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Best vitelliform macular dystrophy (BVMD) is an autosomal dominant inherited eye disorder that can cause progressive vision loss.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
General information
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
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.
Additional information
References
Pubmed ID: 21197113
Omia ID: 1554
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