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