Abstract
Congenital stationary night blindness (CNSB) is a clinically and genetic diverse group of nonprogressive retinal disorders that is characterized by stable poor vision in low light (night blindness). CNSB can be classified either functionally by electrophysiology or fundus phenotypes. ERG can distinguish a “complete” form or CNSB type 1 with absent rod function, from an “incomplete” form or CNSB type 2 with reduced rod and cone function. Phenotypically, CNSB can have a normal appearing fundus or an abnormal fundus (includes Oguchi’s disease and fundus albipunctatus).
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References and Suggested Reading
Berger W, Kloeckener-Gruissem B, Neidhardt J. The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res. 2010;29(5):335–75.
Boycott K, Pearce W, Musarella M, Weleber R, Maybaum T, Birch D, Miyake Y, Young R, Bech-Hansen N. Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. Am J Hum Genet. 1998;62(4):865–75.
Khouri G, Mets MB, Smith VC, Wendell M, Pass AS. X-linked congenital stationary night blindness: review and report of a family with hyperopia. Arch Ophthalmol. 1988;106:1417–22.
Miyake Y, Yagasaki K, Horiguchi M, Kawase Y, Kanda T. Congenital stationary night blindness with negative electroretinogram: a new classification. Arch Ophthalmol. 1986;104:1013–20.
Peachey NS, Ray TA, Florijn R, Rowe LB, Sjoerdsma T, Contreras-Alcantara S, Baba K, Tosini G, Pozdeyev N, Iuvone PM, Bojang Jr P, Pearring JN, Simonsz HJ, van Genderen M, Birch DG, Traboulsi EI, Dorfman A, Lopez I, Ren H, Goldberg AF, Nishina PM, Lachapelle P, McCall MA, Koenekoop RK, Bergen AA, Kamermans M, Gregg RG. GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012;90(2):331–9.
Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi F, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nat Genet. 2000;26(3):324–7.
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© 2016 Springer International Publishing Switzerland
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Shah, V.S. (2016). Congenital Stationary Night Blindness. In: Medina, C., Townsend, J., Singh, A. (eds) Manual of Retinal Diseases. Springer, Cham. https://doi.org/10.1007/978-3-319-20460-4_24
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DOI: https://doi.org/10.1007/978-3-319-20460-4_24
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