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. 2021 Oct 1;61(4):167-172.
doi: 10.1097/IIO.0000000000000376.

BEST Disease and Gene Therapy

Abraham Scaria

BEST Disease and Gene Therapy

Abraham Scaria. Int Ophthalmol Clin. .
No abstract available

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Conflict of interest statement

The author declares that there is no conflicts of interest to disclose.

References

    1. Petrukhin K, Koisti MJ, Bakall B, et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998;19:241–247.
    1. Marquardt A, Stohr H, Passmore LA, et al. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best’s disease). Hum Mol Genet. 1998;7:1517–1525.
    1. Marmorstein AD, Marmorstein LY, Rayborn M, et al. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the RPE. Proc Natl Acad Sci USA. 2000;97:12758–12763.
    1. Sun H, Tsunenari T, Yau KW, et al. The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci USA. 2002;99:4008–4013.
    1. Singh R, Shen W, Kuai D, et al. iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration. Hum Mol Genet. 2013;22:593–607.

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