PDF(Pubmed)
Abstract：
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset inherited skeletal myopathy. The diagnosis is based on a clinical presentation of blepharoptosis, dysphagia, and a positive family history of the disease in patients past 40 years of age. A 57-year-old male patient presented with ptosis without lid crease, adult-onset dysphagia, and bilateral pseudophakia. The patient underwent ptosis repair of upper eyelids via frontalis slings with silicone rods. His mother was subsequently found to have ptosis, dry eyes, and anorexia due to dysphagia, thus suggesting a probable family history. Based on the comprehensive ophthalmic evaluation, and based on his ptosis, dysphagia, and family history, the patient was diagnosed with OPMD.
摘要：
耳咽肌营养不良症（OPMD）是一种迟发性遗传性骨骼肌病。诊断是基于眼睑下垂的临床表现，吞咽困难,以及40岁以上患者的阳性家族史。一名57岁的男性患者出现眼睑下垂，没有眼睑折痕，成人发作的吞咽困难，和双侧假晶状体。该患者通过带有硅胶棒的额叶吊索进行了上眼睑下垂修复。他的母亲随后被发现患有上睑下垂，干眼,吞咽困难导致的厌食症,因此暗示了可能的家族史。在综合眼科评价的基础上，基于他的上睑下垂,吞咽困难,和家族史,患者被诊断为OPMD。
