Night blindness is a feature of many pigmentary and other retinal disorders, most of which are progressive. However, there is also a group of genetically heterogeneous disorders, with generally stable scotopic defects and without RPE changes, known as congenital stationary night blindness (CSNB). At least 10 mutant genes are responsible with phenotypes so similar that genotyping is usually necessary to distinguish them. All are caused by defects in visual signal transduction within rod photoreceptors or in defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. However, the photopic ERG can be abnormal to some degree as well and visual acuity may be subnormal. In the pregenomic era, subtleties of ERG responses were frequently used in an attempt to distinguish different forms of CSNB. Genotyping now enables classification with unprecedented precision.
Congenital stationary night blindness disorders are primarily rod dystrophies presenting early with symptoms of nightblindness and relative sparing of central vision. Nystagmus and photophobia are usually not features. Dyschromatopsia and loss of central acuity can develop later as the cones eventually become dysfunctional as well but these symptoms are much less severe than those seen in cone-rod dystrophies. The amount of pigmentary retinopathy is highly variable.
This disorder (CSNBAD3), one of three autosomal dominant CSNB conditions, is known primarily from a single large family in Southern France. All affected individuals descended from Jean Nougaret from which the eponym is derived. The published pedigree by F. Cunier in 1838 is probably the first illustrating autosomal dominant inheritance of a human disease. Rod a-waves are completely absent suggesting complete lack of rod function. Night vision in dim conditions was reduced but not with bright backgrounds. Daytime vision is normal as is color vision. Rare patients have peripheral pigmentary changes with visual field restriction.
