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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3340775 | PMC |
| http://dx.doi.org/10.3980/j.issn.2222-3959.2010.02.13 | DOI Listing |
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