A Case of Familial Otosclerosis / 대한이비인후과학회지

ABSTRACT

Otosclerosis is a primary metabolic bone disease of the otic capsule and ossicles. It is one of the causes of acquired hearing loss, with clinical manifestations occurring in approximately 1% of individuals in some populations in the Western countries. Although the cause of otosclerosis is undetermined, the disease has a well established hereditary predisposition, with approximately half of all affected individuals having family members known to be affected. Many genetic studies of otosclerosis support an autosomal dominant mode of inheritance with penetrance in the range of 20-40%. There have been a few reports of the clinically suspicious otosclerosis cases in Korea, but otosclerosis having familial forms have not been reported. We report one case of familial otosclerosis.