Congenital stationary night blindness is characterized by defective dark adaptation and reduced visual acuity, and is often presented with myopia, nystagmus, and strabismus. Given its similarity to other retinal dystrophies, accurate diagnosis is based on electroretinographic tests. It is inherited following all inheritance patterns: autosomal dominant, autosomal recessive, and sex-linked.

The DBGen Congenital Stationary Night Blind Panel analyzes the coding regions of 20 genes and 3 pathogenic non coding variants.