Retinal degeneration in hereditary ceruloplasmin deficiency

Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde
K YamaguchiH Sasaki

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.

Citations

Oct 12, 2001·Free Radical Biology & Medicine·K D WelchS D Aust
Nov 28, 2007·Retina·Robert W WongJoshua L Dunaief
Sep 15, 2004·Proceedings of the National Academy of Sciences of the United States of America·Paul HahnJoshua L Dunaief
Jan 5, 2002·Proceedings of the National Academy of Sciences of the United States of America·Dror SharonThaddeus P Dryja
Jan 20, 2007·Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine·Kevin D WelchSteven D Aust
Oct 1, 2007·Retinal Cases & Brief Reports·Toshitaka ItabashiKohji Nishida
Oct 29, 2013·Survey of Ophthalmology·Marta UgartePaul N Bishop
Jul 22, 2011·Optometry : Journal of the American Optometric Association·William J DentonWilliam J McGill
Oct 9, 2007·Progress in Retinal and Eye Research·Xining HeJoshua L Dunaief
Apr 22, 2010·IUBMB Life·Jaya P Gnana-PrakasamVadivel Ganapathy
Jul 15, 2009·Brain Research·Jared IacovelliArmin Schumacher
Nov 6, 2004·Blood Cells, Molecules & Diseases·Srujana CherukuriPaul L Fox
Aug 25, 2004·Experimental Eye Research·Lin ChenJoshua L Dunaief
Nov 19, 2003·FEBS Letters·Christopher Stoj, Daniel J Kosman
Jul 10, 2020·Journal of Neuroscience Research·Ali ShahandehChristine T O Nguyen
Oct 27, 2018·Pharmaceuticals·Wanting Shu, Joshua L Dunaief
Nov 4, 1998·Archives of Biochemistry and Biophysics·C A Reilly, S D Aust
May 4, 2021·Investigative Ophthalmology & Visual Science·Neringa JurkuteUNKNOWN Genomics England Research Consortium

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