Conditions / Genetic

congenital stationary night blindness 2A

info · Genetic

A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23.

Signs and symptoms

  • Reduced visual acuity
  • ERG: Reduced dark-adapted b-wave amplitude
  • Nystagmus
  • Abnormal amplitude of light-adapted flicker electroretinogram
  • Visual impairment
  • Early-onset non-progressive night blindness
  • Exotropia

Also known as: congenital stationary night blindness 2A X-linked