Conditions / Genetic

granular corneal dystrophy 2

info ยท Genetic

An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal

An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface.

Signs and symptoms

  • Reduced visual acuity
  • Visual impairment
  • Lattice corneal dystrophy

Also known as: CGD2; avellino corneal dystrophy; combined granular-lattice corneal dystrophy; corneal dystrophy, Avellino type; granular corneal dystrophy type 2