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.
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
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.
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)
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)
- 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.