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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 Vitelliform 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 10/20 Chart Review Study 20/290 SQ 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 N/A 16 g/week for 5 years ERG diffuse rod dysfunction in one eye diffuse dysfunction in EOG in both eyes Vitelliform Macular Lesion Myelodysplasia 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