€57,48 €47,50 excl. VAT
Best vitelliform macular dystrophy (BVMD) is an autosomal dominant inherited eye disorder that can cause progressive vision loss.
10 working days
Swab, Blood EDTA, Blood Heparin, Semen, Tissue
|Mode of Inheritance|
|Also known as|
Best vitelliform macular dystrophy (BVMD) is an autosomal dominant inherited eye disorder that can cause progressive vision loss. The disease causes an accumulation of fatty yellow pigment in the macular area. The build-up causes damage to light sensitive cells, which are responsible for clear vision. The disease is caused by a mutation in the BEST1 gene.
Clinical features are multifocal vitelliform, atrophic lesions or chorioretinal scars. The age of onset and progression in which the disease develops is not consisent. In addition, the accumulation of the fatty yellow pigments results in the visual impairments range of minor decrease of the central vision to complete central blindness.
Pubmed ID: 21197113
Omia ID: 1554