{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T17:07:54Z","timestamp":1793898474205,"version":"4.8.0"},"reference-count":36,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2021,9,26]],"date-time":"2021-09-26T00:00:00Z","timestamp":1632614400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004329","name":"Javna Agencija za Raziskovalno Dejavnost RS","doi-asserted-by":"publisher","award":["J3-1750"],"award-info":[{"award-number":["J3-1750"]}],"id":[{"id":"10.13039\/501100004329","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Seventh Framework Programme","award":["HEALTH-F2-2010-242013"],"award-info":[{"award-number":["HEALTH-F2-2010-242013"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>In contrast to USH2A, variants in ADGRV1 are a minor cause of Usher syndrome type 2, and the associated phenotype is less known. The purpose of the study was to characterize the retinal phenotype of 18 ADGRV1 patients (9 male, 9 female; median age 52 years) and compare it with that of 204 USH2A patients (111 male, 93 female; median age 43 years) in terms of nyctalopia onset, best corrected visual acuity (BCVA), fundus autofluorescence (FAF), and optical coherence tomography (OCT) features. There was no statistical difference in the median age at onset (30 and 18 years; Mann\u2013Whitney U test, p = 0.13); the mean age when 50% of the patients reached legal blindness (\u22651.0 log MAR) based on visual acuity (64 years for both groups; log-rank, p = 0.3); the risk of developing advanced retinal degeneration (patch or atrophy) with age (multiple logistic regression, p = 0.8); or the frequency of cystoid macular edema (31% vs. 26%, Fisher\u2019s exact test, p = 0.4). ADGRV1 and USH2A retinopathy were indistinguishable in all major functional and structural characteristics, suggesting that the loss of function of the corresponding proteins produces similar effects in the retina. The results are important for counseling ADGRV1 patients, who represent the minor patient subgroup.<\/jats:p>","DOI":"10.3390\/ijms221910352","type":"journal-article","created":{"date-parts":[[2021,9,27]],"date-time":"2021-09-27T04:55:33Z","timestamp":1632718533000},"page":"10352","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush"],"prefix":"10.3390","volume":"22","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":"Crystel","family":"Bonnet","sequence":"additional","affiliation":[{"name":"Institut de l\u2019audition, Institut Pasteur, Universit\u00e9 de Paris, INSERM, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Kurtenbach","sequence":"additional","affiliation":[{"name":"Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saddek","family":"Mohand-Said","sequence":"additional","affiliation":[{"name":"Institut de la Vision, Sorbonne Universit\u00e9, INSERM, CNRS, 75012 Paris, France"},{"name":"Centre Hospitalier National d\u2019Ophtalmologie des Quinze-Vingts, Reference Center for Rare Disease REFERET, 75571 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ditta","family":"Zobor","sequence":"additional","affiliation":[{"name":"Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8132-911X","authenticated-orcid":false,"given":"Katarina","family":"Stingl","sequence":"additional","affiliation":[{"name":"Center for Ophthalmology, University Eye Hospital, University of Tuebingen, 72076 Tuebingen, Germany"},{"name":"Center for Rare Eye Diseases, University of Tuebingen, 72076 Tuebingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Testa","sequence":"additional","affiliation":[{"name":"Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Simonelli","sequence":"additional","affiliation":[{"name":"Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9-Alain","family":"Sahel","sequence":"additional","affiliation":[{"name":"Institut de la Vision, Sorbonne Universit\u00e9, INSERM, CNRS, 75012 Paris, France"},{"name":"Centre Hospitalier National d\u2019Ophtalmologie des Quinze-Vingts, Reference Center for Rare Disease REFERET, 75571 Paris, France"},{"name":"Department of Ophthalmology, Fondation Ophtalmologique Adolphe De Rothschild, 75019 Paris, France"},{"name":"Department of Ophthalmology, The University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0698-5309","authenticated-orcid":false,"given":"Isabelle","family":"Audo","sequence":"additional","affiliation":[{"name":"Institut de la Vision, Sorbonne Universit\u00e9, INSERM, CNRS, 75012 Paris, France"},{"name":"Centre Hospitalier National d\u2019Ophtalmologie des Quinze-Vingts, Reference Center for Rare Disease REFERET, 75571 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eberhart","family":"Zrenner","sequence":"additional","affiliation":[{"name":"Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany"}],"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"}]},{"given":"Christine","family":"Petit","sequence":"additional","affiliation":[{"name":"Institut de l\u2019audition, Institut Pasteur, Universit\u00e9 de Paris, INSERM, 75012 Paris, France"},{"name":"Coll\u00e8ge de France, 75231 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,9,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1080\/14992020600975279","article-title":"The changing face of Usher syndrome: Clinical implications","volume":"46","author":"Cohen","year":"2007","journal-title":"Int. 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