Summary: Formation of spongy bone in the labyrinth capsule which can progress toward the STAPES (stapedial fixation) or anteriorly toward the COCHLEA leading to conductive, sensorineural, or mixed HEARING LOSS. Several genes are associated with familial otosclerosis with varied clinical signs.

Top Publications

  1. Mansour S, Nicolas K, Ahmad H. Round window otosclerosis: radiologic classification and clinical correlations. Otol Neurotol. 2011;32:384-92 pubmed publisher
    To develop a radiologic classification of severity of round window involvement in otosclerosis and describe the impact of each class on hearing and outcome of stapes surgery.
  2. Waterval J, Vallinga M, Brans B, Winkens B, Stokroos R. 18F-fluoride PET/CT scan for quantification of bone metabolism in the inner ear in patients with otosclerosis--a pilot study. Clin Nucl Med. 2013;38:677-85 pubmed publisher
    In otosclerosis, CT of the temporal bone is used to confirm the diagnosis...
  3. Schrauwen I, Thys M, Vanderstraeten K, Fransen E, Dieltjens N, Huyghe J, et al. Association of bone morphogenetic proteins with otosclerosis. J Bone Miner Res. 2008;23:507-16 pubmed
    We studied the role of polymorphisms in 13 candidate genes on the risk of otosclerosis in two large independent case-control sets...
  4. Nguyen Y, Grayeli A, Belazzougui R, Rodriguez M, Bouccara D, Smail M, et al. Diode laser in otosclerosis surgery: first clinical results. Otol Neurotol. 2008;29:441-6 pubmed publisher
    To evaluate the functional results of otosclerosis surgery using diode laser.
  5. Matterson A, O Leary S, Pinder D, Freidman L, Dowell R, Briggs R. Otosclerosis: selection of ear for cochlear implantation. Otol Neurotol. 2007;28:438-46 pubmed
    ..2. To examine whether the rate of facial nerve stimulation postoperatively is correlated with the type of electrode used...
  6. Imauchi Y, Jeunemaitre X, Boussion M, Ferrary E, Sterkers O, Grayeli A. Relation between renin-angiotensin-aldosterone system and otosclerosis: a genetic association and in vitro study. Otol Neurotol. 2008;29:295-301 pubmed
    ..The objective of this study was to investigate the implication of this hormone in otosclerosis.
  7. Huber A, Veraguth D, Schmid S, Roth T, Eiber A. Tight stapes prosthesis fixation leads to better functional results in otosclerosis surgery. Otol Neurotol. 2008;29:893-9 pubmed publisher
    ..Tight fixation of stapes prostheses yields better functional results because sound transmission from the incus to the prosthesis is improved...
  8. Beltrame A, Martini A, Prosser S, Giarbini N, Streitberger C. Coupling the Vibrant Soundbridge to cochlea round window: auditory results in patients with mixed hearing loss. Otol Neurotol. 2009;30:194-201 pubmed
    ..To assess the functional results of the Vibrant Soundbridge (VBS) placed on the round window (RW) in patients with mixed hearing loss...
  9. Yang T, Young Y. Vestibular-evoked myogenic potentials in patients with otosclerosis using air- and bone-conducted tone-burst stimulation. Otol Neurotol. 2007;28:1-6 pubmed
    b>Otosclerosis is a progressive disease with a remodeling process causing ossicular malformation and conductive hearing loss...

More Information


  1. Vincent R, Sperling N, Oates J, Jindal M. Surgical findings and long-term hearing results in 3,050 stapedotomies for primary otosclerosis: a prospective study with the otology-neurotology database. Otol Neurotol. 2006;27:S25-47 pubmed
    To evaluate with a new otologic database the results of primary stapes surgery for otosclerosis with up to 14 years of follow-up in a consecutive series of 2,525 patients operated on by the same surgeon with the same technique (..
  2. Sziklai I, Batta T, Karosi T. Otosclerosis: an organ-specific inflammatory disease with sensorineural hearing loss. Eur Arch Otorhinolaryngol. 2009;266:1711-8 pubmed publisher
    b>Otosclerosis is an inflammatory disease associated with persistent measles virus (MV) infection of the otic capsule...
  3. Csomor P, Szalmás A, Konya J, Sziklai I, Karosi T. Restriction analysis of otosclerosis-associated CD46 splicing variants. Eur Arch Otorhinolaryngol. 2010;267:219-26 pubmed publisher
    b>Otosclerosis is a primary bone remodeling disorder of the human otic capsule and is associated with persistent measles virus infection...
