Norrie Disease - An Overview

Norrie disease is a rare, severe inherited neurodevelopmental disorder primarily affecting the eye. It was first described by the Danish ophthalmologist Gordon Norrie in 1927, and later, Dr. Mette Warburg established its X-linked recessive inheritance pattern in 1961. The condition is caused by mutations in the NDP gene located on chromosome Xp11.3, which encodes the protein norrin. Norrin is a secreted protein that acts as a ligand for the Wnt/β-catenin signalling pathway (binding to the Frizzled-4 receptor), playing a critical role in the vascular development of the retina and the stria vascularis of the cochlea.