Night Blindness, Congenital Stationary, Type 1a; Csnb1a

Description

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 Riazuddin et al., 2010). Additionally, Schubert-Bornschein CSNB can be subdivided into 'complete' and 'incomplete' forms (summary by Riazuddin et al., 2010).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.Bijveld et al. (2013) noted that the term 'incomplete' CSNB refers to the less-impaired rod system function in CSNB2, whereas the more severely impaired cone system function results in a greater decrease in visual acuity, with a greater impact on a patient's daily life activities than the impairment in CSNB1. Thus, patients with so-called 'incomplete CSNB' actually experience more visual restrictions than those with 'complete CSNB,' which can be misleading to patients and their parents. Genetic Heterogeneity of Congenital Stationary Night BlindnessAutosomal recessive forms of complete CSNB have been reported: CSNB1B (OMIM ), caused by mutation in the GRM6 gene (OMIM ); CSNB1C (OMIM ), caused by mutation in the TRPM1 gene (OMIM ); CSNB1D (OMIM ), caused by mutation in the SLC24A1 gene (OMIM ); and CSNB1E (OMIM ), caused by mutation in the GPR179 gene (OMIM ); CSNB1F (OMIM ), caused by mutation in the LRIT3 gene (OMIM ); CSNB1G (OMIM ), caused by mutation in the GNAT1 gene (OMIM ); and CSNB1H (OMIM ), caused by mutation in the GNB3 gene (OMIM ).Autosomal dominant forms of complete CSNB that have been reported include CSNBAD1 (OMIM ), caused by mutation in the RHO gene (OMIM ); CSNBAD2 (OMIM ), caused by mutation in the PDE6B gene (OMIM ); and CSNBAD3 (OMIM ), caused by mutation in the GNAT1 gene (OMIM ).In addition, an X-linked recessive form of incomplete CSNB (CSNB2A ), caused by mutation in the CACNA1F gene (OMIM ), has been reported.A form of autosomal recessive CSNB in which all other visual functions are normal is designated Oguchi disease: Oguchi type 1 (OMIM ) is caused by mutation in the SAG gene (OMIM ), and Oguchi type 2 (OMIM ) is caused by mutation in the RHOK gene (GRK1 ).In 101 Dutch patients from 72 families diagnosed with CSNB, Bijveld et al. (2013) screened 6 known CSNB-associated genes and identified mutations in 94 patients. Of the 39 patients with CSNB1, 20 (51%) had mutations in the NYX gene, 10 (26%) in TRPM1, 4 in GRM6, and 2 in GPR179; no mutations were detected in 3 of these patients. Of the 62 patients diagnosed with CSNB2, 55 (89%) had mutations in the CACNA1F gene; no mutations were detected in 4 of these patients. Bijveld et al. (2013) stated that the electrophysiologic distinction between CSNB types 1 and 2 was thus confirmed by DNA analysis in 93% of the patients. In addition, 3 patients from the CSNB cohort, including 2 Dutch sibs originally reported by Littink et al. (2009), were found to be homozygous for a nonsense mutation in the CABP4 gene and to exhibit a distinct phenotype that Littink et al. (2009) designated 'congenital cone-rod synaptic disorder' (CRSD ).

Clinical Features

Top most frequent phenotypes and symptoms related to Night Blindness, Congenital Stationary, Type 1a; Csnb1a

  • Myopia
  • Blindness
  • Nyctalopia
  • Retinal degeneration
  • Ophthalmoplegia
  • Hypermetropia
  • Esotropia
  • High myopia
  • Exotropia
  • External ophthalmoplegia
And another 8 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Night Blindness, Congenital Stationary, Type 1a; Csnb1a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Congenital Stationary Night Blindness Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, GRK1, TRPM1, GNAT1, CABP4, NYX, GRM6, RDH5, GNB3, LRIT3, GPR179
Specificity
7 %
Genes
100 %
NYX.

By Institute for Human Genetics University Clinic Freiburg in Germany.

NYX
Specificity
100 %
Genes
100 %
NYX mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

NYX
Specificity
100 %
Genes
100 %
Night blindness, congenital stationary 1A, X-linked (sequence analysis of NYX gene).

