Related Experiment Video
Updated: Apr 16, 2026
Retinal Pathophysiological Evaluation in a Rat Model
Published on: May 6, 2022
Unusual retinopathy associated with hemochromatosis
Jennyfer Zerbib1, Vincent Pierre-Kahn, Anne Sikorav
1*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.
Purpose:
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.
Conclusion:
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.
