.
  6. Axenfeld-Rieger syndrome type 3. Online Mendelian Inheritance in Man (OMIM). Available at: http://www.ncbi.nlm.nih.gov/omim/602482 . Accessed April 11, 2011.
  7. Axenfeld-Rieger syndrome type 2. Online Mendelian Inheritance in Man (OMIM). Available at: http://www.ncbi.nlm.nih.gov/omim/601499. Accessed April 11, 2011.
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A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
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More Detailed Information (Found 7 resources)
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Organizations (Found 9 resources)
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    • International Glaucoma Association
      Woodcote House
      15 Highpoint Business Village
      Henwood
      Ashford
      Kent TN24 3DH
      Telephone: (044) 1233 64 81 70
      Fax: (044) 1233 64 81 79
      E-mail: info@iga.org.uk
      Web site:  http://www.iga.org.uk 
    • National Association for Parents of Children with Visual Impairments (NAPVI)
      P.O. Box 317
      Watertown, MA 02471
      Toll-free: 1-800-562-6265
      Telephone: 1-617-972-7441
      Fax: 1-617-972-7444
      E-mail: napvi@perkins.org
      Web site: http://www.spedex.com/napvi/
    • Glaucoma Research Foundation
      251 Post Street, Suite 600
      San Francisco, CA 94108
      Toll-free: 1-800-826-6693
      Telephone: 415-986-3162 
      Fax: 415-986-3763
      E-mail: question@glaucoma.org
      Web site:  http://www.glaucoma.org
    • Children's Glaucoma Foundation
      2 Longfellow Place
      Suite 201
      Boston, MA 02114
      Telephone: 617-227-3011 
      Web site:  http://www.childrensglaucoma.com
  • Organizations Providing General Support

  • Social Networking Websites

    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.
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    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
    • 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.
  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 
Scientific Conferences (Found 2 resources)
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  • Past Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
 
Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials. Disclaimer

    • GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition.
    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.

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