Conditions / Eye

Finnish type amyloidosis

info ยท Eye

An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and with symptoms of corneal lattice dystrophy, with symptoms of bilateral

An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and with symptoms of corneal lattice dystrophy, with symptoms of bilateral facial paralysis, with symptoms of cutis laxa.

Signs and symptoms

  • Cardiac amyloidosis
  • Stage 5 chronic kidney disease
  • Nephrotic syndrome
  • Renal glomerular amyloid deposition
  • Cutis laxa
  • Lattice corneal dystrophy
  • Bulbar palsy
  • Polyneuropathy
  • Renal insufficiency
  • Decreased heart rate variability

Also known as: AGel amyloidosis; AMYLOIDOSIS, MERETOJA TYPE; Lattice corneal dystrophy type II; gelsolin amyloidosis