Retinal abnormalities in β-thalassemia major.
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.
Department of Ophthalmology, F. M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, Philadelphia, Pennsylvania, USA; Department of Ophthalmology, Albany Medical College, Albany, New York, USA.
Devang L
DL
Bhoiwala
Department of Ophthalmology, F. M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, Philadelphia, Pennsylvania, USA. Electronic address: jdunaief@mail.med.upenn.edu.
Joshua L
JL
Dunaief
D000077543:Deferiprone; D003676:Deferoxamine / Q000627:therapeutic use; D006801:Humans; D007502:Iron Chelating Agents / Q000627:therapeutic use; D019190:Iron Overload / Q000209:etiology / Q000517:prevention & control; D011728:Pyridones / Q000627:therapeutic use; D012164:Retinal Diseases / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D065227:Transfusion Reaction; D017086:beta-Thalassemia / Q000150:complications* / Q000175:diagnosis / Q000628:therapy
D007502:Iron Chelating Agents; D011728:Pyridones; D000077543:Deferiprone; D003676:Deferoxamine
PXE-like syndrome; beta-thalassemia major; deferiprone; desferrioxamine retinopathy; hepcidin; iron; iron overload; pseudoxanthoma elasticum