EIF2AK3 and Norrie disease: These included variants in EIF2AK3, which were the most common cause, in addition to homozygous variants in two recently reported etiological genes, ZNF808 and NARS2. Further research on genetic causes of ND, especially among populations with high rates of consanguinity, may expand the spectrum of genetic causes and give further insights into the pathogenesis of this disease.