FEVR findings in patients with Loeys-Dietz syndrome type II

Mark A. Solinski, Michael P. Blair, Harry Dietz, David Mittelman, Michael J. Shapiro

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Loeys-Dietz syndrome (LDS) is a connective tissue disorder that has phenotypic overlap with Marfan syndrome. In LDS, the aortic root dissections can be more aggressive and occur at a younger age than Marfan syndrome. Materials and Methods: Review of two cases. Results: A 7-year old boy with history of LDS was found to have a vitreous hemorrhage in the right eye. Further examination showed findings of Familial Exudative Vitreoretinopathy (FEVR). Both eyes were found to have peripheral non-perfusion and neovascularization. A non-related 25-month-old boy with no molecularly confirmed connective tissue disorder was found to have bilateral peripheral non-perfusion and bilateral tractional retinal detachments. The boy was clinically diagnosed with Larsen syndrome, Ehlers-Danlos syndrome kyphoscoliotic form, and Marfan syndrome before presentation. The FEVR lead to consideration of LDS that was molecularly confirmed. Consequently, he was monitored for aortic root dilation. Conclusion: FEVR findings may lead to diagnosis of LDS and patients with LDS may present with proliferative retinopathy.

Original languageEnglish (US)
Pages (from-to)754-758
Number of pages5
JournalOphthalmic genetics
Volume39
Issue number6
DOIs
StatePublished - Nov 2 2018

Keywords

  • Kyphoscoliotic Ehlers-Danlos syndrome
  • LDS type II
  • Larsen syndrome
  • Loeys-Dietz syndrome
  • Marfan syndrome
  • Retinal neovascularization
  • retinal detachment
  • transforming growth factor beta receptor II

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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