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Diseases

Genetic and Rare Diseases Information Center (GARD)

Best vitelliform macular dystrophy


Other Names for this Disease
  • Best disease
  • Best macular dystrophy
  • BMD
  • BVMD
  • Early-onset vitelliform macular dystrophy
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Overview

Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected. BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. The condition is typically caused by mutations in the BEST1 gene; in a few cases the cause is unknown. Treatment is symptomatic and involves the use of low vision aids.[1]
Last updated: 2/13/2015

References

  1. Ian M MacDonald and Thomas Lee. Best Vitelliform Macular Dystrophy. GeneReviews. December 12, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1167/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Best vitelliform macular dystrophy. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • 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 Best vitelliform macular dystrophy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Best disease
  • Best macular dystrophy
  • BMD
  • BVMD
  • Early-onset vitelliform macular dystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.