GTR Home > Conditions/Phenotypes > Congenital stationary night blindness, type 1A

Disease characteristics

Excerpted from the GeneReview: X-Linked Congenital Stationary Night Blindness
X-linked congenital stationary night blindness (CSNB) is characterized by: non-progressive retinal findings of reduced visual acuity ranging from 20/30 to 20/200; defective dark adaptation; refractive error, most typically myopia ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D) but occasionally hyperopia; nystagmus; strabismus; normal color vision; and normal fundus examination. Two overlapping, yet distinct, phenotypes are recognized: Complete CSNB (CSNB1A), caused by mutations in NYX (45%). Incomplete CSNB (CSNB2A), caused by mutations in CACNA1F (55%).

Available tests

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Associated genes

Clinical features

  • Severe Myopia
  • Congenital stationary night blindness
  • Hemeralopia

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