A New Gene for Congenital Stationary Night Blindness

Complete congenital stationary night blindness (cCSNB) is a form of inherited retinal disease (IRD) that entails lifelong nyctalopia, often accompanied by high myopia, reduced visual acuity, and often nystagmus. While retinal examination and imaging are unremarkable, other than changes associated with high myopia, electroretinogram (ERG) findings are highly characteristic. The condition is nonprogressive, although myopia-associated complications may arise later in life. To date, there have been a handful of genes associated with this condition: one is X-linked (NYX); the others are associated with autosomal recessive inheritance (TRPM1, GRM6, GPR179, LRIT3).