Congenital stationary night blindness, type 1A

Common Name(s)

Congenital stationary night blindness, type 1A

Congenital stationary night blindness (CSNB) is a clinically and genetically heterogeneous group of nonprogressive retinal disorders that can be characterized by impaired night vision, decreased visual acuity, nystagmus, myopia, and strabismus. CSNB can be classified into 2 groups based on electroretinography (ERG) findings: the Schubert-Bornschein type is characterized by an ERG in which the b-wave is smaller than the a-wave, whereas the Riggs type is defined by proportionally reduced a- and b-waves. In addition, Schubert-Bornschein CSNB is associated with decreased visual acuity, myopia, and nystagmus, whereas in Riggs CSNB patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus (summary by {31:Riazuddin et al., 2010}). Additionally, Schubert-Bornschein CSNB can be subdivided into 'complete' and 'incomplete' forms (summary by {31:Riazuddin et al., 2010}). {35:Van Genderen et al. (2009)} noted that standard flash ERG distinguishes a 'complete' form, also known as type 1 CSNB, from an 'incomplete' form, also known as type 2 CSNB (see CSNB2A, {300071}). The complete form is characterized by the complete absence of rod pathway function, whereas the incomplete form is due to impaired rod and cone pathway function. Complete CSNB results from postsynaptic defects in depolarizing or ON bipolar cell signaling, whereas the hyperpolarizing or OFF bipolar cell pathway is intact. Genetic Heterogeneity of Congenital Stationary Night Blindness Autosomal recessive forms of complete CSNB have been reported: CSNB1B ({257270}), caused by mutation in the GRM6 gene ({604096}); CSNB1C ({613216}), caused by mutation in the TRPM1 gene ({603576}); CSNB1D ({613830}), caused by mutation in the SLC24A1 gene ({603617}); and CSNB1E ({614565}), caused by mutation in the GPR179 gene ({614515}). Autosomal dominant forms of complete CSNB that have been reported include CSNBAD1 ({610445}), caused by mutation in the RHO gene ({180380}); CSNBAD2 ({163500}), caused by mutation in the PDE6B gene ({180072}); and CSNBAD3 ({610444}), caused by mutation in the GNAT1 gene ({139330}). In addition, X-linked and autosomal recessive forms of incomplete CSNB have been reported: CSNB2A ({300071}), caused by mutation in the CACNA1F gene ({300110}); and CSNB2B ({610427}), caused by mutation in the CABP4 gene ({608965}). A form of autosomal recessive CSNB in which all other visual functions are normal is designated Oguchi disease: Oguchi type 1 ({258100}) is caused by mutation in the SAG gene ({181031}), and Oguchi type 2 ({613411}) is caused by mutation in the RHOK gene (GRK1; {180381}).
 

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