  4. Schrauwen I, Venken K, Vanderstraeten K, Thys M, Hendrickx J, Fransen E, et al. Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2. Genes Immun. 2010;11:246-53 pubmed publisher
    b>Otosclerosis is a common form of hearing loss, characterized by disordered bone remodeling in the otic capsule. Within the otosclerotic foci, several immunocompetent cells and immune-modulating factors can be found...
  5. Csomor P, Sziklai I, Karosi T. Controversies in RELN/reelin expression in otosclerosis. Eur Arch Otorhinolaryngol. 2012;269:431-40 pubmed publisher
    ..a potential genetic association between disease-specific single nucleotide polymorphism (SNPs) of RELN and otosclerosis and confirmed RELN expression in human stapes footplates...
  6. Khalfallah A, Schrauwen I, Mnaja M, Fransen E, Lahmar I, Ealy M, et al. Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia. Ann Hum Genet. 2010;74:399-405 pubmed publisher
    b>Otosclerosis is a common form of conductive hearing loss, caused by an abnormal bone remodelling in the otic capsule. Both environmental and genetic factors have been implicated in the etiology of this disease...
  7. Arnold A, Fawzy T, Steinhoff H, Kiefer J, Arnold W. Influence of a totally open oval window on bone conduction in otosclerosis. Audiol Neurootol. 2011;16:23-8 pubmed publisher
    ..The aim of this study was to evaluate changes in bone conduction thresholds before, during and after total stapedectomy...
  8. Schrauwen I, Van Camp G. The etiology of otosclerosis: a combination of genes and environment. Laryngoscope. 2010;120:1195-202 pubmed publisher
    b>Otosclerosis is a common form of hearing loss characterized by abnormal bone remodeling in the otic capsule. It is a complex genetic disease, caused by a combination of genetic and environmental factors...
  9. Saka N, Seo T, Fujimori K, Mishiro Y, Sakagami M. Vestibular-evoked myogenic potential in response to bone-conducted sound in patients with otosclerosis. Acta Otolaryngol. 2012;132:1155-9 pubmed publisher
    Saccular dysfunction is a major cause of balance problems in patients with otosclerosis. Vestibular-evoked myogenic potential in response to bone-conducted sound (BC-VEMP) testing is useful for diagnosis of these patients.
  10. Babighian G, Albu S. Failures in stapedotomy for otosclerosis. Otolaryngol Head Neck Surg. 2009;141:395-400 pubmed publisher
    ..To review the results of 78 revision stapedotomies, determining the causes of failure and the predictors of surgical success...
  11. Schrauwen I, Ealy M, Huentelman M, Thys M, Homer N, Vanderstraeten K, et al. A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis. Am J Hum Genet. 2009;84:328-38 pubmed publisher
    b>Otosclerosis is a common form of progressive hearing loss, characterized by abnormal bone remodeling in the otic capsule. The etiology of the disease is largely unknown, and both environmental and genetic factors have been implicated...
  12. Trivelli M, D Ascanio L, Pappacena M, Greco F, Salvinelli F. Air- and bone-conducted vestibular evoked myogenic potentials (VEMPs) in otosclerosis: recordings before and after stapes surgery. Acta Otorhinolaryngol Ital. 2010;30:5-10 pubmed
    ..Enrolled in the study were 41 consecutive patients (32 female, 9 male; mean age 36 years) (42 ears) with otosclerosis. Audiological evaluations and diagnosis of otosclerosis were made according to the guidelines of the Committee ..
  13. Singbartl F, Basta D, Seidl R, Ernst A, Todt I. Perioperative recordings of vestibular-evoked myogenic potentials in otosclerosis. Otol Neurotol. 2006;27:1070-3 pubmed
    The aim of the present study was to investigate saccular function in patients with otosclerosis. Furthermore, the influence of stapedotomy on the vestibular-evoked myogenic potentials (VEMPs) should be demonstrated.
  14. Salvinelli F, Trivelli M, D Ascanio L. Early diagnosis of otosclerosis: possible role of VEMPs. Acta Otolaryngol. 2007;127:1008 pubmed
  15. Priyadarshi S, Panda K, Panda A, Ramchander P. Lack of association between SNP rs3914132 of the RELN gene and otosclerosis in India. Genet Mol Res. 2010;9:1914-20 pubmed publisher
    b>Otosclerosis (MIM 166800) is primarily a metabolic bone disorder of the otic capsule, which leads to bony fixation of the stapedial footplate in the oval window; it is among the most common causes of acquired hearing loss...