By CGC Genetics in Portugal.

NYX
Specificity
100 %
Genes
100 %
Night blindness, congenital stationary (NGS panel of 13 genes).

By CGC Genetics in Portugal.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, GRK1, TRPM1, GNAT1, NYX, GRM6, GNB3, LRIT3, GPR179
Specificity
8 %
Genes
100 %
Night blindness, congenital stationary (NGS panel of 13 genes).

By CGC Genetics in Portugal.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, GRK1, TRPM1, GNAT1, NYX, GRM6, GNB3, LRIT3, GPR179
Specificity
8 %
Genes
100 %
X-Linked Complete Congenital Stationary Night Blindness (CSNB1) via NYX Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NYX
Specificity
100 %
Genes
100 %
Congenital Stationary Night Blindness Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CHM, CACNA1F, SAG, RPE65, RHO, PDE6B, SLC24A1, TRPM1, CACNA2D4, GNAT1, CABP4, NYX, GRM6, RDH5, LRIT3, GPR179
Specificity
7 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
Night blindness, congenital stationary type 1A.

By Centogene AG - the Rare Disease Company in Germany.

NYX
Specificity
100 %
Genes
100 %
Congenital Stationary Night Blindness Panel.

By CeGaT GmbH in Germany.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, GRK1, TRPM1, CACNA2D4, GNAT1, CABP4, NYX, GRM6, LRIT3, GPR179, RBP4
Specificity
7 %
Genes
100 %
Single gene testing NYX.

By CeGaT GmbH in Germany.

NYX
Specificity
100 %
Genes
100 %
Congenital Stationary Night Blindness.

By Asper Biogene Asper Biogene LLC in Estonia.

CACNA1F, SAG, RHO, PDE6B, GRK1, TRPM1, GNAT1, CABP4, NYX, GRM6
Specificity
10 %
Genes
100 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
100 %
Congenital Stationary Night Blindness panel.

By Molecular Vision Laboratory in United States.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, GRK1, TRPM1, GNAT1, CABP4, NYX, GRM6, RDH5, LRIT3, GPR179
Specificity
8 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
100 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
100 %
Congenital Stationary Night Blindness: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, TRPM1, CACNA2D4, GNAT1, CABP4, NYX, GRM6, RDH5, LRIT3, GPR179, RBP4
Specificity
7 %
Genes
100 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, LRP5, COL2A1, PAX6, CHM, RP1, OPA1, ELOVL4, ABCA4, CACNA1F, NDP, OTX2, CNGB3, KCNJ13, CEP290, CLRN1, TTC8 , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
Congenital Stationary Night Blindness: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, TRPM1, CACNA2D4, GNAT1, CABP4, NYX, GRM6, RDH5, LRIT3, GPR179, RBP4
Specificity
7 %
Genes
100 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
NYX.

By Fulgent Genetics Fulgent Genetics in United States.

NYX
Specificity
100 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
100 %
Congenital Stationary Night Blindness Panel.

By Blueprint Genetics in Finland.

CACNA1F, SAG, RPE65, RLBP1, RHO, PDE6B, GRK1, TRPM1, CACNA2D4, GNAT1, CABP4, NYX, GRM6, CYP4V2, RDH5, LRIT3, GPR179
Specificity
6 %
Genes
100 %
NIGHT BLINDNESS, CONGENITAL STATIONARY (X-LINKED).

By Laboratorio de Genetica Clinica SL in Spain.

CACNA1F, NYX
Specificity
50 %
Genes
100 %
X-Linked Congenital Stationary Night Blindness , Sequencing NYX Gene.

By Reference Laboratory Genetics in Spain.

NYX
Specificity
100 %
Genes
100 %
Congenital Stationary Night Blindness , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, GRK1, TRPM1, GNAT1, CABP4, NYX, GRM6, RDH5, GPR179
Specificity
8 %
Genes
100 %

Alternate names

Night Blindness, Congenital Stationary, Type 1a; Csnb1a Is also known as csnb, complete, x-linked, night blindness, congenital stationary, with myopia, hemeralopia-myopia, myopia-night blindness;nbm1.


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VON WILLEBRAND DISEASE, TYPE 2; VWD2