Enhanced S-cone syndrome and NR2E3-associated disorders

Abstract

The NR2E3 gene encodes a photoreceptor-specific transcription factor with a role in rod photoreceptor development. Biallelic variants in NR2E3 cause a characteristic retinopathy called enhanced S-cone syndrome (also known as Goldmann-Favre syndrome). In this childhood-onset, slowly progressive condition, loss of NR2E3 function leads to an excess of S-cone photoreceptors and to a lack of rod photoreceptors. Notably, a unique, dominantly acting NR2E3 missense variant, c.166G>A (p.Gly56Arg) causes autosomal dominant retinitis pigmentosa.