Ocular manifestations of Alport syndrome
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Shanghai Leading Academic Discipline Project, China (No.S30205)

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    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.

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Jian-Min Xu, Shi-Sheng Zhang, Qiong Zhang, et al. Ocular manifestations of Alport syndrome. Int J Ophthalmol, 2010,3(2):149-151

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