Retinal abnormalities in β-thalassemia major

Surv Ophthalmol. 2016 Jan-Feb;61(1):33-50. doi: 10.1016/j.survophthal.2015.08.005. Epub 2015 Aug 29.


Patients with beta (β)-thalassemia (β-TM: β-thalassemia major, β-TI: β-thalassemia intermedia) have a variety of complications that may affect all organs, including the eye. Ocular abnormalities include retinal pigment epithelial degeneration, angioid streaks, venous tortuosity, night blindness, visual field defects, decreased visual acuity, color vision abnormalities, and acute visual loss. Patients with β-thalassemia major are transfusion dependent and require iron chelation therapy to survive. Retinal degeneration may result from either retinal iron accumulation from transfusion-induced iron overload or retinal toxicity induced by iron chelation therapy. Some who were never treated with iron chelation therapy exhibited retinopathy, and others receiving iron chelation therapy had chelator-induced retinopathy. We will focus on retinal abnormalities present in individuals with β-thalassemia major viewed in light of new findings on the mechanisms and manifestations of retinal iron toxicity.

Keywords: PXE-like syndrome; beta-thalassemia major; deferiprone; desferrioxamine retinopathy; hepcidin; iron; iron overload; pseudoxanthoma elasticum.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Deferiprone
  • Deferoxamine / therapeutic use
  • Humans
  • Iron Chelating Agents / therapeutic use
  • Iron Overload / etiology
  • Iron Overload / prevention & control
  • Pyridones / therapeutic use
  • Retinal Diseases / diagnosis
  • Retinal Diseases / etiology*
  • Retinal Diseases / therapy
  • Transfusion Reaction
  • beta-Thalassemia / complications*
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / therapy


  • Iron Chelating Agents
  • Pyridones
  • Deferiprone
  • Deferoxamine