Night Blindness, Congenital Stationary, Type 2a; Csnb2a

Clinical Features

Phenotypes and symptoms related to Night Blindness, Congenital Stationary, Type 2a; Csnb2a

  • Nystagmus
  • Visual impairment
  • Myopia
  • Blindness
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Nyctalopia
  • Horizontal nystagmus
  • Congenital stationary night blindness

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Night Blindness, Congenital Stationary, Type 2a; Csnb2a Is also known as csnb, incomplete, x-linked, night blindness, congenital stationary, type 2, csnb2.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Night Blindness, Congenital Stationary, Type 2a; Csnb2a Recommended genes panels

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

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Cone-Rod Dystrophy Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, CNNM4, SEMA4A, TULP1, CFAP410, BEST1, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, EYS, ADAM9, CERKL , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Congenital Stationary Night Blindness Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

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

By Institute for Human Genetics University Clinic Freiburg (Germany).

CACNA1F
Specificity
100 %
Genes
100 %
CACNA1F mutation analysis.

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

CACNA1F
Specificity
100 %
Genes
100 %
Aland Island eye disease (sequence analysis of CACNA1F gene).

By CGC Genetics (Portugal).

CACNA1F
Specificity
100 %
Genes
100 %
Cone-rod dystrophy (NGS panel of 36 genes).

By CGC Genetics (Portugal).

RGS9, RPGR, CNNM4, SEMA4A, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, ADAM9, CERKL, CRX , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
100 %
Night blindness, congenital stationary (NGS panel of 13 genes).

By CGC Genetics (Portugal).

RHO, GRK1, SAG, SLC24A1, CACNA1F, LRIT3, GPR179, GNAT1, GNB3, GRM6, TRPM1, NYX, PDE6B
Specificity
8 %
Genes
100 %

You can get up to 45 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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