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A woman in her 50s who initially presented with movement disorder was diagnosed with aceruloplasminemia, a rare autosomal recessive disorder resulting in accumulation of iron deposits in major organs. Genetic testing confirmed mutations in the ceruloplasmin gene (c.1864 + 1G>C). Dilated fundus examination disclosed multiple dark pigmentary lesions at the temporal periphery, sparing the macula (Figure, A). Fluorescein angiography revealed corresponding discrete retinal pigment epithelium transmission hyperfluorescence. Optical coherence tomography revealed presumed iron deposits at the retinal pigment epithelium level (Figure, B). Brain and liver magnetic resonance imaging showed diffuse iron deposition. Treatment options include iron chelation, fresh frozen plasma transfusion, and vitamin E intake.
Retinal imaging obtained from a patient with aceruloplasminemia with positive ceruloplasmin gene mutation reveals multiple dark pigmentary lesions at the temporal periphery (A). Optical coherence tomographic imaging reveals presumed iron deposits at the retinal pigment epithelium level (B).
Corresponding Author: Min Kim, MD, Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, 211, Eonjuro, Gangnam-gu, Seoul 135-270, Korea (email@example.com).
Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported.
Additional Contributions: We thank the patient for granting permission to publish this information.
Kang HG, Kim M, Lee SC. Aceruloplasminemia With Positive Ceruloplasm Gene Mutation. JAMA Ophthalmol. Published online July 01, 2016134(7):e160816. doi:10.1001/jamaophthalmol.2016.0816
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