Homozygosity for a Recessive Loss-of-Function Mutation of the <i>NRL</i> Gene Is Associated With a Variant of Enhanced S-Cone Syndrome

Abstract

Homozygosity for the recessive NRL mutation described here appears to be associated with a distinct retinal phenotype, demonstrating ERG characteristics similar to those of ESCS patients. This report expands the spectrum of NRL recessive mutations, as well as the genetic spectrum of ESCS, and indicates a new syndrome of OPMD with an ESCS-like phenotype.