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目前显示的是标签为“Alport Syndrome”的博文

Optic Disc Drusen in a Child Diagnosed with Alport Syndrome—Case Report

Read full paper at: http://www.scirp.org/journal/PaperInformation.aspx?PaperID=52641#.VJzIpcCAM4 Author(s)      Adamu Sambo 1 , Mona Aslam 2 , Syam Padmanabha 2 Affiliation(s) 1 University Hospital of Leicester, Leicester, UK . 2 Peterborough City Hospital, Peterborough, UK . ABSTRACT Optic disc drusen are eye abnormalities characterised by calcific degeneration affecting some axons of the optic nerve. Alport syndrome is a collagen IV related nephropathy with well-described pathognomonic ocular features. We present the case of a child who following series of investigations was found to have bilateral optic disc drusen, and eventually a further diagnosis of Alport syndrome confirmed. L...