Journal article
Pathogenesis and Treatment of Usher Syndrome Type IIA
Asia-Pacific Journal of Ophthalmology, Vol.11(4), pp.369-379
2022
Abstract
Usher syndrome (USH) is the most common form of deaf-blindness, with an estimated prevalence of 4.4 to 16.6 per 100,000 people worldwide. The most common form of USH is type IIA (USH2A), which is caused by homozygous or compound heterozygous mutations in the USH2A gene and accounts for around half of all USH cases. USH2A patients show moderate to severe hearing loss from birth, with diagnosis of retinitis pigmentosa in the second decade of life and variable vestibular involvement. Although hearing aids or cochlear implants can provide some mitigation of hearing deficits, there are currently no treatments aimed at preventing or restoring vision loss in USH2A patients. In this review, we first provide an overview of the molecular biology of the USH2A gene and its protein isoforms, which include a transmembrane protein (TM usherin) and an extracellular protein (EC usherin). The role of these proteins in the inner ear and retina and their impact on the pathogenesis of USH2A is discussed. We review animal cell-derived and patient cell-derived models currently used in USH2A research and conclude with an overview of potential treatment strategies currently in preclinical development and clinical trials.
Details
- Title
- Pathogenesis and Treatment of Usher Syndrome Type IIA
- Authors/Creators
- K. Zaw (Author/Creator)L.S. Carvalho (Author/Creator)M.T. Aung-Htut (Author/Creator)S. Fletcher (Author/Creator)S.D. Wilton (Author/Creator)F.K. Chen (Author/Creator)S. McLenachan (Author/Creator)
- Publication Details
- Asia-Pacific Journal of Ophthalmology, Vol.11(4), pp.369-379
- Publisher
- Wolters Kluwer
- Identifiers
- 991005542330507891
- Copyright
- © 2022 Asia-Pacific Academy of Ophthalmology.
- Murdoch Affiliation
- Centre for Molecular Medicine and Innovative Therapeutics
- Language
- English
- Resource Type
- Journal article
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- Citation topics
- 1 Clinical & Life Sciences
- 1.36 Ophthalmology
- 1.36.212 Genetic Retinopathies
- Web Of Science research areas
- Ophthalmology
- ESI research areas
- Clinical Medicine