Diagnostics

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Congenital Stationary Night Blindness Panel

The Congenital Stationary Night Blindness Panel is a comprehensive next-generation sequencing (NGS) panel that can be used to confirm a clinical diagnosis of congenital stationary night blindness or identify at-risk individuals.

Congenital stationary night blindness is a disorder that affects the retina’s ability to perceive objects in low light. Individuals with this condition may have no other visual problems, or may have reduced visual acuity, nystagmus, myopia, or strabismus. The condition is typically present from birth, and usually does not progress as an individual ages.

Included Disorders

This panel includes genes associated with:

  • Congenital stationary night blindness
  • Cone-rod dystrophy
  • Aland Island Eye disease
  • Oguchi Disease
  • Retinitis pigmentosa
  • Crystalline corneoretinal dystrophy
  • Retinitis punctata albescens

Prevalence

Congenital stationary night blindness is a rare condition, although its exact prevalence is unknown.

Inheritance and Penetrance

Congenital stationary night blindness is inherited in autosomal dominant, autosomal recessive, and X-linked fashions.

Clinical Sensitivity

Disease causing variants can be identified in approximately 90% of congenital stationary night blindness cases (Bijveld et al, 2013). The Congenital Stationary Night Blindness Panel includes all of the common genetic causes related to this disease.

Methodology and Analytical Sensitivity

Next-generation sequencing technology is used to test clinically relevant portions of each gene, including coding exons, adjacent flanking bases, and selected introns/noncoding variants. Pathogenic and likely pathogenic variants are confirmed by orthogonal methods. Copy number variants, including intragenic deletions and duplications are detected to a resolution of a single exon. To request analysis of a specific single exon copy number variant, please contact our Client Services team prior to ordering. Analytical sensitivity and specificity of the assay is >99%.

Indications for Testing

  • Confirmation of a clinical diagnosis
  • Risk assessment for asymptomatic family members of proband with molecular diagnosis of Congenital Stationary Night Blindness

Included Genes (16)

CABP4 GPR179 NYX RLBP1 CACNA1F GRK1 PDE6B RPE65
CYP4V2 GRM6 RDH5 SAG GNAT1 LRIT3 RHO TRPM1

 

Additions to the Congenital Stationary Night Blindness Panel

Emerging evidence genes can also be added to the Congenital Stationary Night Blindness Panel. These genes do not have a clear association with congenital stationary night blindness, but emerging evidence suggests that they may play a role in disease pathogenesis:

Emerging Evidence Genes (2)

SLC24A1 CACNA2D4

 

References

  1. Bijveld MM, Florijn RJ, Bergen AA, et al. Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. Ophthalmology. 2013;120(10):2072-81.