Ontology highlight
ABSTRACT:
SUBMITTER: Toms M
PROVIDER: S-EPMC7502997 | biostudies-literature | 2020 Jan-Dec
REPOSITORIES: biostudies-literature
Toms Maria M Pagarkar Waheeda W Moosajee Mariya M
Therapeutic advances in ophthalmology 20200101
Usher syndrome has three subtypes, each being clinically and genetically heterogeneous characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without vestibular dysfunction. It is the most common cause of deaf-blindness worldwide with a prevalence of between 4 and 17 in 100 000. To date, 10 causative genes have been identified for Usher syndrome, with <i>MYO7A</i> accounting for >50% of type 1 and <i>USH2A</i> contributing to approximately 80% of type 2 Usher syndrome ...[more]