Conditions / Eye

achromatopsia 4

info ยท Eye

An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13.

Signs and symptoms

  • Nystagmus
  • Photophobia
  • Visual impairment
  • Achromatopsia

Also known as: ACHM4