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Table 1 Published pattern dystrophy cases associated with chelation therapy

From: Pattern dystrophies in patients treated with deferoxamine: report of two cases and review of the literature

Study (Year) Study type No of Patients DFO Treatment Electrophysiology Tests Retinal Findings Additional information Management Follow up - outcome
Genead et al. [26] Case report 1 Case SQ N/A ERG normal Vitelliform Macular Lesion Splenectomy Mild hearing impairment N/A regarding chelation therapy Brinzolamide 0.1% Initiation Improvement of vitelliform lesion in one eye with Brinzolamide 0.1% drops
Gonzales et al. [25] Case series 2 Patients PT1 1 g/2xdaily/SQ for 11 months,
PT2 IV 2680 mg/5x weekly for 3 years
PT1 ERG, EOG normal
PT2 ERG reduction in cone mediated responses
EOG normal
Macular Lesion
Myelodysplasia PT1 initially DFO dose reduced to 500 mg/day SQ, at 4 months increased to 1 g/d, discontinued at 1 year
PT2 DFO discontinuation
PT1 Vision deteriorated, vitelliform lesion increased and atrophy developed at 2 years follow up, inspite of DFO dose modification and final discontinuation
PT2 Vision deteriorated at 1 year follow up
Lesion anatomically unchanged in one eye, resolution of vitelliform lesion in the fellow eye
Viola et al. [24] Retrospective
Chart Review Study 20/290
Range 1.5–4.5 mg/kg
Mean 32.7 ± 8.7 years
Range 20–52 years
N/A Butterfly shaped macular lesion [3] Vitelliform macular lesion [1]
Fundus flavimaculatus-like [3]
Fundus pulvirulentus-like [3]
Minimal change [10]
Beta-thalassemia Vitelliform PT switched to deferasirox
1 butterfly PT switched to deferasirox, 2 unchanged
Mean duration of follow up 19.7 ± 8.8 months (range 10–45 months).
6 patients (one with Butterfly shaped and one with Vitelliform-like macular lesion) switched to deferasirox
14 patients remained on the same chelation regimen
All Butterfly shaped and Vitelliform cases progressed to RPE atrophy during follow up
Bui et al. [35] Case report
1 Case
16 g/week
for 5 years
ERG diffuse rod dysfunction in one eye diffuse dysfunction in EOG in both eyes Vitelliform
Macular Lesion
Adult onset hearing loss
DFO discontinuation
Switch to deferasirox Brinzolamide 0.1% Initiation
Lesion reduced in size 2 months after DFO discontinuation then increased on deferasirox
Vision remained stable
PT lost on follow up
  1. Abbreviations used: DFO deferoxamine, SQ subcutaneous, ERG electroretinogram, EOG electrooculogram, PT patient, N/A not available