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Ophthalmic Genetics Volume 39, 2018 - Issue 6
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Case Reports

FEVR findings in patients with Loeys-Dietz syndrome type II

Mark A. SolinskiRetinal Consultants, Des Plaines, IL, USAORCID Iconhttp://orcid.org/0000-0002-3659-9639
ORCID Icon,
Michael P. BlairRetinal Consultants, Des Plaines, IL, USA;Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, USA;Department of Ophthalmology and Visual Sciences, University of Chicago, Chicago, IL, USA
,
Harry DietzHoward Hughes Medical Institute and The McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA;Division of Pediatric Cardiology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA;Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
,
David MittelmanAdvocate Lutheran General Hospital, Park Ridge, IL, USA
&
Michael J. ShapiroRetinal Consultants, Des Plaines, IL, USA;Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, USACorrespondence[email protected]
Pages 754-758 | Received 12 Jun 2018, Accepted 30 Sep 2018, Published online: 08 Nov 2018

References

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  • Loeys, B. L., Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, et al. Aneurysm syndromes caused by mutations in the TGF-beta receptor. New Engl J Med. 2006;355:788–98. doi:10.1056/NEJMoa055695.
  • Loeys BL, Dietz HC. Loeys-Dietz Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  • Van Hemelrijk C, Renard M, Loeys B. The Loeys-Dietz syndrome: an update for the clinician. Curr Opin Cardiol. 2010;25:546–51. doi:10.1097/HCO.0b013e32833f0220.
  • Singh KK, Rommel K, Mishra A, Karck M, Haverich A, Schmidtke J, Arslan‐Kirchner M. TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. Hum Mutat. 2006;27:770–77. doi:10.1002/humu.20354.
  • Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol. 1969;68:578–94.
  • Ranchod TM, Ho LY, Drenser KA, Capone A, Trese MT. Clinical presentation of familial exudative vitreoretinopathy. Ophthalmology. 2011;118:2070–75. doi:10.1016/j.ophtha.2011.06.020.
  • Longmuir SQ, Winter TW, Gross JR, Boldt CB. Primary peripheral retinal non-perfusion in a family with Loeys-Dietz Syndrome. J Am Assoc Pediatr Ophthalmol Strabismus. 2016;18:288–90. doi:10.1016/j.jaapos.2013.12.013.
  • Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47:476–85. doi:10.1136/jmg.2009.072785.

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