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

• Main Authors: Vinit Jayendra Shah, Syed Mohideen Abdul Khadar, Syed Saifuddin Adeel, Shobita Nair
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2021-01-01
• Series: TNOA Journal of Ophthalmic Science and Research
• Subjects: aggressive posterior retinopathy of prematurity; cardiofacial syndrome; congenital facial palsy; intravitreal bevacizumab; microtia; pearl syndrome
• Online Access: http://www.tnoajosr.com/article.asp?issn=2589-4528;year=2021;volume=59;issue=1;spage=74;epage=76;aulast=Shah
• ISSN: 2589-4528; 2589-4536

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.