  16. Thys M, Van Den Bogaert K, Iliadou V, Vanderstraeten K, Dieltjens N, Schrauwen I, et al. A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1. Eur J Hum Genet. 2007;15:362-8 pubmed
    b>Otosclerosis is a common form of hearing impairment among white adults with a prevalence of 0.3-0.4%. It is caused by abnormal bone homeostasis of the otic capsule that compromises free motion of the stapes in the oval window...
  17. Manzari L, Modugno G. Nystagmus induced by bone (mastoid) vibration in otosclerosis: a new perspective in the study of vestibular function in otosclerosis. Med Sci Monit. 2008;14:CR505-10 pubmed
    ..vestibular responses to bone vibration-induced nystagmus (BVIN) during bed-side examination in patients with otosclerosis and conductive hearing loss...
  18. Nomiya S, Cureoglu S, Kariya S, Morita N, Nomiya R, Nishizaki K, et al. Histopathological incidence of facial canal dehiscence in otosclerosis. Eur Arch Otorhinolaryngol. 2011;268:1267-71 pubmed publisher
    The objective of this study was to evaluate the histopathological incidence of facial canal dehiscence in otosclerosis cases compared with non-otosclerotic controls...
  19. Dumon T. Vibrant soundbridge middle ear implant in otosclerosis: technique - indication. Adv Otorhinolaryngol. 2007;65:320-2 pubmed
    ..VSB) middle ear implant, the question emerged of its indication in mixed hearing loss due to advanced otosclerosis. We describe the VSB implantation technique in primary otosclerosis performed together with a stapedotomy ..
  20. Ealy M, Smith R. Otosclerosis. Adv Otorhinolaryngol. 2011;70:122-9 pubmed publisher
    b>Otosclerosis is one of the more common forms of adult-onset hearing loss with a prevalence of 0.3-0.4% in Caucasians...
  21. Bel Hadj Ali I, Thys M, Beltaief N, Schrauwen I, Hilgert N, Vanderstraeten K, et al. A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9. Hum Genet. 2008;123:267-72 pubmed publisher
    b>Otosclerosis is a common disorder of the otic capsule resulting in hearing impairment in 0.3-0.4% of the Caucasian population. The aetiology of the disease remains unclear...
  22. Chen W, Meyer N, McKenna M, Pfister M, McBride D, Fukushima K, et al. Single-nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis. Clin Genet. 2007;71:406-14 pubmed
    b>Otosclerosis (MIM 166800) has a prevalence of 0.2-1% among white adults, making it the single most common cause of hearing impairment in this ethnic group...
  23. Emery S, Meyer A, Miller L, Lesperance M. Otosclerosis or congenital stapes ankylosis? The diagnostic role of genetic analysis. Otol Neurotol. 2009;30:1204-8 pubmed publisher
    Molecular genetic testing is useful to differentiate otosclerosis from syndromic stapes ankylosis.
  24. Jakob A, Bornitz M, Kuhlisch E, Zahnert T. New aspects in the clinical diagnosis of otosclerosis using laser Doppler vibrometry. Otol Neurotol. 2009;30:1049-57 pubmed publisher
    ..Laser Doppler vibrometry (LDV) applied to umbo motion measurement in healthy and otosclerotic ears shows statistically tested differences...
  25. Hope A, Fagan P. Latent superior canal dehiscence syndrome unmasked by stapedotomy for otosclerosis. J Laryngol Otol. 2010;124:428-30 pubmed publisher
    This report describes a novel case in which superior canal dehiscence syndrome was unmasked by successful stapes surgery for otosclerosis.
  26. Schrauwen I, Ealy M, Fransen E, Vanderstraeten K, Thys M, Meyer N, et al. Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations. Hum Genet. 2010;127:155-62 pubmed publisher
    b>Otosclerosis is a common form of hearing loss characterized by abnormal bone remodeling in the otic capsule. It is considered a complex disease caused by both genetic and environmental factors...
  27. Filipo R, Attanasio G, Barbaro M, Viccaro M, Musacchio A, Cappelli G, et al. Distortion product otoacoustic emissions in otosclerosis: intraoperative findings. Adv Otorhinolaryngol. 2007;65:133-6 pubmed
    The aim of the study was to investigate changes in middle ear dynamic characteristics caused by both otosclerosis and stapes surgery (platinotomy, prosthesis positioning, ossicular chain maneuver) and to evaluate distortion product ..
  28. Niedermeyer H, Gantumur T, Neubert W, Arnold W. Measles virus and otosclerosis. Adv Otorhinolaryngol. 2007;65:86-92 pubmed
    Measles virus (MeV) might play an important role as an environmental stimulus in the etiopathogenesis of otosclerosis. Chronic inflammation was shown in morphologic investigations of otosclerotic foci and MeV N, P, and F proteins were ..
