NDT Advance Access originally published online on October 27, 2006
Nephrology Dialysis Transplantation 2007 22(1):104-108; doi:10.1093/ndt/gfl607
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Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome
1Department of Medicine, The University of Melbourne, Austin Health/Northern Health, The Northern Hospital, Epping, VIC 3076, 2Centre for Eye Research Australia (CERA), The University of Melbourne, East Melbourne, VIC 3002 and 3Launceston General Hospital, Launceston, TAS 7250, Australia
Correspondence and offprint requests to: Prof. Judy Savige, The University of Melbourne, Department of Medicine, The Northern Hospital, Epping VIC 3076, Australia. Email: jsavige{at}unimelb.edu.au
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Abstract |
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Background. 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.
Methods. 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.
Results. 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.
Conclusions. 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.
Keywords: Alport syndrome; collagen type IV; glomerular basement membrane; retinopathy
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