Conditions / Eye

Leber congenital amaurosis 14

info · Eye · ICD-10: H35.5

A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31.

Signs and symptoms

  • Undetectable electroretinogram
  • Nyctalopia
  • Pallor
  • Nystagmus
  • Photophobia
  • Reduced visual acuity
  • Falls
  • Rod-cone dystrophy
  • Congenital blindness
  • Optic disc pallor

Also known as: LCA14