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Genetic and Rare Diseases Information Center (GARD)

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Adult-onset vitelliform macular dystrophy


Other Names for this Disease

  • Adult-onset foveomacular vitelliform dystrophy
  • AVMD
  • Foveomacular dystrophy, adult-onset, with choroidal neovascularization
  • Foveomacular dystrophy, adult-onset; AOFMD
  • Macular dystrophy, vitelliform, adult-onset
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Overview

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.[1] Signs and symptoms usually begin between ages 30 and 50 and include blurred and/or distorted vision, which can progress to central vision loss over time.[2][3][1] 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.[2][1]
Last updated: 10/3/2013

References

  1. Vitelliform macular dystrophy. Genetics Home Reference. October 2008; http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy. Accessed 9/4/2012.
  2. Cassandra L. Kniffin. MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET. OMIM. December 13, 2006; http://omim.org/entry/608161. Accessed 9/4/2012.
  3. Do P, Ferrucci . Adult-onset foveomacular vitelliform dystrophy. Optometry. April 2006; 77(4):156-166.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Adult-onset vitelliform macular dystrophy. This website is maintained by the National Library of Medicine.

In Depth Information

  • The 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 Adult-onset vitelliform macular dystrophy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Adult-onset foveomacular vitelliform dystrophy
  • AVMD
  • Foveomacular dystrophy, adult-onset, with choroidal neovascularization
  • Foveomacular dystrophy, adult-onset; AOFMD
  • Macular dystrophy, vitelliform, adult-onset
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.