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. 2010;3(2):149-51.
doi: 10.3980/j.issn.2222-3959.2010.02.13. Epub 2010 Jun 18.

Ocular manifestations of Alport syndrome

Affiliations

Ocular manifestations of Alport syndrome

Jian-Min Xu et al. Int J Ophthalmol. 2010.

Abstract

Aim: To analyze the clinical manifestation of Alport syndrome, especially the ocular features.

Methods: The physical, ophthalmologic and audiologic examination results of thirty-two patients with Alport syndrome were analyzed retrospectively.

Results: Thirty (93.7%) patients had some family history. All patients had renal disease: eighteen (56.3%) patients with chronic renal failure, four (12.5%) patients with renal insufficiency, and the other ten (31.3%) patients with hematuria. Twenty (62.5%) patients had sensorineural deafness. Thirteen (40.6%) patients had ocular deformity, five (15.7%) patients had typical ocular changes: three patients with anterior lenticonus, and two patients with macular flecks.

Conclusion: Ocular anomalies are not requisite for the diagnosis of Alport syndrome. But its typical ocular features should be recognized by the ophthalmologists which supports the diagnosis.

Keywords: Alport syndrome; anterior lenticonus; macular flecks.

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References

    1. Alport AC. Hereditary familial congenital haemorrhagic nephritis. Br Med J. 1927;1:504–506. - PMC - PubMed
    1. Srinivasan M, Uzel SG, Gautieri A, Keten S, Buehler MJ. Alport Syndrome mutations in type IV tropocollagen alter molecular structure and nanomechanical properties. J Structural Biology. 2009;168(3):503–510. - PubMed
    1. Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A. Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene. Kidney Int. 2004;65(5):1598–1603. - PubMed
    1. Kashtan CE. Alport syndrome and thin glomerular basement membrane disease. J Am Soc Nephrol. 1998;9(9):1736–1750. - PubMed
    1. Flinter F, Chantler C. Alport's syndrome: inheritance and clinical features. In: Spitzer A, Auner E, editors. Inheritance of Kidney and Renal Tract Disease. Boston: Kluwer Academic; 1990. p. 107.

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