{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T18:14:56Z","timestamp":1790100896581,"version":"4.0.1"},"reference-count":34,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T00:00:00Z","timestamp":1758499200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T00:00:00Z","timestamp":1758499200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>\n                      To characterise the baseline clinical features and genotypes of adults with\n                      <jats:italic>pre\u2010mRNA processing factor 31<\/jats:italic>\n                      (PRPF31)\u2010associated retinal dystrophy (RD) enrolled in a prospective, multicentre 4\u2010year natural history study, and to explore correlations between selected baseline parameters.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Thirty\u2010one patients with PRPF31\u2010RD underwent comprehensive multimodal assessment, including slit\u2010lamp ophthalmoscopy, best\u2010corrected visual acuity (BCVA), low\u2010luminance visual acuity (LLVA), mesopic and scotopic microperimetry (MP), full\u2010field stimulus threshold (FST) testing, spectral\u2010domain optical coherence tomography (SD\u2010OCT) to assess retinal structure and measure ellipsoid zone (EZ) width, and ultra\u2010widefield fundus autofluorescence (UWF\u2010FAF) to define hyperautofluorescent ring (HAR) area. Correlations between structural and functional measures were analysed using Spearman's rank correlation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Patients from 21 families carrying 17 distinct disease\u2010causing variants in the\n                      <jats:italic>PRPF31<\/jats:italic>\n                      gene were identified. The median age was 38\u2009years (range 19\u201384). Thirty patients exhibited a classic retinitis pigmentosa (RP) phenotype, and one had a pericentral pattern of dystrophy. Frequent findings included cystoid macular oedema (52%), epiretinal membrane (55%) and current or prior cataract (71%). Most patients could complete FST (84%\u201390%) and mesopic MP testing (77%), while measures of scotopic MP (57%), HAR area (52%) and EZ (68%) excluded the more advanced\u2010staged patients. The HAR area correlated strongly with the functional measures mesopic MP and FST white. The HAR area, EZ width and scotopic MP were also strongly correlated.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This study confirms phenotypic variability in PRPF31\u2010RD and expands the spectrum with pericentral RD. The feasibility of structural and functional assessments depended on disease stage, with scotopic cyan MP limited to eyes with preserved HAR and EZ.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/aos.70005","type":"journal-article","created":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T10:55:27Z","timestamp":1758538527000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Characterising\n                    <scp>PRPF31<\/scp>\n                    \u2010associated retinal dystrophy: Clinical insights from baseline data in a natural history study"],"prefix":"10.1111","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8380-6514","authenticated-orcid":false,"given":"Kathrine Olaussen","family":"Eriksen","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Oslo University Hospital  Oslo Norway"},{"name":"Institute of Clinical Medicine Oslo University  Oslo 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