Bestrophin 1 and retinal disease.
Johnson AA, Guziewicz KE, Lee CJ, Kalathur RC, Pulido JS, Marmorstein LY, Marmorstein AD.
Johnson AA, et al.
Prog Retin Eye Res. 2017 May;58:45-69. doi: 10.1016/j.preteyeres.2017.01.006. Epub 2017 Jan 30.
Prog Retin Eye Res. 2017.
PMID: 28153808
Free PMC article.
Review.
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 …
Mutations in the gene BEST1 are causally associated with as many as five clinically distinct retinal degenerative diseases, which are collec …