September 1991

Autosomal Dominant Sensorineural Hearing LossPedigrees, Audiologic Findings, and Temporal Bone Findings in Two Kindreds

Author Affiliations

From the Departments of Otology and Laryngology (Drs Khetarpal and Schuknecht) and Pediatrics (Dr Holmes), Harvard Medical School, Boston, Mass; the Department of Otolaryngology, Massachusetts Eye and Ear Infirmary (Drs Khetarpal and Schuknecht), Boston; the Embryology-Teratology Unit, Massachusetts General Hospital (Dr Holmes), Boston, Mass; and the Department of Otorhinolaryngology and Communicative Disorders, State University of New York, Upstate Medical Center, Syracuse (Dr Gacek).

Arch Otolaryngol Head Neck Surg. 1991;117(9):1032-1042. doi:10.1001/archotol.1991.01870210104022

• We report the clinical and otopathologic findings in three persons from two kindreds affected with adult-onset autosomal dominant progressive sensorineural hearing loss. The primary pathologic change is a deposit of acid polymucosaccharide ground substance in the cribrose areas; in the spiral ligament, limbus, and spiral lamina of the cochlea; and in the stroma of the maculae and cristae. These deposits obstruct the channels that accommodate the dendritic nerve fibers to the auditory and vestibular sense organs. The end result is strangulation and degeneration of dendrites followed by retrograde neuronal degeneration in association with varying degrees of atrophic change in the sense organs.

(Arch Otolaryngol Head Neck Surg. 1991;117:1032-1042)