Unusual Retinopathy Associated With Hemochromatosis

Zerbib, Jennyfer; Pierre-Kahn, Vincent; Sikorav, Anne; Sayag, D.; Lobstein, Françoise; Massonnet-Castel, Simone; Haymann-Gawrilow, Patricia; Souied, Eric H.

doi:10.1097/icb.0000000000000135

Cited by 10 publications

(10 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Independent of the blood-retina barrier, human RPE cells have an abundance of transferrin receptors which permit endocytosis-mediated iron uptake from the choroid [ 11 ]. Of particular note, our patients’ ocular characteristics are comparable those seen in hemochromatosis [ 16 ], in experimental intraocular iron toxicity [ 17 , 18 ] and in intraocular ferrous foreign body retention, where the functional deficit is partially reversible [ 19 ], as was the visual loss in our patient 2.…”

Section: Discussionsupporting

confidence: 76%

Iron overload and iron chelating agent exposure in anemia-associated outer retinal degeneration: a case report and review of the literature

et al. 2021

View full text Add to dashboard Cite

Background Deferoxamine retinopathy is the informally designated term used to describe a characteristic pattern of outer retinal degeneration in iron-overloaded chronic anemia patients who are treated with deferoxamine. We hypothesize that insufficiently treated iron overloading and not only deferoxamine is the cause of the retinal degeneration. Our case report is based on exposure histories of two anemia patients and literature review. Case presentation Both anemia patients presented with bilateral visual loss secondary to photoreceptor and retinal pigment epithelium degeneration. Chart review showed that visual loss came after a year-long slow, and rather monotonous rise in plasma ferritin concentrations, with no obvious relation to iron chelator exposure. In one patient, the onset of symptomatic visual loss came after a bout of fever followed by two additional febrile episodes, all accompanied by plasma ferritin spikes. Adjustment of iron chelation therapy did not improve visual function. Experimental studies clearly show that both systemic and intraocular exposure to iron ions can induce retinal degeneration. Conclusion The available evidence indicates that retinal degeneration in chronic anemia patients treated by deferoxamine is cause by insufficient iron chelation, not by deferoxamine. The actual role of iron chelating agents may be to promote a long enough survival to allow the slow development of retinal siderosis.

show abstract

Section: Discussionsupporting

confidence: 76%

Iron overload and iron chelating agent exposure in anemia-associated outer retinal degeneration: a case report and review of the literature

et al. 2021

View full text Add to dashboard Cite

show abstract

“…It has to be mentioned that in juvenile HH caused by a dramatic loss of hepcidin expression, organ iron-overload (heart, liver, gonads) is observed early in life [ 47 ]. Incidence of retinal damage in HH is low [ 48 ], while mice models with FPN knockout show early and more prominent retinal damage compared to systemic hepcidin knockout [ 49 ]. This suggests that local FPN in retina is more important for iron homeostasis than systemic hepcidin levels.…”

Section: Hepcidin Production and Action In The Brainmentioning

confidence: 99%

Hepcidin, an emerging and important player in brain iron homeostasis

Vela

2018

J Transl Med

View full text Add to dashboard Cite

Hepcidin is emerging as a new important factor in brain iron homeostasis. Studies suggest that there are two sources of hepcidin in the brain; one is local and the other comes from the circulation. Little is known about the molecular mediators of local hepcidin expression, but inflammation and iron-load have been shown to induce hepcidin expression in the brain. The most important source of hepcidin in the brain are glial cells. Role of hepcidin in brain functions has been observed during neuronal iron-load and brain hemorrhage, where secretion of abundant hepcidin is related with the severity of brain damage. This damage can be reversed by blocking systemic and local hepcidin secretion. Studies have yet to unveil its role in other brain conditions, but the rationale exists, since these conditions are characterized by overexpression of the factors that stimulate brain hepcidin expression, such as inflammation, hypoxia and iron-overload.

show abstract

“…However, retinal pathology has been described in patients with chronic disorders of iron regulation, such as hemochromatosis and aceruloplasminemia (Dunaief et al, 2005; Zerbib et al, 2015). In the latter, patients can present with features similar to those found in AMD, such as RPE atrophy and hypertrophy, drusen formation, lipofuscin accumulation, and complement deposition.…”

Section: Discussionmentioning

confidence: 99%

AMD-like retinopathy associated with intravenous iron

Song

Kanu

et al. 2016

Experimental Eye Research

View full text Add to dashboard Cite

Iron accumulation in the retina is associated with the development of age-related macular degeneration (AMD). IV iron is a common method to treat iron deficiency anemia in adults, and its retinal manifestations have not hitherto been identified. To assess whether IV iron formulations can be retina-toxic, we generated a mouse model for iron-induced retinal damage. Male C57BL/6J mice were randomized into groups receiving IV iron-sucrose (+Fe) or 30% sucrose (−Fe). Iron levels in neurosensory retina (NSR), retinal pigment epithelium (RPE), and choroid were assessed using immunofluorescence, quantitative PCR, and the Perls’ iron stain. Iron levels were most increased in the RPE and choroid while levels in the NSR did not differ significantly in +Fe mice compared to controls. Eyes from +Fe mice shared histological features with AMD, including Bruch’s membrane (BrM) thickening with complement C3 deposition, as well as RPE hypertrophy and vacuolization. This focal degeneration correlated with areas with high choroidal iron levels. Ultrastructural analysis provided further detail of the RPE/photoreceptor outer segment vacuolization and Bruch’s membrane thickening. Findings were correlated with a clinical case of a 43-year-old patient who developed numerous retinal drusen, the hallmark of AMD, within 11 months of IV iron therapy. Our results suggest that IV iron therapy may have the potential to induce or exacerbate a form of retinal degeneration. This retinal degeneration shares features with AMD, indicating the need for further study of AMD risk in patients receiving IV iron treatment.

show abstract

Unusual Retinopathy Associated With Hemochromatosis

Cited by 10 publications

References 11 publications

Iron overload and iron chelating agent exposure in anemia-associated outer retinal degeneration: a case report and review of the literature

Iron overload and iron chelating agent exposure in anemia-associated outer retinal degeneration: a case report and review of the literature

Hepcidin, an emerging and important player in brain iron homeostasis

AMD-like retinopathy associated with intravenous iron

Contact Info

Product

Resources

About