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Diseases

Genetic and Rare Diseases Information Center (GARD)

Adult-onset vitelliform macular dystrophy


Other Names for this Disease
  • AVMD
  • Macular dystrophy, vitelliform, adult-onset
  • Vitelliform macular dystrophy, adult-onset
  • Foveomacular dystrophy, adult-onset; AOFMD
  • Foveomacular dystrophy, adult-onset, with choroidal neovascularization
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Adult-onset vitelliform macular dystrophy (AVMD) is an 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]Historically, AVMD has been characterized as a genetic disorder caused by mutations in the PRPH2BEST1, IMPG1, and IMPG2 genes; however, recent studies focused on genetic testing suggest that there may be other unidentified genes and/or environmental causes.[4][5]The majority of cases due to a mutation in the identified genes are inherited in an autosomal dominant manner; however not all individuals have AVMD have a family history and not all individuals who inherit a causative gene mutation develop symptoms.[2][1]
Last updated: 3/8/2016

References

  1. Vitelliform macular dystrophy. Genetics Home Reference. December 2013; http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy.
  2. Cassandra L. Kniffin. MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET. OMIM. 2/18/2015; http://omim.org/entry/608161.
  3. Do P, Ferrucci . Adult-onset foveomacular vitelliform dystrophy. Optometry. April 2006; 77(4):156-166.
  4. Liran Tiusano, Michelle Grunin, Shira Hagbi-Levi, Eyal Banin, Edward Averbukh, and Italy Chowers. Characterising the phenotype and progression of sporadic adult-onset foveomacular vitelliform dystrophy. British Journal of Opthalmology. January 22, 2016; 1-6. http://www.ncbi.nlm.nih.gov/pubmed/26802173.
  5. Itay Chowersa, Liran Tiosanoa, Isabelle Audoc, Michelle Grunina, Camiel J.F. Boon. Adult-onset foveomacular vitelliform dystrophy: A fresh perspective. Progress in Retinal and Eye Research. February 2015; 47:64-85. http://www.ncbi.nlm.nih.gov/pubmed/25681578.
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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 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 Adult-onset vitelliform macular dystrophy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • AVMD
  • Macular dystrophy, vitelliform, adult-onset
  • Vitelliform macular dystrophy, adult-onset
  • Foveomacular dystrophy, adult-onset; AOFMD
  • Foveomacular dystrophy, adult-onset, with choroidal neovascularization
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.