Cited by 188Retinal Development and DisordersGenetic and Kidney Cyst DiseasesConnexins and lens biology

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Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy

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Williams, David S.·2008·Vision Research

DOI 10.1016/j.visres.2007.08.015PMC PMC2680226

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Abstract

Usher syndrome is a deafness-blindness disorder. The blindness occurs from a progressive retinal degeneration that begins after deafness and after the retina has developed. Three clinical subtypes of Usher syndrome have been identified, with mutations in any one of six different genes giving rise to type 1, in any one of three different genes to type 2, and in one identified gene causing Usher type 3. Mutant mice for most of the genes have been studied; while they have clear inner ear defects, retinal phenotypes are relatively mild and have been difficult to characterize. The retinal functions of the Usher proteins are still largely unknown. Protein binding studies have suggested many interactions among the proteins, and a model of interaction among all the proteins in the photoreceptor synapse has been proposed. However this model is not supported by localization data from some laboratories, or the indication of any synaptic phenotype in mutant mice. An earlier suggestion, based on patient pathologies, of Usher protein function in the photoreceptor cilium continues to gain support from immunolocalization and mutant mouse studies, which are consistent with Usher protein interaction in the photoreceptor ciliary/periciliary region. So far, the most characterized Usher protein is myosin VIIa. It is present in the apical RPE and photoreceptor ciliary/periciliary region, where it is required for organelle transport and clearance of opsin from the connecting cilium, respectively. Usher syndrome is amenable to gene replacement therapy, but also has some specific challenges. Progress in this treatment approach has been achieved by correction of mutant phenotypes in Myo7a-null mouse retinas, following lentiviral delivery of MYO7A.

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A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure
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Authors: Williams, D. S.
Affiliations: University of California San Diego (US)
Corresponding author: Williams, David S.
ORCID: Williams, David S.
Venue: Vision Research
Publisher: Elsevier BV
Published: 2008-02
Volume: 48
Issue: 3
Pages: 433-441
ISSN: 0042-6989 (ISSN-L)
DOI: 10.1016/j.visres.2007.08.015
PMC: PMC2680226
OpenAlex: W2117841202
Cited by: 188
References: 105
Citations by year: 2026: 6 · 2025: 8 · 2024: 6 · 2023: 10 · 2022: 8 · 2021: 8 · 2020: 5 · 2019: 7 · 2018: 6 · 2017: 6 · 2016: 6 · 2015: 7 · 2014: 11 · 2013: 11 · 2012: 19
FWCI: 1.16
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 2029 d)
Locations: Vision Research (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
Funders: National Institutes of Health
National Eye Institute (R01EY007042, EY07042)
Topics: Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Connexins and lens biology
Keywords: Usher syndrome, retinal degeneration, MYO7A, photoreceptor synapses, connecting cilium, organelle transport, retinal pigment epithelium, lentiviral gene therapy, mutant mouse models, protein-protein interaction
MeSH terms: Myosin VIIa, Animals, Disease Models, Animal, Dyneins, Eye Proteins, Humans, Mutation, Myosins, Retina, Genetic Therapy, Mice, Usher Syndromes

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Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy

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