NR2E3 and enhanced S-cone syndrome: Conversely, loss-of-function variants in NRL have been found in patients affected by autosomal recessive clumped pigmentary retinal degeneration, which resembles the clinical phenotype caused by autosomal recessive variants in NR2E3, also known as enhanced S-cone syndrome (ESCS, OMIM #268100) [16,21,22,23,24].