Autosomal recessive retinopathy (ARRP) associated with a novel variant in NR2E3 gene

Aim To report a case of autosomal recessive retinopathy (ARRP) associated with a novel homozygous deletion in NR2E3 gene.Methods A female patient with symptoms and findings typical for retinal dystrophy underwent comprehensive clinical, functional and morphologic examinations, including multimodal imaging and electroretinography. Next generation sequencing (NGS) analysis of 63 genes previously associated with retinal dystrophy (RD) was performed.Results Genetic analysis identified a novel homozygous deletion in NR2E3 gene: Chr15(GRCh37): g.71817633del c.1182del p. (Ile395*) resulting in the complete deletion of the NR2E3 AF2 domain which is associated with the observed phenotype consistent with retinal degeneration pathway described in Enhanced S-Cone Syndrome (ESCS).Conclusions A previously unreported homozygous deletion in the NR2E3 gene was identified as the cause of ESCS.