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Research Reports

Bull’s eye and pigment maculopathy are further retinal manifestations of an abnormal Bruch’s membrane in Alport syndrome

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Pages 238-244 | Received 03 Jan 2016, Accepted 27 Jun 2016, Published online: 02 Aug 2016

References

  • Gubler M, Levy M, Broyer M, et al. Alport’s syndrome. A report of 58 cases and a review of the literature. Am J Med 1981;70:493–505.
  • Savige J, Rana K, Tonna S, et al. Thin basement membrane nephropathy. Kidney Int 2003;64:1169–1178.
  • Feingold J, Bois E, Chompret A, et al. Genetic heterogeneity of Alport syndrome. Kidney Int 1985;27:672–677.
  • Savige J, Liu J, DeBuc DC, et al. Retinal basement membrane abnormalities and the retinopathy of Alport syndrome. Invest Ophthalmol Vis Sci 2010;51:1621–1627.
  • Cashman SJ, Pusey CD, Evans DJ. Extraglomerular distribution of immunoreactive Goodpasture antigen. J Pathol 1988;155:61–70.
  • Kleppel MM, Michael AF. Expression of novel basement membrane components in the developing human kidney and eye. Am J Anat 1990;187:165–174.
  • Cosgrove D, Samuelson G, Meehan DT, et al. Ultrastructural, physiological, and molecular defects in the inner ear of a gene-knockout mouse model for autosomal Alport syndrome. Hear Res 1998;121:84–98.
  • Kalluri R, Shield CF, Todd P, et al. Isoform switching of type IV collagen is developmentally arrested in X-linked Alport syndrome leading to increased susceptibility of renal basement membranes to endoproteolysis. J Clin Invest 1997;99:2470–2478.
  • Spear GS, Slusser RJ. Alport’s syndrome. Emphasizing electron microscopic studies of the glomerulus. Am J Pathol 1972;69:213–224.
  • Hertz JM, Thomassen M, Storey H, et al. Clinical utility gene card for: Alport syndrome. Eur J Hum Genet 2012;20.
  • Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males. J Am Soc Nephrol 200;11:649–657.
  • Gross O, Netzer KO, Lambrecht R, et al. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transplant 2002;17:1218–1227.
  • Jais JP, Knebelmann B, Giatras I, et al. X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a “European Community Alport Syndrome Concerted Action” study. J Am Soc Nephrol 2003;14:2603–2610.
  • Shaw EA, Colville D, Wang YY, et al. Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome. Nephrol Dial Transplant 2007;22:104–108.
  • Colville DJ, Savige J. Alport syndrome. A review of the ocular manifestations. Ophthalmic Genet 1997;18:161–173.
  • Gehrs KM, Pollock SC, Zilkha G. Clinical features and pathogenesis of Alport retinopathy. Retina 1995;15:305–311.
  • Usui T, Ichibe M, Hasegawa S, et al. Symmetrical reduced retinal thickness in a patient with Alport syndrome. Retina 2004;24:977–979.
  • Rahman W, Banerjee S. Giant macular hole in Alport syndrome. Can J Ophthalmol 2007;42:314–315.
  • Setala K, Ruusuvaara P. Alport syndrome with hereditary macular degeneration. Acta Ophthalmol (Copenh) 1989;67:409–414.
  • Fawzi AA, Lee NG, Eliott D, et al. Retinal findings in patients with Alport Syndrome: expanding the clinical spectrum. Br J Ophthalmol 2009;93:1606–1611.
  • Tan R, Colville D, Wang YY, et al. Alport retinopathy results from “severe” COL4A5 mutations and predicts early renal failure. Clin J Am Soc Nephrol 2010;5:34–38.
  • Deva R, Alias MA, Colville D, et al. Vision-threatening retinal abnormalities in chronic kidney disease stages 3 to 5. Clin J Am Soc Nephrol 2011;6:1866–1871.
  • Cambiaggi A. Unusual ocular lesions in a case of systemic lupus erythematosus. AMA Arch Ophthalmol 1957;57:451–453.
  • Resnick K, Zuckerman J, Cotlier E. Cohen syndrome with bull’s eye macular lesion. Ophthalmic Paediatr Genet 1986;7:1–8.
  • Wang H, Falk MJ, Wensel C, Traboulsi EI. Cohen syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. Gene reviews. Seattle, WA: University of Washington; 1993. [Online].
  • Kolehmainen J, Black GC, Saarinen A, et al. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet 2003;72:1359–1369.
  • Savige J, Sheth S, Leys A, et al. Ocular features in Alport syndrome: pathogenesis and clinical significance. Clin J Am Soc Nephrol 2015;10:703–709.
  • Randhawa S, Fu AD, Lujan BJ, et al. Autofluorescence and spectral domain OCT findings in Alport syndrome. Retin Cases Brief Rep 2013;7:376–379.

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