NDLI: Usher syndrome: clinical features, molecular genetics and advancing therapeutics

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Usher syndrome: clinical features, molecular genetics and advancing therapeutics

Content Provider	SAGE Publishing
Author	Toms, Maria Pagarkar, Waheeda Moosajee, Mariya
Copyright Year	2020
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.
Related Links	https://journals.sagepub.com/doi/pdf/10.1177/2515841420952194?download=true
ISSN	25158414
Volume Number	12
Journal	Therapeutic Advances in Ophthalmology (OED)
e-ISSN	25158414
DOI	10.1177/2515841420952194
Language	English
Publisher	Sage Publications UK
Publisher Date	2020-09-17
Publisher Place	London
Access Restriction	Open
Rights Holder	© The Author(s), 2020
Subject Keyword	Usher syndrome inner ear sensorineural hearing loss inherited retinal disease sensory hair cell gene therapy retinitis pigmentosa photoreceptor retina
Content Type	Text
Resource Type	Article
Subject	Ophthalmology

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