Novel Mutations in Enhanced S-cone Syndrome

Enhanced S-cone syndrome (ESCS) is a rare and unique retinal dystrophy with a pattern of autosomal-recessive inheritance. Patients with ESCS show night blindness and high sensitivity to short-wavelength light, because of the 2-fold increased number of short-wavelength-sensitive cones (S cones) with absence of rods in the retina. Since the first discovery of mutations in the NR2E3 gene on chromosome 15q23 in patients with ESCS, >40 mutations have been reported as causes of ESCS and allied diseases (, available online at http://aaojournal.org). (Source: Ophthalmology)
Source: Blindness