Paparella M M, Hanson D G, Rao K N, Ulvestad R
Ann Otol Rhinol Laryngol. 1975 Jul-Aug;84(4 Pt 1):459-72. doi: 10.1177/000348947508400404.
Progressive genetic sensorineural hearing loss is a common problem in adults which is frequently incorrectly diagnosed or escapes diagnosis as to etiology altogether. If the hearing problem becomes manifest in the twilight of the patient's life it is often identified with the nondescriptive term "presbycusis." In all patients with sensorineural hearing loss, extrinsic (environmental) causes should be ruled out after which intrinsic or genetic etiology should strongly be considered, recognizing that extrinsic factors can be superimposed. A group of young adults was studied and diagnosed as having genetic progressive hearing loss. Polytomography ruled out the theoretical possibility of chochlear otosclerosis. The diagnosis of this disorder tests most heavily on the history and audiometric configuration which is characteristically flat or basin shaped with fairly good discrimination. Of further diagnostic significance was the fact that some patients, early in the course of their difficulty, presented with a predominantly low- or high-frequency loss which, over time, assumed a flat audiometric shape. The most important pathological finding from human temporal bone studies was atrophy of the stria vascularis.
进行性遗传性感音神经性听力损失是成年人中的常见问题，常常被误诊，或者病因完全未被诊断出来。如果听力问题在患者晚年出现，通常会被用非描述性术语“老年性耳聋”来描述。在所有感音神经性听力损失患者中，应排除外在（环境）原因，之后应强烈考虑内在或遗传病因，同时要认识到外在因素可能叠加存在。对一组年轻成年人进行了研究并诊断为患有遗传性进行性听力损失。体层摄影排除了耳蜗耳硬化症的理论可能性。这种疾病的诊断很大程度上依赖于病史和听力图形态，其特征是平坦或盆形，且辨别力相当好。具有进一步诊断意义的是，一些患者在听力问题出现早期主要表现为低频或高频听力损失，随着时间推移，听力图呈现出平坦形状。人类颞骨研究中最重要的病理发现是血管纹萎缩。
