Aceruloplasminemia With Positive Ceruloplasm Gene Mutation

JAMA Ophthalmol. 2016 Jul 14;134(7):e160816. doi: 10.1001/jamaophthalmol.2016.0816. Epub 2016 Jul 14.

Authors

Hyun Goo Kang¹, Min Kim¹, Sung Chul Lee²

Affiliations

¹ Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
² Institute of Vision Research, Department of Ophthalmology, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.

PMID: 27416276
DOI: 10.1001/jamaophthalmol.2016.0816

No abstract available

Publication types

Case Reports

MeSH terms

Ceruloplasmin / deficiency*
Ceruloplasmin / genetics*
DNA Mutational Analysis
Female
Fluorescein Angiography
Humans
Iron Metabolism Disorders / diagnosis
Iron Metabolism Disorders / genetics*
Middle Aged
Movement Disorders / genetics
Mutation*
Neurodegenerative Diseases / diagnosis
Neurodegenerative Diseases / genetics*
Retinal Diseases / diagnosis
Retinal Diseases / genetics*
Retinal Pigment Epithelium / pathology
Tomography, Optical Coherence

Substances

Ceruloplasmin

Supplementary concepts

Familial apoceruloplasmin deficiency