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Ophthalmic Genetics Volume 41, 2020 - Issue 4
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Case Reports

A unique case of coats plus syndrome and dyskeratosis congenita in a patient with CTC1 mutations

Elaine Hana Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL, USAORCID Iconhttps://orcid.org/0000-0003-1694-1908
ORCID Icon,
Nimesh A. Patela Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL, USAORCID Iconhttps://orcid.org/0000-0002-6681-6104
ORCID Icon,
Nicolas A. Yannuzzia Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL, USA
,
Diana M. Lauraa Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL, USA
,
Kenneth C. Fana Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL, USAORCID Iconhttps://orcid.org/0000-0002-4453-9337
ORCID Icon,
Catherin I. Negrona Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL, USA
,
Supalert Prakhunhungsita Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL, USA;b Department of Ophthalmology, Siriraj Hospital, Mahidol University, Bangkok, Thailand
,
Willa L. Thorsonc Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL, USA
&
Audina M. Berrocala Department of Ophthalmology, Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, Miami, FL, USACorrespondence[email protected]
 show all
Pages 363-367 | Received 10 Apr 2020, Accepted 17 May 2020, Published online: 16 Jun 2020

References

  • Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O’Sullivan J, et al. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause coats plus. Nat Genet. 2012;44(3):338–42. doi:10.1038/ng.1084.
  • Polvi A, Linnankivi T, Kivelä T, Herva R, Keating J, Mäkitie O, Pareyson D, Vainionpää L, Lahtinen J, Hovatta I, et al. Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. Am J Hum Genet. 2012;90(3):540–49. doi:10.1016/j.ajhg.2012.02.002.
  • Vulliamy TJ, Dokal I. Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex. Biochimie. 2008;90:122–30. doi:10.1016/j.biochi.2007.07.017.
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  • Chen LY, Majerska J, Lingner J. Molecular basis of telomere syndrome caused by CTC1 mutations. Genes Dev. 2013;27:2099–108. doi:10.1101/gad.222893.113.
  • Revesz T, Fletcher S, al-Gazali LI, DeBuse P. al-Gazali, L.I. & DeBuse, P. Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome? J Med Genet. 1992;29(9):673–75. doi:10.1136/jmg.29.9.673.
  • Alter BP, Rosenberg PS, Giri N, Baerlocher GM, Lansdorp PM, Savage SA. Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. Haematologica. 2012;97(3):353–59. doi:10.3324/haematol.2011.055269.
  • Fernandez Garcia MS, Teruya-Feldstein J. The diagnosis and treatment of dyskeratosis congenita: a review. J Blood Med. 2014;5:157–67. doi:10.2147/JBM.S47437.
  • Cebeci Z, Bayraktar S, Yilmaz YC, Tuncer S, Kir N. Evaluation of follow-up and treatment results in coats’ disease. Turk J Ophthalmol. 2016;46:226–31. doi:10.4274/tjo.12754.

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