DiGeorge syndrome is a chromosomal deletion syndrome (22q11) associatedwith cardiovascular, craniofacial, neurologic, and ocular abnormalities, includingtortuous retinal blood vessels.1
An infant with confirmed DiGeorge syndrome was born at 28 weeks' gestationalage, weighing 790 g. The congenital systemic anomalies included tetralogyof Fallot and duodenal atresia. Between 30 and 40 weeks of adjusted gestationalage, the infant developed a maximum of stage 3 retinopathy of prematurity(ROP) with progressive posterior retinal vascular dilation and tortuosity.As the ROP evolved to stage 3, there was a diagnostic dilemma as to the causeof the dilated posterior retinal vessels (plus disease vs congenital vascularanomaly) (Figure 1 and Figure 2). The presence of plus disease isa marker for severe ROP, which may have significant treatment implications.It was not until the ROP regressed that the persistent retinal vascular tortuositycould be attributed to DiGeorge syndrome rather than plus disease (Figure 3). It is important to acknowledgeother potential causes of vascular tortuosity in certain infants being followedup for ROP.
Hill VE, Pietucha S, Ells AL. Congenital Vascular Tortuosity in DiGeorge Syndrome Mimicking SignificantRetinopathy of Prematurity. Arch Ophthalmol. 2004;122(1):132-133. doi:10.1001/archopht.122.1.132