Abstract
Purpose
To report a case of deferoxamine-induced retinopathy characterized by electroretinography (ERG), optical coherence tomography angiography (OCT-A), and other multimodal imaging.
Methods
This is an observational case report of one patient. Full-field ERG was performed. OCT-A, spectral-domain optical coherence tomography (SD-OCT), color fundus photography, and fundus autofluorescence were used to characterize the retinopathy induced by deferoxamine use.
Results
A 64-year-old man with a history of β-thalassemia intermedia presented with worsening visual acuity, nyctalopia, and electronegative ERG. OCT-A revealed atrophy of the choriocapillaris in areas of hypoautofluorescence, corresponding to regions of retinal atrophy. SD-OCT showed disruption of the ellipsoid zone, granular hyperreflective deposits within the retinal pigment epithelium, thinning of the retinal layers, and extensive choroidal sclerosis and atrophy of the retinal pigment epithelium.
Conclusion
Deferoxamine-induced retinopathy can manifest with electronegative maximal ERG responses, and OCT-A can be used to detect deferoxamine toxicity.
References
Brittenham GM (2011) Iron-chelating therapy for transfusional iron overload. N Engl J Med 364:146–156
Bayanzay K, Alzoebie L (2016) Reducing the iron burden and improving survival in transfusion-dependent thalassemia patients: Current perspectives. J Blood Med 7:159–169
Gelman R, Kiss S, Tsang SH (2014) Multimodal imaging in a case of deferoxamine-induced maculopathy. Retin Cases Brief Rep 8:306–309
Di Nicola M, Barteselli G, Dell’Arti L, Ratiglia R, Viola F (2015) Functional and structural abnormalities in deferoxamine retinopathy: a review of the literature. Biomed Res Int 2015:249617
Viola F, Barteselli G, Dell’arti L, Vezzola D, Villani E, Mapelli C, Zanaboni L, Cappellini MD, Ratiglia R (2012) Abnormal fundus autofluorescence results of patients in long-term treatment with deferoxamine. Ophthalmology 119:1693–1700
El-Shazly AA, Ebeid WM, Elkitkat RS, Deghedy MR (2017) Electroretinographic and visual-evoked potential changes in relation to chelation modality in children with thalassemia. Retina 37:1168–1175
Haimovici R, D’Amico DJ, Gragoudas ES, Sokol S (2002) Deferoxamine retinopathy study G: the expanded clinical spectrum of deferoxamine retinopathy. Ophthalmology 109:164–171
Wu CH, Yang CP, Lai CC, Wu WC, Chen YH (2014) Deferoxamine retinopathy: spectral domain-optical coherence tomography findings. BMC Ophthalmol 14:88
Zeitz C, Robson AG, Audo I (2015) Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms. Prog Retin Eye Res 45:58–110
Audo I, Robson AG, Holder GE, Moore AT (2008) The negative erg: clinical phenotypes and disease mechanisms of inner retinal dysfunction. Surv Ophthalmol 53:16–40
Raghuram A, Hansen RM, Moskowitz A, Fulton AB (2013) Photoreceptor and postreceptor responses in congenital stationary night blindness. Invest Ophthalmol Vis Sci 54:4648–4658
Tsui I, Casper D, Chou CL, Tsang SH (2008) Electronegative electroretinogram associated with topiramate toxicity and vitelliform maculopathy. Doc Ophthalmol 116:57–60
Spaide RF, Klancnik JM Jr, Cooney MJ (2015) Retinal vascular layers imaged by fluorescein angiography and optical coherence tomography angiography. JAMA Ophthalmol 133:45–50
Liaska A, Petrou P, Georgakopoulos CD, Diamanti R, Papaconstantinou D, Kanakis MG, Georgalas I (2016) Beta-thalassemia and ocular implications: a systematic review. BMC Ophthalmol 16:102
Reddy S, Iturralde D, Meyerle C, Gross NE, Yannuzzi LA (2007) Fundus autofluorescence in retinopathy caused by deferoxamine toxicity. Retin Cases Brief Rep 1:120–122
Munk MR, Giannakaki-Zimmermann H, Berger L, Huf W, Ebneter A, Wolf S, Zinkernagel MS (2017) Oct-angiography: a qualitative and quantitative comparison of 4 oct-a devices. PLoS ONE 12:e0177059
Merchant RH, Punde H, Thacker N, Bhatt D (2017) Ophthalmic evaluation in beta-thalassemia. Indian J Pediatr 84:509–514
Wang W, Knovich MA, Coffman LG, Torti FM, Torti SV (2010) Serum ferritin: past, present and future. Biochim Biophys Acta 1800:760–769
Klettner A, Koinzer S, Waetzig V, Herdegen T, Roider J (2010) Deferoxamine mesylate is toxic for retinal pigment epithelium cells in vitro, and its toxicity is mediated by p38. Cutan Ocul Toxicol 29:122–129
Kurihara T, Westenskow PD, Gantner ML, Usui Y, Schultz A, Bravo S, Aguilar E, Wittgrove C, Friedlander M, Paris LP, Chew E, Siuzdak G, Friedlander M (2016) Hypoxia-induced metabolic stress in retinal pigment epithelial cells is sufficient to induce photoreceptor degeneration. Elife 5:e14319. https://doi.org/10.7554/eLife.14319
Acknowledgements
The Jonas Children’s Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory are supported by the National Institutes of Health [P30EY019007, R01EY018213, R01EY024698, R01EY026682, R21AG050437], National Cancer Institute Core [5P30CA013696], the Research to Prevent Blindness (RPB) Physician-Scientist Award, unrestricted funds from RPB, New York, NY, USA. R. J. is supported by the RPB medical student eye research fellowship. S. H. T. is a member of the RD-CURE Consortium and is supported by the Tistou and Charlotte Kerstan Foundation, the Schneeweiss Stem Cell Fund, New York State [C029572], and the Gebroe Family Foundation. VBM is supported by NIH Grants [R01EY024665, R01EY025225, R01EY024698, R21AG050437, P30EY026877], and Research to Prevent Blindness (RPB).
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R.J. collected and interpreted patient data and images. R.J. and K.S.P. composed the manuscript. S.H.T., A.G.B., and V.B.M. conceived the experimental design and approved the final interpretation of the data.
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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.
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Jauregui, R., Park, K.S., Bassuk, A.G. et al. Deferoxamine-induced electronegative ERG responses. Doc Ophthalmol 137, 15–23 (2018). https://doi.org/10.1007/s10633-018-9640-3
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DOI: https://doi.org/10.1007/s10633-018-9640-3