Pathology of the Human Temporal Bone in a Rare Case of Combined Usher Syndrome and Cystic Fibrosis

Usher syndrome is characterized by congenital or early-onset sensorineural hearing loss and progressive retinitis pigmentosa. We present the temporal bone pathology of a 23-year-old woman with Usher syndrome and concurrent cystic fibrosis who had received long-term tobramycin therapy for recurrent pulmonary infections. Histopathologic evaluation revealed largely preserved cochlear architecture with degeneration of the organ of Corti in the basal turn, diffuse strial atrophy, and mild vestibular hair cell loss. These surprising findings indicate a largely preserved sensorineural elements within the cochlea despite the donor's combined Usher syndrome and cystic fibrosis.