Human congenital stationary night blindness (CSNB) is a group of non-progressive retinal dystrophies characterized by night blindness from birth and other symptoms such as myopia, hyperopia, reduced visual acuity and occasionally accompanied by nystagmus, and optic disc hypoplasia (Heonand and Musarella, 1994). CSNB can be inherited on autosomal dominant, autosomal recessive and X-linked recessive mode. According to the clinical and genetic studies, X-linked recessive CSNB (XLCSNB) can be divided into two subtypes: complete (CSNB1; MIM 310500) and incomplete (CSNB2; MIM 300710). The distinction between the two subtypes of XLCSNB is in electroretinogram (ERG) and in genetic basis.
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Sui, R., Li, F., Zhao, J., Jiang, R. (2008). Clinical and Genetic Characterization of a Chinese Family with CSNB1. In: Anderson, R.E., LaVail, M.M., Hollyfield, J.G. (eds) Recent Advances in Retinal Degeneration. Advances in Experimental Medicine and Biology, vol 613. Springer, New York, NY. https://doi.org/10.1007/978-0-387-74904-4_28
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