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Best Vitelliform Macular Dystrophy.
Tsang SH, Sharma T. Tsang SH, et al. Adv Exp Med Biol. 2018;1085:157-158. doi: 10.1007/978-3-319-95046-4_29. Adv Exp Med Biol. 2018. PMID: 30578502 Review.
Autosomal recessive bestrophinopathy (ARB) results from a total absence of functional bestrophin-1 protein owing to two BEST1 mutations, one on each of the chromosomes. ...The yellowish lesions are larger and more extensive-extending beyond the arcades-than i …
Autosomal recessive bestrophinopathy (ARB) results from a total absence of functional bestrophin-1 protein owing to two …
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 …
Macular neovascularization in inherited retinal diseases: A review.
Heath Jeffery RC, Chen FK. Heath Jeffery RC, et al. Surv Ophthalmol. 2024 Jan-Feb;69(1):1-23. doi: 10.1016/j.survophthal.2023.07.007. Epub 2023 Aug 6. Surv Ophthalmol. 2024. PMID: 37544613 Free article. Review.
Peripherinopathies may develop MNV that responds well to a short course of anti-vascular endothelial growth factor (anti-VEGF) therapy, while bestrophinopathies tend to develop MNV in the early stages of the disease without vision loss. ...
Peripherinopathies may develop MNV that responds well to a short course of anti-vascular endothelial growth factor (anti-VEGF) therapy, whil …
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI. Boon CJ, et al. Prog Retin Eye Res. 2009 May;28(3):187-205. doi: 10.1016/j.preteyeres.2009.04.002. Epub 2009 Apr 16. Prog Retin Eye Res. 2009. PMID: 19375515 Review.
The purpose of this review is to describe this spectrum of phenotypes, which includes Best vitelliform macular dystrophy and adult-onset foveomacular vitelliform dystrophy, autosomal dominant vitreoretinochoroidopathy, the MRCS (microcornea, rod-cone dystrophy, cataract, p …
The purpose of this review is to describe this spectrum of phenotypes, which includes Best vitelliform macular dystrophy and adult-onset fov …
[Mutation-Dependent Mechanisms and Their Impact on Targeted Therapeutic Strategies with Reference to Bestrophin 1 and the Bestrophinopathies].
Milenkovic A, Brandl C, Nachtigal AL, Kellner U, Weber BHF. Milenkovic A, et al. Klin Monbl Augenheilkd. 2020 Mar;237(3):259-266. doi: 10.1055/a-1065-2129. Epub 2020 Mar 2. Klin Monbl Augenheilkd. 2020. PMID: 32120431 Review. German.
While the autosomal dominant inheritance pattern with one altered copy of BEST1 is common, heterozygous carriers of the autosomal recessive bestrophinopathy are generally but not consistently symptom-free. This review highlights the significance of und …
While the autosomal dominant inheritance pattern with one altered copy of BEST1 is common, heterozygous carriers of the autosomal …