Article
Bestrophin 1 and retinal disease.
Progress in retinal and eye research - 1 May 2017
Johnson Adiv A, Guziewicz Karina E, Lee C Justin, Kalathur Ravi C, Pulido Jose S, Marmorstein Lihua Y, Marmorstein Alan D
Abstract excerpt
Mutations in the gene BEST1 are causally associated with as many as five clinically distinct retinal degenerative diseases, which are collectively referred to as the "bestrophinopathies". These five associated diseases are: Best vitelliform macular dystrophy, autosomal recessive bestrophinopathy, adult-onset vitelliform macular dystrophy, autosomal dominant vitreoretinochoroidopathy, and retinitis pigmentosa. The...
Topics
- Animals
- Bestrophins
- DNA
- DNA Mutational Analysis
- Disease Models, Animal
- Humans
- Mice
- Mutation
- Retinal Diseases