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P<P, published online ahead of print October 22, 2009
(Investigative Ophthalmology and Visual Science. )
© 2009 by The Association for Research in Vision and Ophthalmology, Inc.
doi:10.1167/iovs.08-3323
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Retinal basement membrane abnormalities and the retinopathy of Alport syndrome

Judy Savige,1 John Liu,2 Delia Cabrera DeBuc,3 James T Handa,4 Gregory S Hageman,5 Yan Yan Wang,6 John D Parkin,7 Brendan Vote,8 Rob Fassett,9 Shirley Sarks,10 and Deb Colville11

1Department of Medicine, The University of Melbourne, Epping , Australia 2Medicine (Northern Health), The University of Melbourne, Melbourne , Australia 3Ophthalmology, Bascom Palmer Eye Institute. University of Miami Miller School of Medicine, Miami, United States 4Wilmer Eye Institute, Baltimore, United States 5Ophthalmology & Visual Sciences, University of Iowa - Center for Macular Degeneration, Iowa City, United States 6Medicine (Northern Health), The University of Melbourne, Melbourne , Australia 7Department of Medicine (Northern Health), The University of Melbourne, Epping, Australia 8Ophthalmology, Launceston General Hospital, Launceston, Australia 9Medicine, Launceston General Hospital, Launceston , Australia 10Sydney, Australia 11Medicine (Northern Health), The University of Melbourne, Melbourne , Australia

Correspondence: Judy Savige, Email: jasavige{at}unimelb.edu.au

Abstract

Purpose. To determine the effects of X-linked and autosomal recessive Alport syndrome on retinal basement membranes and how these result in the characteristic perimacular dot and fleck retinopathy, 'lozenge', and macular hole.

Methods. The type IV collagen chains present in the normal retina were determined immunohistochemically. Ten patients with Alport syndrome underwent retinal photography and optical coherence tomography (OCT, Topcon OCT-1000, Topcon, Tokyo; and Cirrus HD-OCT and Stratus OCT, Carl Zeiss Meditec, CA) to determine the thickness of the internal limiting membrane (ILM) by segmentation analysis, the layers affected by the retinopathy and any correlates of the lozenge and macular hole. Bruch's membrane was examined directly by electron microscopy in a donated Alport eye.

Results. The {alpha}3{alpha}4{alpha}5 type IV collagen network was present in the normal ILM as well as the retinal pigment epithelium membrane of Bruch's membrane. In Alport syndrome the ILM/nerve fibre layer and Bruch's membrane were both thinned. The dot and fleck retinopathy corresponded to hyperreflectivity of the ILM/ nerve fibre layer in the distribution of the nerve fibre layer. The lozenge and macular hole corresponded to temporal macular thinning. The whole retinal thinning was principally due to thinning of the ILM/nerve fibre layer and inner nuclear layer.

Conclusions. The Alport dot and fleck retinopathy results primarily from abnormalities in the ILM/nerve fibre layer rather than Bruch's membrane. Thinning of the ILM/nerve fibre layer contributes to the retinopathy, lozenge and macular hole possibly through interfering with nutrition of the overlying retina or the clearance of metabolic by-products.

Key Words: genetic diseases • collagen • basement membrane






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