Does Osteogenesis Imperfecta Cause Hearing Loss?

Yes, hearing loss is a common complication for adults living with osteogenesis imperfecta (OI) ^[1]. Because OI affects the body’s ability to produce healthy collagen—a major building block of bones and tissues—the delicate structures inside the ear are especially vulnerable ^[1]. While hearing loss is most common overall in people with Type I OI, individuals with Types III and IV who develop hearing loss may experience it even earlier in life, sometimes within the first decade ^[2].

While the general population typically begins losing their hearing in their late 50s, those with OI often notice changes much earlier ^[1]. Hearing loss in OI can begin in early adulthood, typically in the 20s, 30s, or 40s ^[1]. In fact, research shows that nearly half of all adults with OI will experience some degree of hearing loss by the time they reach age 75 ^[1]. You may first notice symptoms like struggling to hear in noisy environments or experiencing tinnitus (a ringing or buzzing in the ears) ^[1].

How OI Affects Hearing

Hearing loss in OI usually affects both ears (bilateral) and tends to slowly progress over time ^[1]. To understand how OI causes hearing loss, it helps to look at the different types of hearing loss it can trigger:

Conductive Hearing Loss

This is the most common starting point for younger adults with OI ^[1]. Conductive hearing loss occurs when sound waves cannot efficiently travel through the middle ear to the inner ear. Inside the middle ear are three tiny bones (ossicles) that must vibrate to pass sound along. Because of the faulty collagen in OI, these tiny bones—especially one called the stapes—can become thickened, develop microfractures, or become stiffly fixed in place ^[1]. When the bones cannot move freely, sound is blocked.

Sensorineural Hearing Loss

As people with OI age, hearing loss often transitions to involve nerve-related issues, known as sensorineural hearing loss ^[1]. This occurs when there are problems in the inner ear, specifically the cochlea. Defective type I collagen can alter the bone structure surrounding the cochlea, which in turn damages the sensitive hair cells responsible for sending sound signals to the brain ^[1]. Females with OI may have a slightly higher rate of this specific type of hearing loss compared to males ^[2].

Mixed Hearing Loss

Many older adults with OI develop mixed hearing loss, which is a combination of both conductive and sensorineural issues ^[1]. This means there is stiffness in the middle ear bones as well as damage to the inner ear ^[1].

Managing Hearing Loss in OI

If you have OI, being proactive about your ear health is essential for maintaining your quality of life. Even if you do not currently have symptoms, screening and early intervention make a significant difference.

• Routine Audiometry Screening: You should have a baseline hearing test (audiometry) in childhood, followed by regular routine screenings throughout adulthood ^[1]. Many specialists recommend testing every 1 to 3 years, but ask your doctor for a personalized schedule based on your specific OI type and symptoms.
• Protect Your Hearing: Because your hearing structures are already vulnerable, it is especially important to protect your ears from non-OI related damage, such as wearing earplugs around loud noises to preserve your remaining sensory hair cells.
• Hearing Aids: When hearing loss is detected, hearing aids are a standard, highly effective, and non-invasive option ^[1]. Because hearing loss starts earlier in OI, adults with the condition often benefit from hearing aids at a younger age than the general population ^[1].
• Surgical Options (Stapedectomy): For those with purely conductive hearing loss caused by a stiffened middle ear bone, a surgical procedure called a stapedectomy or stapedotomy may be an option ^[1]. During this procedure, the stiff bone is partially or fully replaced with a tiny artificial device to restore movement. Because OI causes bones to be especially fragile, this surgery carries specific risks and should be performed by an otolaryngologist (ENT surgeon) experienced with OI ^[1]. Since finding an experienced surgeon can be difficult, organizations like the Osteogenesis Imperfecta Foundation (OIF) often provide directories and resources to help locate specialists.
• Cochlear Implants: If hearing loss progresses to severe or profound sensorineural hearing loss where traditional hearing aids are no longer effective, cochlear implants may be recommended to bypass the damaged parts of the ear and directly stimulate the hearing nerve.