Toms, M;
Pagarkar, W;
Moosajee, M;
(2020)
Usher syndrome: clinical features, molecular genetics and advancing therapeutics.
Therapeutic Advances in Ophthalmology
, 12
pp. 1-19.
10.1177/2515841420952194.
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Abstract
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 MYO7A accounting for >50% of type 1 and USH2A contributing to approximately 80% of type 2 Usher syndrome. Variants in these genes can also cause non-syndromic RP and deafness. Genotype–phenotype correlations have been described for several of the Usher genes. Hearing loss is managed with hearing aids and cochlear implants, which has made a significant improvement in quality of life for patients. While there is currently no available approved treatment for the RP, various therapeutic strategies are in development or in clinical trials for Usher syndrome, including gene replacement, gene editing, antisense oligonucleotides and small molecule drugs.
| Type: | Article |
|---|---|
| Title: | Usher syndrome: clinical features, molecular genetics and advancing therapeutics |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1177/2515841420952194 |
| Publisher version: | https://doi.org/10.1177%2F2515841420952194 |
| Language: | English |
| Additional information: | © 2020 by SAGE Publications Ltd. This article is distributed under the terms of the Creative Commons Attribution 4.0 License (https://creativecommons.org/licenses/by/4.0/). |
| Keywords: | gene therapy, inherited retinal disease, inner ear, photoreceptor, retina, retinitis pigmentosa, sensorineural hearing loss, sensory hair cell, Usher syndrome |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10111417 |
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