{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T12:44:46Z","timestamp":1792241086417,"version":"4.4.0"},"reference-count":123,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T00:00:00Z","timestamp":1792195200000},"content-version":"vor","delay-in-days":289,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100010447","name":"Deutsches Zentrum f\u00fcr Herz-Kreislaufforschung","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010447","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["EXC 2067\/1-390729940"],"award-info":[{"award-number":["EXC 2067\/1-390729940"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Pathogenic variants in\n                    <jats:italic>RP2<\/jats:italic>\n                    cause X\u2010linked\n                    <jats:italic>RP2<\/jats:italic>\n                    \u2010associated retinopathy, a rare inherited retinal disorder typically characterized by childhood onset and progression to severe visual impairment within the first three decades of life. Despite its clinical severity, comprehensive clinical and genetic data on\n                    <jats:italic>RP2<\/jats:italic>\n                    \u2010associated retinopathy remain limited and no therapeutic approaches have yet progressed toward clinical application. Here, we provide an overview of current molecular, clinical, and therapeutic knowledge on\n                    <jats:italic>RP2<\/jats:italic>\n                    \u2010associated retinopathy together with an analysis of the spectrum and distribution of clinically classified, ClinVar\u2010curated variants. Analysis of 325 ACMG\/AMP Class 3\u20135 variants revealed that among pathogenic and likely pathogenic variants, frameshift and nonsense variants predominated, supporting loss of RP2 function as the major disease mechanism as previously described. In contrast, variants of uncertain significance were largely missense variants, underscoring the particular challenge of missense variant interpretation in RP2. Exon distribution of\n                    <jats:italic>RP2<\/jats:italic>\n                    variants did not deviate from expectation for Class 3 variants, or for Class 4 and 5 variants in exons 2\u20134. However, we observed a significant enrichment of Class 4\/5 variants in exon 1, driven mainly by initiator codon variants, and a depletion of Class 4\/5 variants in exon 5. By integrating published knowledge on molecular mechanisms, genetic variants, clinical progression, and therapeutic development, with a detailed analysis of ClinVar\u2010annotated\n                    <jats:italic>RP2<\/jats:italic>\n                    variants, this narrative review outlines the current understanding of\n                    <jats:italic>RP2<\/jats:italic>\n                    \u2010associated retinopathy and identifies key gaps that will need to be addressed for therapeutic development and clinical translation.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Trial Registration<\/jats:bold>\n                    : ClinicalTrials.gov: NCT06982417\n                  <\/jats:p>","DOI":"10.1155\/humu\/1839164","type":"journal-article","created":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T11:47:18Z","timestamp":1792237638000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Insights Into\n                    <i>RP2<\/i>\n                    \u2010Associated Retinopathy: From Molecular Basis to Clinical Translation"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4300-8224","authenticated-orcid":false,"given":"Nina","family":"B\u00f6gershausen","sequence":"first","affiliation":[{"name":"Institute of Human Genetics University Medical Center G\u00f6ttingen  G\u00f6ttingen Germany  umg.eu"},{"name":"Collaborative Research Center CRC 1690 \u201cDisease Mechanisms and Functional Restoration of Sensory and Motor Systems\u201d University of G\u00f6ttingen  G\u00f6ttingen Germany  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