Conditions / Eye

congenital nystagmus 6

info ยท Eye

A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2.

Signs and symptoms

  • Reduced visual acuity
  • Astigmatism
  • Horizontal nystagmus
  • Retinal pigment epithelial mottling
  • Amblyopia
  • Fundus hypopigmentation

Also known as: NYS6; X-linked congenital nystagmus 6