Enhanced S-cone syndrome and NR2E3-associated disorders

Escher, PascalPascalEscher0000-0002-8281-2875Schürch, Kaspar WernerKaspar WernerSchürchZinkernagel, Martin SebastianMartin SebastianZinkernagel0000-0003-3447-2359Tran, Viet HoaiViet HoaiTranMunier, Francis LouisFrancis LouisMunierBlack, Graeme C. M.Ashworth, Jane L.Sergouniotis, Panagiotis I.2024-10-262024-10-262022-08-01https://boris-portal.unibe.ch/handle/20.500.12422/172793The 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.en600 - Technology::610 - Medicine & healthEnhanced S-cone syndrome and NR2E3-associated disordersbook_section10.48350/190839