Conditions / Eye

Leber congenital amaurosis 16

info · Eye · ICD-10: H35.5

A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37.

Signs and symptoms

  • Nystagmus
  • Cataract
  • Reduced visual acuity
  • Nyctalopia
  • Photophobia
  • Visual impairment
  • Optic disc pallor
  • Strabismus
  • Visual field defect

Also known as: LCA16