Chromatic Full-Field Stimulus Threshold and Pupillography as Functional Markers for Late-Stage, Early-Onset Retinitis Pigmentosa Caused by <i>CRB1</i> Mutations

Abstract

The functional measurements presented in this study present a valid clinical progression marker in late-stage early onset retinitis pigmentosa caused by biallelic <i>CRB1</i> mutations. Additionally, they can be used as outcome measures for safety and efficacy in clinical therapy trials.