congenital stationary night blindness type 1 (CSNB1)

Epidemiology

rare

Clinical manifestations

• impaired scotopic vision
• myopia
• hyperopia
• nystagmus & reduced visual acuity

Diagnostic procedures

• electroretinogram:
  • absence of rod b-wave but largely normal cone amplitudes

More general terms

• congenital stationary night blindness

More specific terms

• congenital stationary night blindness type 1 autosomal dominant; rhodopsin-related congenital stationary night blindness (CSNBAD1)
• congenital stationary night blindness type 1 X-linked (XLCSNB)
• congenital stationary night blindness type 1B (CSNB1B)