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Abstract：
We report two cases of Alport syndrome and compare the clinical presentations and imaging findings in these cases. The clinical examination consisted of best-corrected visual acuity (BCVA), direct ophthalmoscopy, and slit-lamp examination. Macular optical coherence tomography (OCT) and anterior segment OCT (AS-OCT) and were utilized to document the details of the anterior and posterior segment pathologies. In order to evaluate systemic presentations of Alport syndrome, nephrology, and otolaryngology were consulted for each patient. In this study, the first case was a 27-year-old female with progressive myopia, anterior lenticonus, and temporal retinal thinning found in the ocular examination that led to the diagnosis of Alport syndrome. She underwent clear lens extraction and intraocular lens implantation, restoring acceptable visual acuity. The second case was a 20-year-old male patient with low visual acuity, severe bilateral anterior lenticonus, bilateral cataract, and temporal retinal thinning. The patient later developed renal failure and is a candidate for kidney transplantation. In this case report, progressive renal failure, hearing loss, and ocular abnormalities were all observed. This is consistent with previously reported cases given the typical characteristics of Alport syndrome, a rare inherited disease. The severity of those characteristics was higher in the male subject, a finding also consistent with prior reports indicating that males are usually affected more frequently and more severely than females, given that Alport syndrome is generally inherited as an X-linked disorder. Additionally, anterior segment and macular OCTs seemed to be of considerable significance in the early diagnosis of Alport syndrome given the typical ocular manifestations e.g. anterior lenticonus or temporal retinal atrophy.
摘要：
我们报告了2例Alport综合征，并比较了这些病例的临床表现和影像学表现。临床检查包括最佳矫正视力（BCVA），直接检眼镜,和裂隙灯检查。黄斑光学相干断层扫描（OCT）和前段OCT（AS-OCT）用于记录前段和后段病理的详细信息。为了评估Alport综合征的全身表现，肾脏病学,并对每位患者进行耳鼻喉科的咨询.在这项研究中,第一例是一名27岁女性进行性近视,前肠镜,眼部检查中发现的颞叶视网膜变薄导致Alport综合征的诊断。她接受了透明晶状体摘除和人工晶状体植入，恢复可接受的视力。第二例是一名20岁的男性患者，视力低下，严重的双侧前凸骨，双侧白内障,颞叶视网膜变薄.该患者后来出现肾衰竭，是肾移植的候选人。在这个案例报告中,进行性肾衰竭,听力损失,并观察到眼部异常。这与先前报道的具有Alport综合征典型特征的病例一致，一种罕见的遗传性疾病.这些特征的严重程度在男性受试者中更高，这一发现也与以前的报告一致，表明男性通常比女性受到更频繁和更严重的影响，鉴于Alport综合征通常作为X连锁疾病遗传。此外,考虑到典型的眼部表现，例如前凹凸骨或颞部视网膜萎缩，眼前段和黄斑OCT在Alport综合征的早期诊断中似乎具有重要意义。