  29. Hayashi H, Cureoglu S, Schachern P, Oktay M, Fukushima H, Sone M, et al. Association between cupular deposits and otosclerosis. Arch Otolaryngol Head Neck Surg. 2006;132:1331-4 pubmed
    To evaluate whether otosclerosis is an underlying mechanism for the production of cupular deposits and to study the association between cupular deposits and dysequilibrium in otosclerosis.
  30. Imauchi Y, Lombes M, Lainé P, Sterkers O, Ferrary E, Grayeli A. Glucocorticoids inhibit diastrophic dysplasia sulfate transporter activity in otosclerosis by interleukin-6. Laryngoscope. 2006;116:1647-50 pubmed
    b>Otosclerosis is a bone remodeling disorder localized to the otic capsule and associated with inflammation...
  31. Cureoglu S, Schachern P, Ferlito A, Rinaldo A, Tsuprun V, Paparella M. Otosclerosis: etiopathogenesis and histopathology. Am J Otolaryngol. 2006;27:334-40 pubmed
    b>Otosclerosis is a disease of the bony labyrinth manifesting clinically as a progressive conductive hearing loss, a mixed-type hearing loss, or a sensorineural hearing loss...
  32. Thys M, Schrauwen I, Vanderstraeten K, Janssens K, Dieltjens N, Van Den Bogaert K, et al. The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations. Hum Mol Genet. 2007;16:2021-30 pubmed
    b>Otosclerosis is a progressive hearing loss characterized by an abnormal bone homeostasis of the otic capsule that leads to stapes fixation. Although its etiology remains unknown, otosclerosis can be considered a complex disease...
  33. Venail F, Lavieille J, Meller R, Deveze A, Tardivet L, Magnan J. New perspectives for middle ear implants: first results in otosclerosis with mixed hearing loss. Laryngoscope. 2007;117:552-5 pubmed
    ..Implantation of such devices requires ossicular chain integrity. Patients suffering from otosclerosis with mixed HL should be eligible for this treatment after stapes surgery with air-bone gap closure...
  34. Cureoglu S, Baylan M, Paparella M. Cochlear otosclerosis. Curr Opin Otolaryngol Head Neck Surg. 2010;18:357-62 pubmed publisher
    The aim of this study is to summarize current advances in research and clinical aspects of cochlear otosclerosis.
  35. Knox G, Reitan H. Shape-memory stapes prosthesis for otosclerosis surgery. Laryngoscope. 2005;115:1340-6 pubmed
    ..The aim of this study was to determine the efficacy of a shape-memory alloy, Nitinol, as a component of an improved stapes prosthesis...
  36. Tange R, De Bruijn A, Grolman W. Experience with a new pure gold piston in stapedotomy for cases of otosclerosis. Auris Nasus Larynx. 1998;25:249-53 pubmed
    ..9%) piston in cases of otosclerosis. A retrospective analysis of the pre- and postsurgery audiological results of these patients was carried out by ..
  37. Van Den Bogaert K, Govaerts P, Schatteman I, Brown M, Caethoven G, Offeciers F, et al. A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36. Am J Hum Genet. 2001;68:495-500 pubmed
    b>Otosclerosis due to abnormal bone homeostasis of the otic capsule is a frequent cause of hearing loss in adults...
  38. Chole R, McKenna M. Pathophysiology of otosclerosis. Otol Neurotol. 2001;22:249-57 pubmed
    To review current knowledge of the pathophysiology of otosclerosis and to review hypotheses for the amelioration of this disease.
  39. Tange R, Schimanski G, van Lange J, Grolman W, Zuur L. Reparative granuloma seen in cases of gold piston implantation after stapes surgery for otosclerosis. Auris Nasus Larynx. 2002;29:7-10 pubmed
    to determine the occurrence of the unusual side effect of a reparative granuloma after the implantation of a pure gold piston in cases of otosclerosis.
  40. Crossland G, De R, Axon P. Far advanced otosclerosis and intractable benign paroxysmal positional vertigo treated with combined cochlear implantation and posterior semicircular canal occlusion. J Laryngol Otol. 2004;118:302-4 pubmed
    ..benign paroxysmal positional vertigo (BPPV) and profound hearing loss in a patient with far advanced otosclerosis. The procedure comprised of a posterior semicircular canal occlusion and cochlear implantation as one combined ..
