Copy-Number Variations in<i>EYS:</i>A Significant Event in the Appearance of arRP

Abstract

This is the first report of a systematic CNV screening of EYS gene in a cohort of arRP patients. Results suggest that midsized genomic rearrangements in EYS gene would be a common event in the appearance of RP phenotype. An efficient and cost-effective strategy validating a novel MLPA kit as a complementary diagnostic method for EYS pathogenic evaluation has been demonstrated.