Expanding the retinal phenotype of <i>RP1</i>: from retinitis pigmentosa to a novel and singular macular dystrophy

Abstract

This study describes, for the first time, a macular dystrophy phenotype caused by an <i>RP1</i> mutation; establishing a new genotype-phenotype correlation in this gene, expanding its mutation spectrum and further highlighting the clinical heterogeneity associated with IRD.