Cochleosaccular degeneration with progressive cataracts

A genetic disorder affecting hearing and vision

Cochleosaccular degeneration with progressive cataracts is a rare genetic disorder characterized by the degeneration of the cochlea and saccule in the inner ear, leading to hearing loss, and the development of cataracts, which are opacities in the lens of the eye that progressively impair vision. This condition is inherited in an autosomal dominant pattern.

Pathophysiology

The disorder primarily affects the inner ear and the lens of the eye. The cochlea and saccule are parts of the vestibular system responsible for hearing and balance. Degeneration in these areas leads to sensorineural hearing loss, which is typically progressive. The cataract formation in this condition is also progressive, leading to gradual vision impairment.

Autosomal dominant inheritance pattern

Genetics

Cochleosaccular degeneration with progressive cataracts is inherited in an autosomal dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. This pattern of inheritance implies that an affected individual has a 50% chance of passing the condition on to each offspring.

Clinical Features

Patients with this condition typically present with:

• Progressive sensorineural hearing loss
• Development of cataracts
• Possible balance issues due to vestibular dysfunction

The onset of symptoms can vary, but hearing loss and cataracts often become apparent in early adulthood.

Diagnosis

Diagnosis is based on clinical evaluation, family history, and genetic testing. Audiometric tests can assess the degree of hearing loss, while ophthalmologic examination can confirm the presence of cataracts. Genetic testing can identify mutations associated with the disorder.

Management

Management of cochleosaccular degeneration with progressive cataracts involves:

• Hearing aids or cochlear implants to manage hearing loss
• Surgical intervention, such as cataract surgery, to restore vision
• Regular monitoring by audiologists and ophthalmologists

Prognosis

The prognosis for individuals with this condition varies. While hearing and vision loss are progressive, interventions such as hearing aids and cataract surgery can significantly improve quality of life.

Related pages

• Hearing loss
• Cataract
• Genetic disorder
• Autosomal dominant disorder