Bestrophinopathy Genetics:
Bestrophinopathy is a term to describe the heterogeneous group of phenotypes of degenerative retina disease most commonly caused by mutations in the BEST1 gene, which is typically inherited in an autosomal dominant fashion.
The BEST1 mutation spectrum underlying bestrophinopathies involves over 250 known mutations
BEST1 mutations are involved in more than Best Vitelliform Macular Dystrophy (commonly known as Best disease)1. These include:
- Adult-onset vitelliform macular dystrophy
- Autosomal recessive bestrophinopathy
- Retinitis pigmentosa
- Autosomal dominant vitreoretinochoroidopathy
- Rod-cone dystrophy
- Early onset cataract
- Posterior staphyloma syndrome
- Macular degeneration