{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T16:41:49Z","timestamp":1789144909321,"version":"build-2803163510"},"reference-count":63,"publisher":"eLife Sciences Publications, Ltd","license":[{"start":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T00:00:00Z","timestamp":1636416000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/publicdomain\/zero\/1.0\/"},{"start":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T00:00:00Z","timestamp":1636416000000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/publicdomain\/zero\/1.0\/"},{"start":{"date-parts":[[2021,11,9]],"date-time":"2021-11-09T00:00:00Z","timestamp":1636416000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/publicdomain\/zero\/1.0\/"}],"funder":[{"name":"USHER 1F Collborative","award":["Usher1F"],"award-info":[{"award-number":["Usher1F"]}]},{"DOI":"10.13039\/100000055","name":"National Institute on Deafness and Other Communication Disorders","doi-asserted-by":"publisher","award":["DC000039"],"award-info":[{"award-number":["DC000039"]}],"id":[{"id":"10.13039\/100000055","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elifesciences.org"],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2021,10,20]]},"abstract":"<jats:p>\n                    Usher syndrome type I (USH1) is characterized by deafness, vestibular areflexia, and progressive retinal degeneration. The protein-truncating p.Arg245* founder variant of\n                    <jats:italic>PCDH15<\/jats:italic>\n                    (USH1F) has an ~2% carrier frequency amongst Ashkenazi Jews accounts for ~60% of their USH1 cases. Here, longitudinal phenotyping in 13 USH1F individuals revealed progressive retinal degeneration, leading to severe vision loss with macular atrophy by the sixth decade. Half of the affected individuals were legally blind by their mid-50s. The mouse\n                    <jats:italic>\n                      Pcdh15\n                      <jats:sup>R250X<\/jats:sup>\n                    <\/jats:italic>\n                    variant is equivalent to human p.Arg245*. Homozygous\n                    <jats:italic>\n                      Pcdh15\n                      <jats:sup>R250X<\/jats:sup>\n                    <\/jats:italic>\n                    mice also have visual deficits and aberrant light-dependent translocation of the phototransduction cascade proteins, arrestin, and transducin. Retinal pigment epithelium (RPE)-specific retinoid cycle proteins, RPE65 and CRALBP, were also reduced in\n                    <jats:italic>\n                      Pcdh15\n                      <jats:sup>R250X<\/jats:sup>\n                    <\/jats:italic>\n                    mice, indicating a dual role for protocadherin-15 in photoreceptors and RPE. Exogenous 9-\n                    <jats:italic>cis<\/jats:italic>\n                    retinal improved ERG amplitudes in\n                    <jats:italic>\n                      Pcdh15\n                      <jats:sup>R250X<\/jats:sup>\n                    <\/jats:italic>\n                    mice, suggesting a basis for a clinical trial of FDA-approved retinoids to preserve vision in USH1F patients.\n                  <\/jats:p>","DOI":"10.7554\/elife.67361","type":"journal-article","created":{"date-parts":[[2021,10,21]],"date-time":"2021-10-21T08:00:22Z","timestamp":1634803222000},"update-policy":"https:\/\/doi.org\/10.7554\/elife.67361","source":"Crossref","is-referenced-by-count":21,"title":["Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome"],"prefix":"10.7554","volume":"10","author":[{"given":"Saumil","family":"Sethna","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology - Head & Neck Surgery, University of Maryland School of Medicine","place":["Baltimore, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wadih M","family":"Zein","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health","place":["Bethesda, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sehar","family":"Riaz","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology - Head & Neck Surgery, University of Maryland School of Medicine","place":["Baltimore, United States"]},{"name":"National Center of Excellence in Molecular Biology, University of the Punjab","place":["Lahore, Pakistan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnaud PJ","family":"Giese","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology - Head & Neck Surgery, University of Maryland School of Medicine","place":["Baltimore, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie M","family":"Schultz","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics, National Institute of Deafness and Other Communication Disorders, National Institutes of Health","place":["Bethesda, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Todd","family":"Duncan","sequence":"additional","affiliation":[{"name":"Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health","place":["Bethesda, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert B","family":"Hufnagel","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health","place":["Bethesda, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen C","family":"Brewer","sequence":"additional","affiliation":[{"name":"Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders","place":["Bethesda, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J","family":"Griffith","sequence":"additional","affiliation":[{"name":"Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders","place":["Bethesda, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T Michael","family":"Redmond","sequence":"additional","affiliation":[{"name":"Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health","place":["Bethesda, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saima","family":"Riazuddin","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology - Head & Neck Surgery, University of Maryland School of Medicine","place":["Baltimore, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4614-6630","authenticated-orcid":true,"given":"Thomas B","family":"Friedman","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Genetics, National Institute of Deafness and Other Communication Disorders, National Institutes of Health","place":["Bethesda, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2914-4502","authenticated-orcid":true,"given":"Zubair M","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology - Head & Neck Surgery, University of Maryland School of Medicine","place":["Baltimore, United States"]},{"name":"Departments of Ophthalmology and Visual Sciences, University of Maryland School of Medicine","place":["Baltimore, United States"]},{"name":"Departments of Molecular Biology and Biochemistry, University of Maryland School of Medicine","place":["Baltimore, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4374","published-online":{"date-parts":[[2021,11,9]]},"reference":[{"key":"bib1","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1086\/321277","article-title":"Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F","volume":"69","author":"Ahmed","year":"2001","journal-title":"American Journal of Human Genetics"},{"key":"bib2","doi-asserted-by":"publisher","first-page":"3215","DOI":"10.1093\/hmg\/ddg358","article-title":"PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23","volume":"12","author":"Ahmed","year":"2003","journal-title":"Human Molecular Genetics"},{"key":"bib3","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1034\/j.1399-0004.2003.00109.x","article-title":"The molecular genetics of Usher 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