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Page 1
Autosomal dominant vitreoretinochoroidopathy.
Roider J, Fritsch E, Hoerauf H, Heide W, Laqua H. Roider J, et al. Retina. 1997;17(4):294-9. doi: 10.1097/00006982-199707000-00003. Retina. 1997. PMID: 9279944
BACKGROUND: Autosomal dominant vitreoretinochoroidopathy recently has been described as a condition characterized by peripheral chorioretinal atrophy and areas of hypopigmentation and hyperpigmentation between the equator and the ora serrata circumferentially …
BACKGROUND: Autosomal dominant vitreoretinochoroidopathy recently has been described as a condition characterized by pe …
Autosomal dominant vitreoretinochoroidopathy.
Kaufman SJ, Goldberg MF, Orth DH, Fishman GA, Tessler H, Mizuno K. Kaufman SJ, et al. Arch Ophthalmol. 1982 Feb;100(2):272-8. doi: 10.1001/archopht.1982.01030030274008. Arch Ophthalmol. 1982. PMID: 7065944
Autosomal dominant vitreoretinochoroidopathy is a newly described fundus dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation, usually lying between the vortex veins and the ora serrata for 360 degrees. ...
Autosomal dominant vitreoretinochoroidopathy is a newly described fundus dystrophy characterized by abnormal chorioreti …
Autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Blair NP, Goldberg MF, Fishman GA, Salzano T. Blair NP, et al. Br J Ophthalmol. 1984 Jan;68(1):2-9. doi: 10.1136/bjo.68.1.2. Br J Ophthalmol. 1984. PMID: 6689931 Free PMC article.
We report the second family recognised to have autosomal dominant vitreoretinochoroidopathy. The clinical features were (1) autosomal dominant inheritance; (2) peripheral, coarse pigmentary degeneration of the fundus for 360 degrees, with a relatively discret …
We report the second family recognised to have autosomal dominant vitreoretinochoroidopathy. The clinical features were …
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. The most common of these is Best v …
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. Visual ac …
A family composed of 13 affected members in five generations (10 patients from four generations examined) had vitreal and ophthalmoscopic fi …
Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree.
Lafaut BA, Loeys B, Leroy BP, Spileers W, De Laey JJ, Kestelyn P. Lafaut BA, et al. Graefes Arch Clin Exp Ophthalmol. 2001 Aug;239(8):575-82. doi: 10.1007/s004170100318. Graefes Arch Clin Exp Ophthalmol. 2001. PMID: 11585313
PURPOSE: To report the clinical and electrophysiological findings in a three-generation pedigree with autosomal dominant vitreoretinochoroidopathy. METHODS: Sixteen members of a three-generation pedigree with autosomal dominant vitreoretinoch …
PURPOSE: To report the clinical and electrophysiological findings in a three-generation pedigree with autosomal dominant vi …
Electro-oculography in autosomal dominant vitreoretinochoroidopathy.
Han DP, Lewandowski MF. Han DP, et al. Arch Ophthalmol. 1992 Nov;110(11):1563-7. doi: 10.1001/archopht.1992.01080230063021. Arch Ophthalmol. 1992. PMID: 1444912
Thirteen members of a family presumed to be harboring the gene for autosomal dominant vitreoretinochoroidopathy were examined. In four affected members, electro-oculography demonstrated marked reduction of the Arden ratio (range, 1.1 to 1.5; normal, > or = …
Thirteen members of a family presumed to be harboring the gene for autosomal dominant vitreoretinochoroidopathy were ex …
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC. Yardley J, et al. Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. doi: 10.1167/iovs.04-0550. Invest Ophthalmol Vis Sci. 2004. PMID: 15452077
PURPOSE: To investigate the genetic basis of autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare, inherited retinal dystrophy that may be associated with defects of ocular development, including nanophthalmos. ...
PURPOSE: To investigate the genetic basis of autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare, inherited r …
AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis.
Boulanger-Scemama E, Sahel JA, Mohand-Said S, Antonio A, Condroyer C, Zeitz C, Audo I. Boulanger-Scemama E, et al. Retina. 2019 May;39(5):867-878. doi: 10.1097/IAE.0000000000002041. Retina. 2019. PMID: 29370033
PURPOSE: Autosomal dominant vitreoretinochoroidopathy is an extremely rare disease, which belongs to the BEST1-related disease spectrum. ...Targeted next-generation sequencing can contribute to the proper clinical diagnosis, especially in case of atypical phe …
PURPOSE: Autosomal dominant vitreoretinochoroidopathy is an extremely rare disease, which belongs to the BEST1-related …
Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1.
Mainguy A, Dhaenens CM, Poncet A, Billaud F, Giraud L, Zanlonghi X, Masse H, Le Meur G. Mainguy A, et al. Ophthalmic Genet. 2024 Oct;45(5):470-475. doi: 10.1080/13816810.2024.2368797. Epub 2024 Jul 3. Ophthalmic Genet. 2024. PMID: 38957071
BACKGROUND: This case report explores the relationship between genetics and phenotypic variability in autosomal dominant vitreoretinochoroidopathy (ADVIRC). The study focuses on a case presenting a novel mutation in the BEST1 gene and its phenotype in the cas …
BACKGROUND: This case report explores the relationship between genetics and phenotypic variability in autosomal dominant vi …
29 results