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.
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.
Authors: Maya Srinivasan; Sebastien G M Uzel; Alfonso Gautieri; Sinan Keten; Markus J Buehler Journal: J Struct Biol Date: 2009-09-01 Impact factor: 2.867
Authors: André A M Torricelli; Vivek Singh; Marcony R Santhiago; Steven E Wilson Journal: Invest Ophthalmol Vis Sci Date: 2013-09-27 Impact factor: 4.799