Enhanced S-cone syndrome and NR2E3-associated disorders

Escher, Pascal; Schuerch, Kaspar; Zinkernagel, Martin S.; Tran, Viet Hoai; Munier, Francis Louis (2022). Enhanced S-cone syndrome and NR2E3-associated disorders. In: Black, Graeme C. M.; Ashworth, Jane L.; Sergouniotis, Panagiotis I. (eds.) Clinical Ophthalmic Genetics and Genomics (pp. 176-180). Elsevier

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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.

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