May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
FEVR in Association With Chromosome 22q11.2 Deletion Syndrome
Author Affiliations & Notes
  • C. Toomes
    Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom
  • D. F. Gilmour
    Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom
  • V. Long
    St James's University Hospital, Leeds, United Kingdom
  • J. Bradbury
    Bradford Royal Infirmary, Bradford, United Kingdom
  • L. M. Downey
    Section of Ophthalmology and Neuroscience, Leeds Institute of Molecular Medicine, University of Leeds, Leeds, United Kingdom
    Hull Royal Infirmary, Hull, United Kingdom
  • Footnotes
    Commercial Relationships  C. Toomes, None; D.F. Gilmour, None; V. Long, None; J. Bradbury, None; L.M. Downey, None.
  • Footnotes
    Support  The Royal Society and The Wellcome Trust
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 467. doi:https://doi.org/
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      C. Toomes, D. F. Gilmour, V. Long, J. Bradbury, L. M. Downey; FEVR in Association With Chromosome 22q11.2 Deletion Syndrome. Invest. Ophthalmol. Vis. Sci. 2008;49(13):467. doi: https://doi.org/.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose: : To describe a case of familial exudative vitreoretinopathy (FEVR) in a patient with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome).

Methods: : Clinical assessment of a six month old female including dilated fundus examination by indirect ophthalmoscope. Standard cytogenetic analysis using fluorescent in situ hybridization (FISH).

Results: : A baby girl was born at term with micrognathia, cleft palate and retroglossoptosis. These features were severe enough to cause significant respiratory obstruction requiring tracheostomy. Eye examination revealed a temporal retinal detachment with temporal dragging of the disc, macula and retinal vessels in the left eye, and a retinal fold with temporal avascularity and mild dragging of the temporal vessels in the right eye. A diagnosis of FEVR with Pierre-Robin sequence was made. Cytogenetic analysis revealed a deletion spanning chromosome 22q11.2.

Conclusions: : To our knowledge this is the first description of FEVR in association with chromosome 22q11.2 deletion syndrome.

Keywords: retinal development • genetics • retina 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×