Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome.
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.
Shaw
Elizabeth A
EA
The University of Melbourne, Department of Medicine, The Northern Hospital, Epping, VIC 3076, Australia.
Colville
Deb
D
Wang
Yan Yan
YY
Zhang
Ke Wei
KW
Dagher
Hayat
H
Fassett
Rob
R
Guymer
Robyn
R
Savige
Judy
J
D000293:Adolescent; D000328:Adult; D000368:Aged; D001324:Autoantigens / Q000235:genetics; D002648:Child; D041321:Chromosomes, Human, X; D024141:Collagen Type IV / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009394:Nephritis, Hereditary / Q000175:diagnosis* / Q000235:genetics*; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics
D001324:Autoantigens; C466620:COL4A4 protein, human; C478159:COL4A5 protein, human; D024141:Collagen Type IV; C057112:type IV collagen alpha3 chain