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Ocular features aid the diagnosis of Alport syndrome

Nature Reviews Nephrology volume 5, pages 356–360 (2009)Cite this article

Abstract

Alport syndrome is a common cause of inherited kidney failure but often goes unrecognized. Most affected families show an X-linked pattern of inheritance where affected males develop renal failure and hearing loss, and often lenticonus and retinopathy. Lenticonus is evident on both ophthalmoscopy and slit-lamp examination but retinal abnormalities are more obvious on imaging. Such abnormalities include a perimacular dot-and-fleck retinopathy and a peripheral fleck retinopathy, which might occur independently of each other; a 'dull macular reflex' or 'lozenge', when the perimacular flecks are confluent; and, rarely, a macular hole caused by retinal thinning. Imaging of the central and peripheral retina including 'red-free' views is a rapid, noninvasive and inexpensive test that might aid the diagnosis of Alport syndrome, particularly in male individuals with early-onset renal failure. The assistance of an interested ophthalmologist is invaluable in the diagnosis of Alport syndrome.

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Figure 1
Figure 2: Retinal photographs showing central retinopathy in Alport syndrome.
Figure 3: Retinal photographs illustrating the 'dull macular reflex' or 'lozenge' that can occur in Alport syndrome.
Figure 4: Retinal photograph showing the retinal sheen that is normal in young people.
Figure 5: Typical retinopathy seen in mesangiocapillary glomerulonephritis type II.
Figure 6: Retinal photographs of peripheral retinopathy in Alport syndrome.

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Acknowledgements

Our work is supported by the National Health and Medical Research Committee of Australia and by Kidney Health Australia. We would also like to thank the many patients and their families who have contributed to our work.

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  1. The University of Melbourne Department of Medicine (Northern Health), The Northern Hospital, Epping, Vic, Australia

    Judy Savige & Deb Colville

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  1. Judy Savige
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Correspondence to Judy Savige.

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Savige, J., Colville, D. Ocular features aid the diagnosis of Alport syndrome. Nat Rev Nephrol 5, 356–360 (2009). https://doi.org/10.1038/nrneph.2009.65

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