294
Views
4
CrossRef citations to date
0
Altmetric
Case Reports

Progressive Cone Dysfunction and Geographic Atrophy of the Macula in Late Stage Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

&
Pages 81-85 | Received 05 Jan 2014, Accepted 25 Jan 2014, Published online: 24 Feb 2014

References

  • Kaufman SJ, Goldberg MF, Orth DH, et al. Autosomal dominant vitreoretinochoroidopathy. Arch Ophthalmol 1982;100:272–278
  • Traboulsi EI, Payne JW. Autosomal dominant vitreoretinochoroidopathy. Report of the third family. Arch Ophthalmol 1993;111:194–196
  • Burgess R, MacLaren RE, Davidson AE, et al. ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. J Med Genet 2009;46:620–625
  • Blair NP, Goldberg MF, Fishman GA, et al. Autosomal dominant vitreoretinochoroidopathy (ADVIRC). Br J Ophthalmol 1984;68:2–9
  • Goldberg MF, Lee FL, Tso MO, et al. Histopathologic study of autosomal dominant vitreoretinochoroidopathy. Peripheral annular pigmentary dystrophy of the retina. Ophthalmology 1989;96:1736–1746
  • Oh KT, Vallar C. Central cone dysfunction in autosomal dominant vitreoretinochoroidopathy (ADVIRC). Am J Ophthalmol 2006;141:940–943
  • Boon CJ, Klevering BJ, Leroy BP, et al. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res 2009;28:187–205
  • Yardley J, Leroy BP, Hart-Holden N, et al. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci 2004;45:3683–3689
  • Lefaut BA, Loeys B, Leroy BP, et al. Clinical and electrophysiological findings in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree. Graefes Arch Clin Exp Ophthalmol 2001;239:575–582
  • Bakall B, Marmorstein LY, Hoppe G, et al. Expression and localization of bestrophin during normal mouse development. Invest Ophthalmol Vis Sci 2003;44:3622–3628

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.