Corneal dystrophy-perceptive deafness syndrome

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Corneal dystrophy-perceptive deafness syndrome

Corneal dystrophy-perceptive deafness syndrome is a rare genetic disorder characterized by the presence of corneal dystrophy and sensorineural hearing loss. This syndrome affects the cornea of the eye and the inner ear, leading to visual and auditory impairments.

Signs and Symptoms[edit | edit source]

Individuals with corneal dystrophy-perceptive deafness syndrome typically present with:

Genetics[edit | edit source]

The syndrome is believed to be inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, to be affected. The specific gene or genes involved in this syndrome have not been definitively identified.

Diagnosis[edit | edit source]

Diagnosis of corneal dystrophy-perceptive deafness syndrome typically involves:

Treatment[edit | edit source]

There is currently no cure for corneal dystrophy-perceptive deafness syndrome. Treatment is generally symptomatic and supportive, including:

Prognosis[edit | edit source]

The prognosis for individuals with corneal dystrophy-perceptive deafness syndrome varies depending on the severity of the symptoms. Early intervention and supportive treatments can help manage the symptoms and improve the quality of life.

See Also[edit | edit source]

References[edit | edit source]

External Links[edit | edit source]

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Contributors: Prab R. Tumpati, MD