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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • AVMD
  • Macular dystrophy, vitelliform, adult-onset
  • Vitelliform macular dystrophy, adult-onset
  • Foveomacular dystrophy, adult-onset; AOFMD
  • Foveomacular dystrophy, adult-onset, with choroidal neovascularization
  • Adult-onset foveomacular vitelliform dystrophy
Home > Rare Diseases and Related Terms > Adult-onset vitelliform macular dystrophy



Adult-onset vitelliform macular dystrophy
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Adult-onset vitelliform macular dystrophy (AVMD) is a genetic eye disorder that can cause progressive vision loss. AVMD affects an area of the retina called the macula, which is responsible for sharp central vision. The condition causes a fatty yellow pigment to accumulate in cells underlying the macula, eventually damaging the cells.[2] Signs and symptoms usually begin between ages 30 and 50 and include blurred and/or distorted vision, often progressing to central vision loss over time.[3][1][2] It is caused by mutations in the PRPH2 or BEST1 genes; other unidentified genes may cause AVMD as well. It is thought to be inherited in an autosomal dominant manner, although not all individuals who inherit the mutated gene develop symptoms.[3][2]


References
  1. Do P, Ferrucci . Adult-onset foveomacular vitelliform dystrophy. Optometry. April 2006;77(4):156-166;
  2. Vitelliform macular dystrophy. Genetics Home Reference. October 2008 Available at: http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy. Accessed September 4, 2012.
  3. Cassandra L. Kniffin. MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET. OMIM. December 13, 2006 Available at: http://omim.org/entry/608161. Accessed September 4, 2012.
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Questions & Answers (Found 1 Question)
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.
For more information about Adult-onset vitelliform macular dystrophy click on the boxes below:
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More Detailed Information (Found 4 resources)
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  • General

    • Genetics Home Reference (GHR) contains information on Adult-onset vitelliform macular dystrophy. Click on the link to go to GHR and review the information.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Adult-onset vitelliform macular dystrophy. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Adult-onset vitelliform macular dystrophy. Click on the link to view a sample search on this topic.
 Organizations Providing General Support | Social Networking Websites
Organizations (Found 13 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer



  • 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.
 Testing | Parent Resources
Services (Found 4 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer

    • 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.
    • Orphanet lists international laboratories offering diagnostic testing for this condition. Click here and scroll down the page to learn more about the processes of certification, accreditation, and external quality assessment available to these labs. Click on Orphanet to view the list.
  • 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 1 resource)
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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.
 
Clinical Trials & Research (Found 3 resources)
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    • 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.
    • Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.
  • 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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