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Ophthalmic Images
July 14, 2016

Aceruloplasminemia With Positive Ceruloplasm Gene Mutation

Author Affiliations
  • 1Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
  • 2Institute of Vision Research, Department of Ophthalmology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea
JAMA Ophthalmol. 2016;134(7):e160816. doi:10.1001/jamaophthalmol.2016.0816

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.

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