However, screening of the NRL gene in several cohorts of ESCS patients (a total of 44 ESCS patients, and 749 patients with different types of inherited retinal dystrophies) [18,26,27] revealed only two siblings carrying compound heterozygous mutations in NRL (p.L75fs and p.L160P) [18], indicating that autosomal recessive mutations in NRL are a rare cause of ESCS) [18,19,20,21]. This evidence concerns the gene NRL and Retinal dystrophy.