Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

Abstract excerpt

sher syndrome (USH) is an autosomal recessive disorder comprising of bilateral sensorineural hearing loss, progressive loss of vision due to retinitis pigmentosa (RP), and variable vestibular dysfunction. It is the most frequent cause of deafness and concurrent blindness in schools for the deaf-blind, 1 with a prevalence of 1/16 000 to 1/ 50 000 in various populations. The majority of Usher syndrome cases can be...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Ear Surgery and Otitis Media
• Share to Hearing, Cochlea, Tinnitus, Genetics
• Share to Vestibular and auditory disorders