A homozygous NRL variant (c.339C>G; p.Try113*) underlies enhanced-S-cone syndrome in the United Arab Emirates and is associated with an electronegative electroretinogram.

Abstract excerpt

INTRODUCTION: Enhanced S-cone syndrome (ESCS) is usually from biallelic pathogenic variants in NR2E3 (nuclear receptor subfamily 2 group E member 3). A less common cause is biallelic pathogenic variants in NRL (neural retina leucine zipper). When recordable, the ESCS electroretinogram (ERG) is pathognomonic. The diagnostic ERG features of ESCS do not include an electronegative waveform. The purpose of this study...

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