Evaluation of functionality of cochlear outer hair cells in patients with retinitis pigmentosa and in their relatives.

Hearing functionality was studied in 36 patients with retinitis pigmentosa (R P) and 29 of their relatives. These patients were defined as having bilateral normal hearing on the basis of tonal-threshold audiometric and acoustic-immittance tests. The transiently evoked otoacoustic emissions (T E O A Es) were studied in these normal hearing patients. T E O A Es represent an extremely sensitive method to study the functionality of the outer hair cells of the organ of Corti. When the values of T E O A E amplitude, intensity, and frequency in R P patients and in their relatives were compared with those in control subjects, they were found to be significantly reduced. The T E O A Es were clearly pathological in 52.8% of patients with R P and in 24.1% of their relatives. During embryologic development, there is one transitory axoneme in the outer hair cells of the organ of Corti; this transitory axoneme is important for the organization of the stereocilia. Axonemes are found in mature hair cells, including photoreceptors. The alteration of cochlear outer hair cells in a high percentage of patients with R P and in some of their relatives corroborates the hypothesis that, in some instances, retinitis pigmentosa may be due to a structural anomaly of the ciliated cells.