title: Unusual retinopathy associated with hemochromatosis.
abstract: OBJECTIVE
  To describe unusual retinal findings of a patient affected by hemochromatosis.
  
  
  METHODS
  Case report of a 49-year-old patient who presented a progressive loss of vision. Fundus photography, fluorescein angiography, full-field electroretinogram, autofluorescence imaging, and spectral domain optical coherence tomography were performed. The patient was known to be homozygous for the C282Y mutation in the HFE gene.
  
  
  RESULTS
  Visual acuity was measured at 20/20 on his right eye and 20/25 on his left eye. Retinal imaging showed alterations of the retinal pigment epithelium clearly visible on fundus autofluorescence and fluorescein angiography. The spectral domain optical coherence tomography showed retinal pigmentary epithelial atrophy associated with irregularities and focal interruption of the ellipsoid zone. A thin retina was also observed in the foveolar region associated to a thickened choroid. Full-field electroretinogram showed a decrease of rods and cones responses.
  
  
  CONCLUSIONS
  Here, the authors describe the retinal findings of a patient affected by hemochromatosis, characterized by unusual retinal pigment epithelium changes associated to altered visual function. The authors hypothesize that the retinopathy could be linked to hemochromatosis because of the pathophysiology of iron homeostasis and the toxicity of iron overload for the photoreceptors.
authors.affiliation: *Department of Ophthalmology, Hopital Intercommunal de Creteil, University Paris Est, Paris, France; †Department of Ophthalmology, Centre Explore Vision, Paris, France; ‡Department of Ophthalmology, Hôpital Foch, Suresnes, France; §Department of Cardio Vascular Surgery, Hôpital Européen HEGP, Paris, France; and ¶Department of Ophthalmology, CRC-CRB, Hopital Intercommunal de Creteil, Creteil, France.
authors.forename: Jennyfer
authors.initials: J
authors.lastname: Zerbib
authors.forename: Vincent
authors.initials: V
authors.lastname: Pierre-Kahn
authors.forename: Anne
authors.initials: A
authors.lastname: Sikorav
authors.forename: Hassiba
authors.initials: H
authors.lastname: Oubraham
authors.forename: David
authors.initials: D
authors.lastname: Sayag
authors.forename: Françoise
authors.initials: F
authors.lastname: Lobstein
authors.forename: Simone
authors.initials: S
authors.lastname: Massonnet-Castel
authors.forename: Patricia
authors.initials: P
authors.lastname: Haymann-Gawrilow
authors.forename: Eric H
authors.initials: EH
authors.lastname: Souied
mesh_terms: D002829:Choroid / Q000473:pathology; D004596:Electroretinography; D005451:Fluorescein Angiography; D005584:Fovea Centralis / Q000473:pathology; D005654:Fundus Oculi; D006432:Hemochromatosis / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male; D008875:Middle Aged; D012164:Retinal Diseases / Q000175:diagnosis / Q000209:etiology*; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D041623:Tomography, Optical Coherence; D014792:Visual Acuity