Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Best vitelliform macular dystrophy


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.

Tests & Diagnosis

Newline Maker

How is Best vitelliform macular dystrophy diagnosed?

Best vitelliform macular dystrophy (BVMD) may be diagnosed based on the findings on an exam of the fundus (the interior surface of the eye opposite the lens); an electrooculogram (EOG); and the family history. An eye exam may include other tests as well. A fundus exam may show a typical yellow yolk-like macular lesion. An EOG is usually abnormal in affected people, but occasionally, people with signs of BVMD and a mutation in the BEST1 gene have a normal EOG. The family history in affected people is often consistent with either autosomal dominant or autosomal recessive inheritance.[1]

Genetic testing may also be used to make a diagnosis of BVMD. A BEST1 mutation is detected in about 96% of affected people who have an affected family member. In people with no family history of BVMD, the mutation detection rate ranges between 50-70%. The exact type of genetic test ordered to confirm a diagnosis may depend on a person's ancestry, family history, and/or whether other eye disorders are also being considered.[1]
Last updated: 2/16/2015

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


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.