Cochleosaccular degeneration of the inner ear and progressive cataracts inherited as an autosomal dominant trait

A new syndrome of cataracts and progressive sensorineural hearing loss, inherited as an autosomal dominant trait, is described. The histopathology of the inner ears in the proband demonstrated severe degeneration limited to the cochlea and saccule. This case represents the second reported example of genetically determined cochleosaccular degeneration in man. The cochleosaccular pattern of histopathology is found in both man and animals and may be the end result of prenatal dysplasia or postnatal degeneration. It also appears that cochleosaccular dysplasia and degeneration may be the result of genetically determined or acquired defects. Previously reported examples of cochleosaccular dysplasia and degeneration are reviewed including human cases in which the histopathology is similar to, but not characteristic of, the cochleosaccular pattern.