PDF(Pubmed)
Abstract：
We describe a 51-year-old Hispanic female with nail-patella syndrome (NPS), a rare genetic disease with a wide range of systemic features such as nail dysplasia and finger abnormalities, elbow webbing, iliac horn, patellar subluxation, and proteinuria. Some patients additionally have a history of glaucoma and other ocular features such as thick central corneal thickness, Lester\'s sign, prominent iris processes, and optic nerve cupping. Our patient had a history of glaucoma suspicion, prominent iris processes, increased cup to disc ratios, tilted optic discs, and tigroid fundi. In addition, we report optical coherence tomography angiography (OCTA) findings of focal areas of poor vessel densities in the macular and circumpapillary regions of both eyes, suggesting early compromised vascular supplies to these areas. Our OCTA findings (which include both structural and vascular details of retina and optic nerve) lend support to the use of this technology in patients with NPS.
摘要：
我们描述了一名51岁的西班牙裔女性，患有指甲髌骨综合征（NPS），一种罕见的遗传性疾病，具有广泛的系统特征，如指甲发育不良和手指异常，弯头织带,髂角,髌骨半脱位,和蛋白尿。一些患者还具有青光眼病史和其他眼部特征，例如中央角膜厚度厚，莱斯特的标志，突出的虹膜突起，和视神经拔罐。我们的病人怀疑有青光眼病史,突出的虹膜突起，增加杯盘比，倾斜的光盘，还有类人猿Fundi.此外,我们报告了双眼黄斑和周围乳头区域血管密度差的局灶性区域的光学相干断层扫描血管造影（OCTA）发现，提示这些区域的血管供应早期受损。我们的OCTA发现（包括视网膜和视神经的结构和血管细节）为NPS患者使用该技术提供了支持。
