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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.
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© ARVO (1962-2015); The Authors (2016-present)
To describe a case of familial exudative vitreoretinopathy (FEVR) in a patient with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome).
Clinical assessment of a six month old female including dilated fundus examination by indirect ophthalmoscope. Standard cytogenetic analysis using fluorescent in situ hybridization (FISH).
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.
To our knowledge this is the first description of FEVR in association with chromosome 22q11.2 deletion syndrome.
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