{"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":1789144909739,"version":"build-2803163510"},"reference-count":29,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2019,11,21]],"date-time":"2019-11-21T00:00:00Z","timestamp":1574294400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Slovenian research agency (ARRS) and Treatrush - European Collaborative project","award":["ARRS P3-0333, HEALTHF2-2010-242013"],"award-info":[{"award-number":["ARRS P3-0333, HEALTHF2-2010-242013"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>USH2A mutation is the most common cause of retinitis pigmentosa, with or without hearing impairment. Patients most commonly exhibit hyperautofluorescent ring on fundus autofluorescence imaging (FAF) and rod-cone dystrophy on electrophysiology. A detailed study of three USH2A patients with a rare pattern of double hyperautofluorescent rings was performed. Twenty-four patients with typical single hyperautofluorescent rings were used for comparison of the ages of onset, visual fields, optical coherence tomography, electrophysiology, and audiograms. Double rings delineated the area of pericentral retinal degeneration in all cases. Two patients exhibited rod-cone dystrophy, whereas the third had a cone-rod dystrophy type of dysfunction on electrophysiology. There was minimal progression on follow-up in all three. Patients with double rings had significantly better visual acuity, cone function, and auditory performance than the single ring group. Double rings were associated with combinations of null and missense mutations, none of the latter found in the single ring patients. According to these findings, the double hyperautofluorescent rings indicate a mild subtype of USH2A disease, characterized by pericentral retinal degeneration, mild to moderate hearing loss, and either a rod-cone or cone-rod pattern on electrophysiology, the latter expanding the known clinical spectrum of USH2A-retinopathy.<\/jats:p>","DOI":"10.3390\/genes10120956","type":"journal-article","created":{"date-parts":[[2019,11,22]],"date-time":"2019-11-22T02:49:27Z","timestamp":1574390967000},"page":"956","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6132-4808","authenticated-orcid":false,"given":"Ana","family":"Fakin","sequence":"first","affiliation":[{"name":"Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maja","family":"\u0160u\u0161tar","sequence":"additional","affiliation":[{"name":"Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jelka","family":"Brecelj","sequence":"additional","affiliation":[{"name":"Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Crystel","family":"Bonnet","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de G\u00e9n\u00e9tique et Physiologie de l\u2019Audition, Institut Pasteur, 75015 Paris, France"},{"name":"Unit\u00e9 Mixte de Recherche en Sant\u00e9 (UMRS) 1120, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), 75015 Paris, France"},{"name":"Complexit\u00e9 du Vivant, Sorbonne Universit\u00e9s, Universit\u00e9 Pierre et Marie Curie, Universit\u00e9 Paris 06, 75005 Paris, France"},{"name":"Institut de l\u2019Audition, 75012 Paris, France"},{"name":"Syndrome de Usher et Autres Atteintes R\u00e9tino-Cochl\u00e9aires, Institut de la Vision, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Petit","sequence":"additional","affiliation":[{"name":"Unit\u00e9 de G\u00e9n\u00e9tique et Physiologie de l\u2019Audition, Institut Pasteur, 75015 Paris, France"},{"name":"Unit\u00e9 Mixte de Recherche en Sant\u00e9 (UMRS) 1120, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale (INSERM), 75015 Paris, France"},{"name":"Complexit\u00e9 du Vivant, Sorbonne Universit\u00e9s, Universit\u00e9 Pierre et Marie Curie, Universit\u00e9 Paris 06, 75005 Paris, France"},{"name":"Institut de l\u2019Audition, 75012 Paris, France"},{"name":"Syndrome de Usher et Autres Atteintes R\u00e9tino-Cochl\u00e9aires, Institut de la Vision, 75012 Paris, France"},{"name":"Coll\u00e8ge de France, 75005 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3394-7690","authenticated-orcid":false,"given":"Andrej","family":"Zupan","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damjan","family":"Glava\u010d","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Jarc-Vidmar","sequence":"additional","affiliation":[{"name":"Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saba","family":"Battelino","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology and Cervicofacial Surgery, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia"},{"name":"Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marko","family":"Hawlina","sequence":"additional","affiliation":[{"name":"Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,11,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.preteyeres.2018.03.005","article-title":"Non-syndromic retinitis pigmentosa","volume":"66","author":"Verbakel","year":"2018","journal-title":"Progress Retin. 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