Peter's anomaly: why early detection is important

Abstract

Peter's anomaly is a rare congenital anomaly. Healthcare providers only have a small ‘window of opportunity’ to diagnose the anomaly after birth and save the sight of a child. In this case, a 9-day-old African American presented to the paediatric primary care clinic for a well-child examination. His initial vision check in the newborn nursery had revealed no abnormalities of the eyes. As the paediatric nurse practitioner was performing his physical examination, she assessed the absence of the red reflex and referred the infant to the appropriate specialist. A child's sight was saved. The most important message from this case is that primary care practitioners must perform complete physical examinations of newborns, including the basic assessment of the infant's eyes.