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NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)
Human Mutation, 09/02/09

Schorderet DF et al. – The authors propose a structural localization of mutated residues. The high variability of clinical phenotypes observed in patients affected by NR2E3–linked retinal degenerations may be caused by different disease mechanisms, including absence of DNA–binding, altered interactions with transcriptional coregulators, and differential activity of modifier genes.

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