235
Views
13
CrossRef citations to date
0
Altmetric
Original Articles

Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes

, , &
Pages 693-698 | Received 07 Apr 2017, Accepted 19 Aug 2017, Published online: 17 Oct 2017

References

  • Liew G, Michaelides M, Bunce C. A comparison of the causes of blindness certifications in England and Wales in working age adults (16–64 years), 1999–2000 with 2009–2010. BMJ Open. 2014;4(2):e004015.
  • Simonelli F, Maguire AM, Testa F; et al. Gene therapy for Leber’s congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther. 2010;18(3):643–650.
  • Conlon TJ, Deng W-T, Erger K; et al. Preclinical potency and safety studies of an AAV2-Mediated gene therapy vector for the treatment of MERTK associated retinitis pigmentosa. Hum Gene Ther Clin Dev. 2013;24(1):23–28.
  • MacLaren RE, Groppe M, Barnard AR; et al. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. Lancet. 2014;383:1129–1137.
  • Kirschner R, Rosenberg T, Schultz-Heienbrok R; et al. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum Mol Genet. 1999;8(8):1571–15781.
  • Bennett SR, Folk JC, Kimura AE; et al. Autosomal dominant neovascular inflammatory vitreoretinopathy. Ophthalmology. 1990;97:1125–1135. discussion 1135–1126.
  • Stone EM, Kimura AE, Folk JC; et al. Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13. Hum Mol Genet. 1992;1:685–689.
  • Mahajan VB, Skeie JM, Bassuk AG; et al. Calpain-5 mutations cause autoimmune uveitis, Retinal Neovascularization, and photoreceptor degeneration. PLoS Genet. 2012;8(10):e1003001.
  • Schaefer KA, Toral MA, Velez G; et al. Calpain-5 expression in the retina localizes to photoreceptor synapses. Invest Ophthalmol Vis Sci. 2016;57(6):2509–2521.
  • Bassuk AG, Yeh S, Wu S; et al. Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment. PLoS ONE. 2015;10(4):e0122352.
  • Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler Transform. Bioinformatics. 2009;25(14):1754–1760.
  • Rimmer A, Phan H, Mathieson I; et al. Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications. Nat Genet. 2014;46(8):912–918.
  • Exome Aggregation Consortium (ExAC), Cambridge, MA. URL: http://exac.broadinstitute.org. Accessed: 26 10 2016.
  • MacLaren RE, Lightman SL. Variable phenotypes in patients diagnosed ith idiopathic multifocal chroiditis. Clin Exp Ophthalmol. Apr 2006;34(3):233–238.
  • Zatz M, Starling A. Calpains and disease. N Engl J Med. 2005;352:2413–2423.
  • Syntichaki P, Xu K, Driscoll M; et al. Specific aspartyl and calpain proteases are required for neurodegeneration in C. elegans. Nature. 2002;419:939–944.
  • Tlucek PS, Folk JC, Orien JA; et al. Inhibition of neovascularization but not fibrosis with the fluocinolone acetonide implant in autosomal dominant neovascular inflammatory vitreoretinopathy. Arch Ophthalmol. 2012;130(11):1395–1401.
  • Tlucek PS, Folk JC, Sobol WM; et al. Surgical management of fibrotic encapsulation of the fluocinolone acetonide implant in CAPN5-associated proliferative vitreoretinopathy. Clin Ophthalmol. 2013;7:1093–1098.
  • Wert KJ, Skeie JM, Bassuk AG; et al. Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina. Hum Mol Genet. 2014;23(10):2665–2677.
  • Wert KJ, Bassuk AG, Wu W-H; et al. CAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse model. Hum Mol Genet. 2015;24(16):4584–4598.
  • Franz T, Winckler L, Boehm T; et al. CAPN5 is expressed in a subset of T cells and is dispensable for development. Mol Cell Biol. 2004;24:1649–1654.
  • Imai S, Shimazawa M, Nakanishi T; et al. Calpain inhibitor protects cells against light-induced retinal degeneration. J Pharmacol Exp Ther. 2010;335:645–652.
  • David J, Melamud A, Kesner L; et al. A novel calpain inhibitor for treatment of transient retinal ischemia in the rat. Neuroreport. 2011;22:633–636.
  • Nguyen AT, Campbell M, Kenna PF; et al. Calpain and photoreceptor apoptosis. Adv Exp Med Biol. 2012;723:547–552.
  • Ozaki T, Nakazawa M, Yamashita T; et al. Intravitreal injection or topical eye-drop application of a mu-calpain C2L domain peptide protects against photoreceptor cell death in Royal College of Surgeons’ rats, a model of retinitis pigmentosa. Biochim Biophys Acta. 2012;1822:1783–1795.

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.