Hearing Loss in Osteogenesis Imperfecta: Characteristics and Treatment Considerations

Abstract

Osteogenesis imperfecta (OI) is the most common heritable disorder of connective tissue. It is associated with fractures following relatively minor injury, blue sclerae, dentinogenesis imperfecta, increased joint mobility, short stature, and hearing loss. Structures in the otic capsule and inner ear share in the histologic features common to other skeletal tissues. OI is due to mutations involving several genes, the most commonly involved are the COL1A1 or COL1A2 genes which are responsible for the synthesis of the proalpha-1 and proalpha-2 polypeptide chains that form the type I collagen triple helix. A genotype/phenotype relationship to hearing loss has not been established in OI. Hearing loss is commonly found in OI with prevalence rates ranging from 50 to 92% in some studies. Hearing loss in OI may be conductive, mixed, or sensorineural and is more common by the second or third decade. Treatment options such as hearing aids, stapes surgery, and cochlear implants are discussed.

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 Mutation

“…Clinical and radiological findings in our cohort of 17 patients strengthen the case for considering this as a separate phenotype within the OI family. Although hearing loss—a symptom reportedly experienced by approximately 50% of type I OI adults—appears to occur infrequently in OI type V, its real frequency cannot be estimated in the absence of audiological testing or without a larger number of patients . Only 1 patient in our cohort experienced minimal unilateral sensorineural hearing loss.…”

Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional Causes of Adult Osteoporosis

“…The approach to treatment of hearing loss in OI is discussed by Vernick in Pillion et al [174]. Surgical correction of conductive hearing loss from ossicular fracture and stapes footplate fixation is possible but the results of such surgery are less successful compared to similar surgery in non-OI reports.…”

Alteração auditiva em osteogênese imperfeita: revisão sistemática de literatura

“…Regarding the pathogenesis of auditory alterations, the main causes of conductive alterations described were limitations of the mobility of middle ear structures (15,(28)(29)(30) . For sensorineural changes, the involvement is not yet fully understood (7,19,31) . However, changes in optic capsule structures, which interfere with cochlear function, have been reported (4,7,8,17,(32)(33)(34)(35) .…”