Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome

Shaw, Elizabeth A., Colville, Deb, Wang, Yan Yan, Zhang, Ke Wei, Dagher, Hayat, Fassett, Rob, Guymer, Robyn and Savige, Judy (2007) Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome. Nephrology Dialysis Transplantation, 22 1: 104-108. doi:10.1093/ndt/gfl607

Author Shaw, Elizabeth A.
Colville, Deb
Wang, Yan Yan
Zhang, Ke Wei
Dagher, Hayat
Fassett, Rob
Guymer, Robyn
Savige, Judy
Title Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome
Journal name Nephrology Dialysis Transplantation   Check publisher's open access policy
ISSN 0931-0509
Publication date 2007-01-01
Sub-type Article (original research)
DOI 10.1093/ndt/gfl607
Open Access Status Not Open Access
Volume 22
Issue 1
Start page 104
End page 108
Total pages 5
Place of publication Oxford, U.K.
Publisher Oxford University Press
Language eng
Subject 1103 Clinical Sciences
Formatted abstract
Alport syndrome is an inherited disease resulting in kidney failure, hearing loss and ocular abnormalities. Alport syndrome is however often unrecognized, and the aim of this study was to characterize the associated but rarely described peripheral retinopathy and determine whether its demonstration was diagnostically helpful.


Index cases were diagnosed with Alport syndrome on renal biopsy in themselves or a family member. Inheritance and affected status were determined using microsatellite markers at the COL4A5 and COL4A3/COL4A4 loci, respectively. Participants’ eyes were dilated, and examined with direct and indirect ophthalmoscopy, and slit lamp biomicroscopy by an expert ophthalmologist who was
unaware of the patients’ disease status.


Ten males and nine females with X-linked Alport syndrome and seven with autosomal recessive disease were studied. Of the 26 patients, 16 had central retinopathy (62%), and 19 patients had peripheral retinopathy (74%). The peripheral changes occurred in both males and females with X-linked and autosomal recessive Alport syndrome, and were more common when renal failure, hearing loss, lenticonus and the central changes were present, but were also noted in 3 X-linked carriers with normal renal function.

The peripheral retinopathy occurs in X-linked and autosomal recessive Alport syndrome even when the central retinopathy is absent. Careful retinal examination and photography that includes the periphery is a safe and inexpensive method that may help in the diagnosis of Alport syndrome especially in carriers of X-linked disease.
Keyword Alport syndrome
Collagen type IV
Glomerular basement membrane
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Human Movement and Nutrition Sciences Publications
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Citation counts: TR Web of Science Citation Count  Cited 17 times in Thomson Reuters Web of Science Article | Citations
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Created: Fri, 26 Mar 2010, 23:34:38 EST by Ms May Balasaize on behalf of Faculty Of Health Sciences