Otosclerosis 1: the aetiopathogenesis of otosclerosis

Abstract

Otosclerosis is a bone dystrophy localised to the inner ear and the stapes footplate. Otosclerosis is a frequent cause of deafness in adults. The patient with otosclerosis typically presents with a history of slowly progressive conductive or mixed hearing loss that is usually bilateral and often asymmetric, usually between the ages of 15 and 45 years. The disease is characterised by alternating phases of bone resorption and formation. The majority of studies on families with otosclerosis suggest an autosomal dominant mode of inheritance with incomplete penetrance.