Novel retinal observations in a child with DiGeorge (22q11.2 deletion) syndrome

Abstract

PurposeDiGeorge (22q11.2 deletion) syndrome is the most common human deletion syndrome with wide range of ocular manifestations. Herein we describe a case with novel retinal observations in this conditions. ObservationsRetinal vascular dysplasia, peripapillary, intraretinal and vitreous hemorrhage were observed in a premature child with DiGeorge syndrome. Vitreous hemorrhage was treated with intravitreal injection of anti-angiogenicagents and pars plana vitrectomy surgery. Fundus fluorescein angiography did not confirm leakage of dye from dysplastic retinal vessels. Conclusions and ImportancePatients with DiGeorge syndrome may develop retinal vascular dysplasia, peripapillary, intraretinal and vitreous hemorrhage.