vitelliform macular dystrophy; Best macular dystrophy
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Epidemiology
rare
Pathology
- 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within & beneath the retinal pigment epithelium cells
- 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
More general terms
References
- ↑ Altaweel M and Roy H eMedicine: Best Disease http://emedicine.medscape.com/article/1227128-overview
- ↑ eyeWiki: Best disease http://eyewiki.aao.org/Best_Disease
- ↑ Retina International: Rare Conditions http://www.retina-international.org/eye-conditions/retinal-degenerative-conditions/rare-conditions/
- ↑ MacDonald IM and Lee T Best Vitelliform Macular Dystrophy. Gene Reviews. NCBI Bookshelf http://www.ncbi.nlm.nih.gov/books/NBK1167/
- ↑ Foundation for Fighting Blindness: Best Disease https://www.blindness.org/index.php?view=article&id=246%3Abest-disease&option=com_content&Itemid=88