Document Detail

Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome.
MedLine Citation:
PMID:  17071739     Owner:  NLM     Status:  MEDLINE    
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.
Elizabeth A Shaw; Deb Colville; Yan Yan Wang; Ke Wei Zhang; Hayat Dagher; Rob Fassett; Robyn Guymer; Judy Savige
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2006-10-27
Journal Detail:
Title:  Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association     Volume:  22     ISSN:  0931-0509     ISO Abbreviation:  Nephrol. Dial. Transplant.     Publication Date:  2007 Jan 
Date Detail:
Created Date:  2006-12-25     Completed Date:  2007-07-03     Revised Date:  2007-08-10    
Medline Journal Info:
Nlm Unique ID:  8706402     Medline TA:  Nephrol Dial Transplant     Country:  England    
Other Details:
Languages:  eng     Pagination:  104-8     Citation Subset:  IM    
The University of Melbourne, Department of Medicine, The Northern Hospital, Epping, VIC 3076, Australia.
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MeSH Terms
Autoantigens / genetics
Chromosomes, Human, X*
Collagen Type IV / genetics
Kidney / pathology
Linkage (Genetics)*
Middle Aged
Nephritis, Hereditary / diagnosis*,  genetics*
Retinal Diseases / diagnosis*,  genetics
Reg. No./Substance:
0/Autoantigens; 0/COL4A4 protein, human; 0/COL4A5 protein, human; 0/Collagen Type IV; 0/type IV collagen alpha3 chain

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