The aetiology of otosclerosis: a review of the literature

During the last century, hundreds of studies have been performed to identify factors that are involved in the aetiology of otosclerosis. These studies include a variety of aetiological factors and, although many theories have been postulated, the process of the development of the disease remains unclear. A historical overview and analysis of the literature dealing with the aetiology of otosclerosis is presented. The role of collagen disorders, genetic linkage studies, associations with the HLA system and measles virus infection as causal factors is discussed. From an epidemiological point of view, the disease has an autosomal dominant mode of inheritance. Therefore, since the introduction of new genetic research techniques over the last decades, more studies have been performed to find evidence of a genetic factor that initiates the development of otosclerosis. In this review, we tried to categorize the most prominent studies in sections according to their subjects within the diversity of aetiological factors that have been studied.