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vitelliform macular dystrophy; Best macular dystrophy

Epidemiology: rare Pathology: 1) 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within & beneath the retinal pigment epithelium cells 2) progression leads to destruction of retinal pigment epithelium & vision loss Genetics: - autosomal dominant - incomplete penetrance & highly variable expression - associated with defects in BEST1 gene - associated with defects in PRPH2 gene Clinical manifestations: - age of onset varies from very early childhood to adolescence (BEST1) to 4th or 5th decade (PRPH2, BEST1) - protracted decrease in visual acuity

Interactions

disease interactions

General

genetic disease of the eye macular degeneration

Database Correlations

OMIM correlations

References

  1. Altaweel M and Roy H eMedicine: Best Disease http://emedicine.medscape.com/article/1227128-overview
  2. eyeWiki: Best disease http://eyewiki.aao.org/Best_Disease
  3. Retina International: Rare Conditions http://www.retina-international.org/eye-conditions/retinal-degenerative-conditions/rare-conditions/
  4. MacDonald IM and Lee T Best Vitelliform Macular Dystrophy. Gene Reviews. NCBI Bookshelf http://www.ncbi.nlm.nih.gov/books/NBK1167/
  5. Foundation for Fighting Blindness: Best Disease https://www.blindness.org/index.php?view=article&id=246%3Abest-disease&option=com_content&Itemid=88