242
Views
0
CrossRef citations to date
0
Altmetric
Case Reports

A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance

, , , &
Pages 570-574 | Received 21 Jan 2017, Accepted 09 Apr 2017, Published online: 08 May 2017

References

  • Best F. Uber eine hereditare Makulaaffektion, Beitra¨ge zur Vererbungslehre. Z Augenheilkd 1905;13:199–212.
  • Boon C, Klevering B, Leroy B, et al. The spectrum of ocular phenotypes caused by mutations in the Best1 Gene. Prog Retin Eye Res 2009;28:187–205.
  • Pasquay C, Wang LF, Lorenz B, et al. Bestrophin 1 phenotypes and functional aspects in bestrophinopathies. Ophthalmic Genet 2015;36:193–212.
  • Sun H, Tsunenari T, Yau K, et al. The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci U S A 2002;99:4008–4013.
  • Tsunenari T, Sun H, Williams J, et al. Structure-function analysis of the bestrophin family of anion channels. J Biol Chem 2003;278(42):41114–41125.
  • Hartzell C, Qu Z, Putzier I, et al. Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration. Physiology 2005;20:292–302.
  • Rosenthal R, Bakall B, Kinnick T, et al. Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca2+ channels in retinal pigment epithelial cells. Faseb J 2006;20:178–180.
  • Marmorstein A, Cross H, Peachey N. Functional roles of bestrophins in ocular epithelia. Prog Retin Eye Res 2009;28:206–226.
  • Davidson A, Millar I, Burgess-Mullan R, et al. Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. Invest Ophth Vis Sci 2011;52(6):3730–3736.
  • Davidson A, Millar I, Urquhart J. Missense mutations in a retinal pigment epithelium protein bestrophin-1 cause retinitis pigmentosa. Am J Hum Genet 2009;85:581–592.
  • Schatz P, Klar J, Andreasson S, et al. Variant phenotype of best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. Ophthalmic Genet 2006;27:51–56.
  • Burgess R, Millar I, Leroy B. Biallelic mutations of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet 2008;82:19–31.
  • Kinnick T, Mullins R, Dev S, et al. Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. Retina 2011;3:581–595.
  • Iannaccone A, Kerr N, Kinnick T, et al. Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications. Arch Ophthalmol 2011;129(2):211–217.
  • Lee C, Jun I, Choi S, et al. A novel BEST1 mutation in autosomal recessive bestrophinopathy. Retina 2015;56:8141–8150.
  • Deutman A. Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state. Arch Ophthalmol 1969;81:305–316.
  • Guerriero S, Preising M, Ciccolella N, et al. Autosomal recessive bestrophinopathy: new observations on the retinal phenotype: clinical and molecular report of an Italian family. Ophthalmologica 2011;225:228–235.
  • MacDonald I, Gudiseva H, Villanueva A, et al. Phenotype and genotype of patients with AR bestrophinopathy. Ophthalmic Genet 2012;33:123–129.
  • Pomares E, Bures-Jelstrup A, Ruiz-Nogales S, et al. Nonsense-mediated decay as the molecular cause for AR bestrophinopathy in two unrelated families. Invest Ophth Vis Sci 2012;53:433–437.
  • Boon C, Van Den Born L, Visser L, et al. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. Ophthalmology 2013;120:809–820.
  • Madhusudan S, Hussain A, Sahni J. Value of anti-VEGF treatment in choroidal neovascularization associated with autosomal recessive bestrophinopathy. Digit J Ophthalmol 2013;19:59–63.
  • Crowley C, Paterson R, Lamey T, et al. Autosomal recessive bestrophinopathy associated with angle closure glaucoma. Doc Ophthalmol 2014;129:57–63.
  • Sharon D, Al-Hamdani S, Engelsberg K, et al. Ocular phenotype analysis of a family with biallelic mutations in the BEST1 gene. Am J Ophthalmol 2014;157:697–709.
  • Hussain R, Shahid F, Empeslidis T, et al. Use of intravitreal Bevacizumab in a 9-year old child with choroidal neovascularization associated with autosomal recessive bestrophinopathy. Ophthalmic Genet 2015;36(3):265–269.
  • Lotery A, Munier F, Fishman G, et al. Allelic variation in the VMD2 gene in best disease and ARMD. Invest Ophth Vis Sci 2000;41:1291–1296.
  • Marchant D, Gogat K, Boutboul S, et al. Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. Hum Mutat 2001;17(3):235.
  • Marchant D, Yu K, Bigot K, et al. New VMD2 gene mutations identified in patients affected by best vitelliform macular dystrophy. J Med Genet 2007;44(3):e70.
  • Katagiri S, Hayashi T, Ohkuma Y, et al. Mutation analysis of BEST1 in Japanese patients with best’s vitelliform macular dystrophy. Br J Ophthalmol 2015;99:1577–1582.
  • Fung A, Yzer S, Goldberg N, et al. New Best1 mutations in autosomal recessive bestrophinopathy. Retina 2015;35:773–782.
  • Fung A, Yzer S, Allikmets S. Clinical and genetic misdiagnosis of autosomal recessive bestrophinopathy. JAMA Ophthalmol 2013;26:866–871.
  • Borman A, Davidson A, O’Sullivan J, et al. Childhood-onset autosomal recessive bestrophinopathy. Arch Ophthalmol 2011;129(8):1088–1093.
  • Cascavilla M, Querques G, Stenirri S, et al. Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy. Ophthalmic Res 2012;48:146–150.
  • Sodi A, Menchini F, Manitto M, et al. Ocular phenotypes associated with biallelic mutations in BEST1 in Italian patients. Mol Vis 2011;17:3078–3087.
  • Wittstrom E, Ekvall S, Schatz P, et al. Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in Best1. Ophthalmic Genet 2011;32(2):83–96.
  • Zhao L, Grob S, Corey R, et al. A novel compound heterozygous mutation in the Best1 gene causes AR best macular dystrophy. Eye 2012;26:866–871.
  • Nakaniski A, Ueno S, Hayashi T, et al. Clinical and genetic findings of autosomal recessive bestrophinopathy in a Japanese cohort. Am J Ophthalmol 2016;168:86–94.
  • Piniero-Gallego T, Alvarez M, Pereiro I, et al. Clinical evaluation of two consanguineous families with homozygous mutations in Best1. Mol Vis 2011;17:1607–1617.

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.