Familial hereditary progressive sensorineural hearing loss among Saudi population

Abstract

Clinical and audiological studies of 234 Saudi patients from the central area of Saudi Arabia with progressive sensorineural hearing loss were carried out in Riyadh. One hundred and sixty-four came from 38 families, i.e. 70% of the total and 30% were sporadic cases. Consanguinity was found in 80.8%. Their hearing loss was characterized as being bilateral sensorineural, starting at 1 kHz frequency and gradually sloping the pure tone audiogram to severe and profound hearing loss at 8 kHz. Special tests for recruitment indicate hair cell lesions. Caloric tests were normal in 56 patients tested. No abnormal internal ears were found in a C.T. scan done for 84 cases. Serology for TORCH and non-TORCH agents were done for (124) selected cases. Syphilis was negative, however, positive immunoglobulins for cytomegalovirus, herpes simplex type 1 and 2, and toxoplasmosis were seen in 52 cases. All patients came from one area called Qassim where old customs and the tradition of consanguineous marriage were still practiced. Some of these families are now under molecular and cytogenetic study.