A new genotype of the IDH3A gene causes retinitis pigmentosa, generating functional dyschromatopsia from early childhood.

Abstract excerpt

INTRODUCTION: We report the case of a 42-year-old Venezuelan woman with childhood-onset autosomal recessive retinitis pigmentosa type 90 (RP90), presenting an unusual and distinctive clinical phenotype characterized by macular pseudocoloboma, very early-onset acquired color vision disorder progressing to severe functional dyschromatopsia, and early-onset severe posterior subcapsular cataracts. Her affected...

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