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      Retinal Degeneration in Hereditary Ceruloplasmin Deficiency

      case-report

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          Abstract

          A 56-year-old Japanese man was diagnosed as having hereditary ceruloplasmin deficiency. His ceruloplasmin concentration was below the lower limit of detection. Serum copper and iron concentrations were below normal, but the ferritin concentration was highly elevated. An ophthalmoscopic examination showed retinal degeneration with yellowish discoloration of the fundus in both eyes. Fluorescein angiography demonstrated a dark choroid in the posterior pole. Geographic areas of window defects were seen in the midperipheral fundus. The retinal degeneration in this patient was thought to be caused by the cellular iron deposition that occurred as a result of ceruloplasmin deficiency.

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          Author and article information

          Journal
          OPH
          Ophthalmologica
          10.1159/issn.0030-3755
          Ophthalmologica
          S. Karger AG
          0030-3755
          1423-0267
          1998
          February 1998
          04 December 1997
          : 212
          : 1
          : 11-14
          Affiliations
          aDepartment of Ophthalmology and bThird Department of Internal Medicine, Yamagata University School of Medicine, Yamagata, Japan
          Article
          27251 Ophthalmologica 1998;212:11–14
          10.1159/000027251
          9438577
          9d70c8be-acb2-4a21-9826-4be0e894327c
          © 1998 S. Karger AG, Basel

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          History
          Page count
          Figures: 2, References: 10, Pages: 4
          Categories
          Original Paper · Travail original · Originalarbeit

          Vision sciences,Ophthalmology & Optometry,Pathology
          Retinal pigment epithelium,Copper,Retinal degeneration,Ceruloplasmin deficiency,Iron

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