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Kashtan, C.E. (2010) Collagen IV-Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy). In: Pagon, R.A., Bird, T.D., Dolan, C.R. and Stephens, K., Eds., Gene Reviews [Internet] Seattle (WA), University of Washington, Seattle.

has been cited by the following article:

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

  AUTHORS: Adamu Sambo, Mona Aslam, Syam Padmanabha

  KEYWORDS: Alport Syndrome, Optic Disc Drusen, Pseudopapilloedema

  JOURNAL NAME: Open Journal of Nephrology, Vol.4 No.4, December 25, 2014

  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. Literature is clear on the underlined aetiology responsible for both renal and extra renal abnormalities of Alport syndrome, which is not related to development of optic disc drusen. The case described makes it pertinent that not only the associated eye signs of Alport syndrome are monitored, but also early detection of other possible co-existing diseases that may influence outcomes.