Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches.

Autor: Marouf A; Department of Otolaryngology-Head and Neck Surgery, School of Medicine, Case Western Reserve University and University Hospitals Cleveland Medical Center, 11100 Euclid Ave., Cleveland, OH, 44106, USA., Johnson B; Department of Otolaryngology-Head and Neck Surgery, School of Medicine, Case Western Reserve University and University Hospitals Cleveland Medical Center, 11100 Euclid Ave., Cleveland, OH, 44106, USA., Alagramam KN; Department of Otolaryngology-Head and Neck Surgery, School of Medicine, Case Western Reserve University and University Hospitals Cleveland Medical Center, 11100 Euclid Ave., Cleveland, OH, 44106, USA. kna3@case.edu.; Department of Genetics and Genome Sciences, School of Medicine, Case Western Reserve University, Cleveland, OH, 44106, USA. kna3@case.edu.; Department of Neurosciences, School of Medicine, Case Western Reserve University, Cleveland, OH, 44106, USA. kna3@case.edu.
Jazyk: angličtina
Zdroj: Human genetics [Hum Genet] 2022 Apr; Vol. 141 (3-4), pp. 759-783. Date of Electronic Publication: 2022 Mar 23.
DOI: 10.1007/s00439-022-02446-9
Abstrakt: Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive pigmentary retinopathy, and vestibular dysfunction. The degree and onset of hearing loss vary among subtypes I, II, and III, while blindness often occurs in the second to fourth decades of life. Usher type III (USH3), characterized by postlingual progressive sensorineural hearing loss, varying levels of vestibular dysfunction, and varying degrees of visual impairment, typically manifests in the first to second decades of life. While USH3 is rare, it is highly prevalent in certain populations. RP61, USH3, and USH3A symbolize the same disorder, with the latter symbol used more frequently in recent literature. This review focuses on the clinical features, epidemiology, molecular genetics, treatment, and research advances for sensory deficits in USH3A.
(© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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