Aggressive posterior retinopathy of prematurity in baby showing features of cardiofacial syndrome overlapping with pearl syndrome

Abstract

We report the case of a preterm infant referred to us for retinopathy of prematurity (ROP) screening at postmenstrual age of 35 weeks who presented with right-sided congenital lower motor neuron type facial nerve palsy, lagophthalmos, normal anterior segment findings, and aggressive posterior ROP on the fundus examination in both eyes. Right-sided microtia, normal left ear, and asymmetric crying facies were noted. The baby received intravitreal bevacizumab 0.625 mg in both eyes after systemic workup which revealed a ventricular septal defect with patent ductus arteriosus and normal brain magnetic resonance imaging. At 2 months postinjection, the plus disease decreased significantly with vessels developing up to zone 3 with no ROP in both the eyes.

Keywords

• aggressive posterior retinopathy of prematurity
• cardiofacial syndrome
• congenital facial palsy
• intravitreal bevacizumab
• microtia
• pearl syndrome