Enhanced S-Cone Syndrome (NR2E3)
Enhanced S-cone syndrome, also known as Goldmann-Favre syndrome, is an autosomal recessive disease caused by pathogenic variants in the gene NR2E3. While it is found across multiple ethnicities, the presence of a founder mutation in people of Ashkenazi Jewish descent may increase the prevalence in this population. Enhanced S-cone syndrome results in an increased sensitivity to blue light. Onset is in childhood and begins with night blindness. Retinal degeneration, loss of peripheral vision, and decrease of visual acuity is progressive, but patients do not go completely blind. Development of cataracts is common. Life expectancy is not affected, and no genotype-phenotype correlation has been reported.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.