{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T23:26:02Z","timestamp":1791501962918,"version":"4.3.4"},"reference-count":28,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2025,3,20]],"date-time":"2025-03-20T00:00:00Z","timestamp":1742428800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Italian Ministry of Health, the Tuscany Region, and the Sicily Region","award":["NET-2016-02363765"],"award-info":[{"award-number":["NET-2016-02363765"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CIMB"],"abstract":"<jats:p>Background: We evaluated the genetic and phenotypic features of a cohort of 10 Italian patients affected by Retinitis Pigmentosa (RP) associated with RP1 sequence variants. Methods: A retrospective, cross-sectional genotype\u2013phenotype correlation study was conducted on a cohort of ten Italian patients (four males and six females) seen at Careggi University Hospital between 2012 and 2024, all affected by RP carrying pathogenic variants in the RP1 gene. A comprehensive ophthalmic assessment and pedigree analysis were performed, focusing on the onset of disease symptoms, the patient\u2019s age at first diagnosis, follow-up duration, and the presence of comorbidities. Results: Our cohort included ten Italian patients with a mean age of 59 (range of 32\u201379 years). The median age when symptoms first presented was 43 years (range of 2\u201374), with a mean follow-up period of 9.3 \u00b1 2.6 years. The main symptoms at presentation were hemeralopia and visual field constriction. Fundus examination revealed a classic RP phenotype. Fundus autofluorescence (FAF), optical coherence tomography (OCT), Electroretinogram (ERG), and visual field testing confirmed the typical features of classic retinitis pigmentosa in most cases. Conclusions: This single-center cohort of Italian patients provides insights into the clinical and genetic characteristics of RP1-associated RP. By comprehensively identifying genetic variations and their associated clinical manifestations, therapeutic interventions targeting specific genetic abnormalities can be better tailored. This approach holds promise for improving the prognosis and quality of life for individuals with RP1-associated RP.<\/jats:p>","DOI":"10.3390\/cimb47030212","type":"journal-article","created":{"date-parts":[[2025,3,20]],"date-time":"2025-03-20T12:23:11Z","timestamp":1742473391000},"page":"212","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Retinal Dystrophies Associated with Mutations in the RP1 Gene: Genotype\u2013Phenotype Correlations"],"prefix":"10.3390","volume":"47","author":[{"given":"Vito","family":"Spagnuolo","sequence":"first","affiliation":[{"name":"Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy"},{"name":"Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5713-0461","authenticated-orcid":false,"given":"Marco","family":"Piergentili","sequence":"additional","affiliation":[{"name":"Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy"},{"name":"Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7000-7457","authenticated-orcid":false,"given":"Ilaria","family":"Passerini","sequence":"additional","affiliation":[{"name":"Department of Genetic Diagnostics, Careggi University Hospital, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vittoria","family":"Murro","sequence":"additional","affiliation":[{"name":"Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy"},{"name":"Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1661-5312","authenticated-orcid":false,"given":"Dario Pasquale","family":"Mucciolo","sequence":"additional","affiliation":[{"name":"Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy"},{"name":"Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dario","family":"Giorgio","sequence":"additional","affiliation":[{"name":"Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy"},{"name":"Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy"},{"name":"Department of Ophthalmology, Livorno Hospital, 57124 Livorno, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Maccari","sequence":"additional","affiliation":[{"name":"Eye Clinic, Clinical Trial Center, Careggi University Hospital, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Pelo","sequence":"additional","affiliation":[{"name":"Department of Genetic Diagnostics, Careggi University Hospital, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1263-7183","authenticated-orcid":false,"given":"Ilaria","family":"Biagini","sequence":"additional","affiliation":[{"name":"Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy"},{"name":"Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4107-2807","authenticated-orcid":false,"given":"Fabrizio","family":"Giansanti","sequence":"additional","affiliation":[{"name":"Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy"},{"name":"Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9960-2989","authenticated-orcid":false,"given":"Gianni","family":"Virgili","sequence":"additional","affiliation":[{"name":"Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy"},{"name":"Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy"},{"name":"IRCCS\u2014Fondazione Bietti, 00184 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Sodi","sequence":"additional","affiliation":[{"name":"Eye Clinic, Department of Neuromuscular Diseases and Sense Organs, Careggi University Hospital, 50134 Florence, Italy"},{"name":"Department of Neuroscience, Psychology, Pharmacology and Pediatrics (Neurofarba), University of Florence, 50134 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,3,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/1750-1172-1-40","article-title":"Retinitis pigmentosa","volume":"1","author":"Hamel","year":"2006","journal-title":"Orphanet J. 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