Multimodal Imaging in Deferoxamine Retinopathy

Abstract

DFO retinopathy included a variety of pattern dystrophy-like changes or minimal changes affecting the RPE-Bruch membrane-photoreceptor complex. Multimodal imaging demonstrated that fundus changes were more diverse and widespread than expected from ophthalmoscopy. Consistently with previous histologic description of DFO retinopathy, multimodal imaging confirmed that photoreceptor outer-derived retinoids, various fluorophores, and RPE displacement or clumping are involved in DFO retinopathy, finally leading to frank RPE atrophy in most cases of pattern dystrophy-like changes.

Unusual Retinopathy Associated With Hemochromatosis

“…6 On fundus examination, multiple discrete hypopigmented circular lesions over the posterior pole, the midperipheral retina, or around the optic disk were observed associated to multiple confluent hyperreflective deposits on SD-OCT in the different layers: RPE, the ellipsoid zone, and choroid. [6][7][8][9][10] Deferoxamine retinopathy and our case share some similarities: the RPE depigmentation, the fundus autofluorescence features, the thickened choroid, and also the small hyperreflective deposits on SD-OCT.…”

“…5 Besides iron overload, retinopathy induced by deferoxamine has been already described, including visual symptoms such as decreased visual acuity, night blindness, color vision abnormalities, cataract, optic neuropathy, and retinopathy. [6][7][8][9][10] Retinal abnormalities described in the literature were pigmentary degeneration in the macular equatorial regions, RPE atrophy, and bull's eye maculopathy. 6 On fundus examination, multiple discrete hypopigmented circular lesions over the posterior pole, the midperipheral retina, or around the optic disk were observed associated to multiple confluent hyperreflective deposits on SD-OCT in the different layers: RPE, the ellipsoid zone, and choroid.…”

Pseudovitelliform maculopathy associated with deferoxamine toxicity: multimodal imaging and electrophysiology of a rare entity

“…11 This is important because depletion of systemic iron stores may lead to chelation of other essential metals, such as copper, loss of which can subsequently lead to retinal toxicity. Discontinuation of the chelating agent generally leads to reversal of symptoms and signs; however, persistent damage has been reported, 4,6 appearing to correlate with prolonged exposure. Genead and Fishman 12 reported a reduction in pseudovitelliform lesion using brinzolamide, although it is unclear whether the resolution was related to withdrawal of the offending agent or to brinzolamide.…”

“…Various ocular toxicities have been reported, including cataract formation, 1 optic neuropathy, 2,3 and retinal damage, most commonly a retinal pigment epithelium (RPE) alteration, 3 which may resemble pattern dystrophy. 4 Pseudovitelliform lesions are rare, with only 4 reported cases to date. [4][5][6] Deferoxamine toxicity has been associated with chelation of metals, particularly copper, which is essential to the normal function of the outer retina and RPE.…”

“…4 Pseudovitelliform lesions are rare, with only 4 reported cases to date. [4][5][6] Deferoxamine toxicity has been associated with chelation of metals, particularly copper, which is essential to the normal function of the outer retina and RPE. 2,7,8 Histological evaluation 8 has revealed enlarged RPE cells, some of which had retraction or complete loss of microvilli; some RPE cells showed ragged borders, loss of basal infolding of plasma membrane, and swollen mitochondria.…”