Macular vitelliform lesion in desferrioxamine-related retinopathy

Abstract

To report a case of a macular vitelliform lesion associated with desferrioxamine treatment. Ocular, electrophysiological, psychophysical, perimetric, fluorescein angiographic, fundus autofluorescence, and spectral-domain OCT examinations were obtained on a 45-year-old Caucasian woman with thalassemia major treated with blood transfusions and desferrioxamine. The patient was observed to have a vitelliform macular lesion in the right eye with a hypopigmented macular lesion and retinal pigment mottling in the left. At the most recent follow-up visit, best-corrected visual acuity was 20/70 in the right eye and 20/25 in left. Full-field electroretinogram (ERG) testing showed normal cone and rod responses. Mild localized elevations of rod psychophysical thresholds were found. A vitelliform macular lesion can develop in patients treated with desferrioxamine. Some such patients may not show diffuse photoreceptor cell functional loss as determined by electrophysiological testing.

Fig. 1

Fundus photograph obtained at the most recent follow-up visit of the right eye (A) demonstrating a vitelliform-appearing macular lesion and left eye (B) demonstrating macular hypopigmentary changes, RPE mottling, and a flat choroidal nevus inferior to the fovea. Fluorescein angiogram (late frames) of both eyes shows window defects and late staining in the macula of each eye with pooling of fluorescein dye in the macula of the right eye as well as hypofluorescent loci in each eye.

Fig. 2

SD-OCT of the right eye (A) shows an elevation of the RPE associated with the vitelliform macular lesion and left eye (B) showing foveal disruption of the inner/outer segment junction of the photoreceptors with focal RPE disruption and loss. Infrared image (IR) of right eye (A) shows a well-demarcated vitelliform-appearing macular lesion with an enhanced reflectivity within the lesion. Left eye IR image (B) shows several foci of enhanced reflectively in the fovea and a hyper-reflective lesion inferior to fovea corresponding to the choroidal nevus seen ophthalmoscopically.

Fig. 3

Autofluorescence (AF) image of the right eye (A) shows an area of enhanced autofluorescence corresponding to the vitelliform macular lesion. Left eye image (B) shows scattered foci of faint enhanced autofluorescence corresponding to the RPE changes observed fundoscopically.

Fig. 4

Full-field electroretinogram (ERG) responses from the right eye show normal cone and rod amplitudes and implicit times under light-adapted (right panel, A) and dark-adapted (right panel, B) conditions.