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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.
These five associated diseases are: Best vitelliform macular dystrophy, autosomal recessive bestrophinopathy, adult-onset vitelliform macular dystrophy, autosomal dominant vitreoretinochoroidopathy, and retinitis pigmentosa. ...
These five associated diseases are: Best vitelliform macular dystrophy, autosomal recessive bestrophinopathy, adult-onset vitelliform macula …
Autosomal dominant vitreoretinochoroidopathy. Report of the third family.
Traboulsi EI, Payne JW. Traboulsi EI, et al. Arch Ophthalmol. 1993 Feb;111(2):194-6. doi: 10.1001/archopht.1993.01090020048021. Arch Ophthalmol. 1993. PMID: 8431155 Review.
A family composed of 13 affected members in five generations (10 patients from four generations examined) had vitreal and ophthalmoscopic findings characteristic of autosomal dominant vitreoretinochoroidopathy, as described in two previous kindreds. ...One pa …
A family composed of 13 affected members in five generations (10 patients from four generations examined) had vitreal and ophthalmoscopic fi …
Clinical features of the congenital vitreoretinopathies.
Edwards AO. Edwards AO. Eye (Lond). 2008 Oct;22(10):1233-42. doi: 10.1038/eye.2008.38. Epub 2008 Feb 29. Eye (Lond). 2008. PMID: 18309337 Review.
Other vitreoretinal degenerations including a number of chondrodysplasias in addition to STL1 and STL2, enhanced S-cone syndrome caused by mutations in NR2E3, and autosomal dominant vitreoretinochoroidopathy caused by mutations in VMD2 are discussed. ...
Other vitreoretinal degenerations including a number of chondrodysplasias in addition to STL1 and STL2, enhanced S-cone syndrome caused by m …
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 dystroph …
The purpose of this review is to describe this spectrum of phenotypes, which includes Best vitelliform macular dystrophy and adult-onset fov …
[VMD2 and its role in Best's disease and other retinopathies].
Stöhr H, Milenkowic V, Weber BH. Stöhr H, et al. Ophthalmologe. 2005 Feb;102(2):116-21. doi: 10.1007/s00347-004-1159-1. Ophthalmologe. 2005. PMID: 15627199 Review. German.
Missense mutations in VMD2 were also shown to be associated with vitreoretinochoroidopathy and ocular developmental abnormalities. In this case, the pathogenic sequence changes influence the peptide sequences but simultaneously alter the regulation of mRNA splicing and mat …
Missense mutations in VMD2 were also shown to be associated with vitreoretinochoroidopathy and ocular developmental abnormalities. In …