  41. Rotteveel L, Proops D, Ramsden R, Saeed S, van Olphen A, Mylanus E. Cochlear implantation in 53 patients with otosclerosis: demographics, computed tomographic scanning, surgery, and complications. Otol Neurotol. 2004;25:943-52 pubmed
    To collect data from a large number of cochlear implant recipients with otosclerosis and to make an assessment of these patients' clinical characteristics, computed tomographic scans, surgical findings, and complications, and to quantify ..
  42. Polak M, Ulubil S, Hodges A, Balkany T. Revision cochlear implantation for facial nerve stimulation in otosclerosis. Arch Otolaryngol Head Neck Surg. 2006;132:398-404 pubmed
    To find if patients experiencing postsurgical facial nerve stimulation caused by underlying disease process (ie, otosclerosis) can improve their hearing performance with their cochlear implant by reimplantation and by an optimal ..
  43. Nakashima T, Sone M, Fujii H, Teranishi M, Yamamoto H, Otake H, et al. Blood flow to the promontory in cochlear otosclerosis. Clin Otolaryngol. 2006;31:110-5 pubmed
    To investigate Schwartze sign with measurements of blood flow to the promontory in patients with cochlear otosclerosis.
  44. Tomek M, Brown M, Mani S, Ramesh A, Srisailapathy C, Coucke P, et al. Localization of a gene for otosclerosis to chromosome 15q25-q26. Hum Mol Genet. 1998;7:285-90 pubmed
    Among white adults otosclerosis is the single most common cause of hearing impairment. Although the genetics of this disease are controversial, the majority of studies indicate autosomal dominant inheritance with reduced penetrance...
  45. Clayton A, Mikulec A, Mikulec K, Merchant S, McKenna M. Association between osteoporosis and otosclerosis in women. J Laryngol Otol. 2004;118:617-21 pubmed
    Similarities between osteoporosis and otosclerosis have been noted, including a similar association with the COL1A1 gene. Herein, the authors explore the possible clinical relationship between these two common disorders of bone...
  46. Van Den Bogaert K, De Leenheer E, Chen W, Lee Y, Nurnberg P, Pennings R, et al. A fifth locus for otosclerosis, OTSC5, maps to chromosome 3q22-24. J Med Genet. 2004;41:450-3 pubmed
  47. Naumann I, Porcellini B, Fisch U. Otosclerosis: incidence of positive findings on high-resolution computed tomography and their correlation to audiological test data. Ann Otol Rhinol Laryngol. 2005;114:709-16 pubmed
    ..Computed tomographic (CT) scanning with slices of 1 mm or more has not been sufficient to demonstrate otosclerotic foci in most cases to date...
  48. Di Leva F, d Adamo A, Strollo L, Auletta G, Caravelli A, Carella M, et al. Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families. Int J Audiol. 2003;42:475-80 pubmed
    b>Otosclerosis is the single most common cause of hearing impairment among adult caucasians. Little is known about its aetiology and its molecular aspects...
  49. Tsai V, Ostroff J, Korman M, Chen J. Bone-conduction hearing and the occlusion effect in otosclerosis and normal controls. Otol Neurotol. 2005;26:1138-42 pubmed
    ..this study was to better understand bone-conduction hearing in subjects with normal hearing and in those with otosclerosis through the occlusion effect...
  50. Menger D, Tange R. The aetiology of otosclerosis: a review of the literature. Clin Otolaryngol Allied Sci. 2003;28:112-20 pubmed
    ..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 ..
  51. Gros A, Vatovec J, Sereg Bahar M. Histologic changes on stapedial footplate in otosclerosis. Correlations between histologic activity and clinical findings. Otol Neurotol. 2003;24:43-7 pubmed
    To quantify the relationship between the stage of histologic changes of the stapedial footplate in otosclerosis and the magnitude of preoperative hearing loss, tinnitus, vestibular disorder, and postoperative improvement of hearing.
  52. Vallejo Valdezate L, Martín Gil J, Jose Yacaman M, Martin Gil F, Gil Carcedo L, Herrero Laso J. [Otosclerosis and Van der Hoeven's syndrome: a contribution]. Acta Otorrinolaringol Esp. 2001;52:85-93 pubmed
    ..This finding indicates a possible change from hydroxyapatite (or apatite) to brushite, which imply an acidification of bone...
  53. Brownstein Z, Goldfarb A, Levi H, Frydman M, Avraham K. Chromosomal mapping and phenotypic characterization of hereditary otosclerosis linked to the OTSC4 locus. Arch Otolaryngol Head Neck Surg. 2006;132:416-24 pubmed
    To perform chromosomal mapping and clinical analysis of hereditary otosclerosis linked to the fourth locus for otosclerosis (OTSC4) in an Israeli family.