Genetics of otosclerosis

Abstract

Otosclerosis is an early-middle adult life genetic disease affecting bone remodelling in the ear. Current knowledge of otosclerosis as an inherited disease dates to the mid-19th century, and we report here an attempt to understand the genetics of otosclerosis and detect its heterogeneity. The analysis was conducted on 151 otosclerotic families. The results of our study indicate that while heredity plays an important role in the manifestation of the disease a substantial portion of otosclerotic cases could arise due to non-genetic causes.

Manual stapedotomy still holds good in the era of laser

“…Different mean age was reported by different authors. [6,7] Our mean age group was comparatively less than certain studies. [8][9][10] Females tended to outnumber their male counterparts except in the older age groups where there was a predominance of male patients.…”

“…Overall, the male:female ratio was found to be 1:1.2, the number of males and females being 23 and 28, respectively.Similar Indian studies report the male:female ratio of 1.2:1 to 1.48:1. [7,11] An audiometric finding characteristic of otosclerosis is an increase in bone conduction threshold with a peak at 2000 Hz known as Carhart's notch. [12] Although the notch occurs at 2000 Hz, a reduction in bone conduction sensitivity is seen from 500 to 4,000 Hz which is, on average, 5 dB at 500 Hz, 10 dB at 1000 Hz, 15 dB at 2000 Hz, and 5 dB at 4000 Hz.…”

Relation Between Renin-Angiotensin-Aldosterone System and Otosclerosis

“…This apparent inconsistency remains to be explained by a further investigation of the association between this AGT polymorphism and otosclerosis in other races. This observation may be due to the fact that otosclerosis has probably several and variable predisposing factors, depending on the studied population (30).…”

Relapsing polychondritis associated with bilateral stapes footplate fixation: a case report

“…Otosclerosis has a prevalence of 2% both in adult men and women patients [12]. Age at presentation of otosclerosis typically ranges from the teenage years to the late 40's, with individuals younger than 18 accounting for only 15% of documented cases [13,14]. This patient underwent stapedectomy at the age of 16 years.…”