180
Views
6
CrossRef citations to date
0
Altmetric
Letter to the Editor

Early Onset Neovascular Inflammatory Vitreoretinopathy Due to a De Novo CAPN5 Mutation: Report of a Case

, MD, , BA, , MD & , MD
Pages 706-708 | Received 10 Oct 2018, Accepted 11 Feb 2019, Published online: 15 Apr 2019

REFERENCES

  • Velez G, Bassuk AG, Colgan D, Tsang SH, Mahajan VB Therapeutic drug repositioning using personalized proteomics of liquid biopsies. LID - 10.1172/jci.insight.97818 [doi] LID - 97818 [pii]. (2379-3708 (Electronic)).
  • 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. doi:10.1371/journal.pgen.1003001.
  • Velez G, Bassuk AG, Schaefer KA, et al. A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay. Cold Spring Harb Mol Case Stud. 2018. doi:10.1101/mcs.a002519.
  • Wert KJ, Bassuk AG, Wu WH, 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. doi:10.1093/hmg/ddv189.
  • Wang Y, Li H, Zang S, et al. Photoreceptor cell-derived CAPN5 regulates retinal pigment epithelium cell proliferation through direct regulation of SLIT2 cleavage. Invest Ophthalmol Vis Sci. 2018;59(5):1810–1821. doi:10.1167/iovs.17-22689.

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.