{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T11:41:30Z","timestamp":1785325290478,"version":"3.55.0"},"reference-count":39,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2025,2,13]],"date-time":"2025-02-13T00:00:00Z","timestamp":1739404800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Australian Government Research Training Program Scholarship","award":["GNT#1195713"],"award-info":[{"award-number":["GNT#1195713"]}]},{"name":"Harold Mitchell Foundation Travel Grant","award":["GNT#1195713"],"award-info":[{"award-number":["GNT#1195713"]}]},{"name":"University of Melbourne Driving Research Momentum Fellowship","award":["GNT#1195713"],"award-info":[{"award-number":["GNT#1195713"]}]},{"name":"NHMRC Investigator","award":["GNT#1195713"],"award-info":[{"award-number":["GNT#1195713"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Objectives: We sought to investigate the visual function, retinal features, and genotype\u2013phenotype correlations of an Australian cohort of RPGR carriers. Methods: In this cross-sectional study, we evaluated RPGR carriers seen in Melbourne and Perth between 2013 and 2023 and healthy women seen between 2022 and 2023 in Melbourne. Visual acuity tests, fundus-tracked microperimetry, and retinal imaging were performed. RPGR carriers were classified into four retinal phenotypes (normal, radial, focal pigmentary retinopathy, and male pattern phenotype) and compared against healthy controls. Genotype\u2013phenotype relationships in the RPGR carriers were investigated. Results: Thirty-five female RPGR carriers and thirty healthy controls were included in this study. The median ages were 40 and 48.5 years for RPGR carriers and controls, respectively (p = 0.26). Most RPGR carriers (89%) had a genetic diagnosis. Best-corrected visual acuity (BCVA), low luminance visual acuity, retinal sensitivity, central inner retinal thickness (IRT, 1\u00b0), and photoreceptor complex (PRC) thickness across the central 1\u20137\u00b0 of the retina differed between phenotypes of RPGR carriers. On average, RPGR carriers with ORF15 variants (n = 25 carriers) had reduced LLVA, a greater IRT at 1\u00b0, and thinner PRC thickness at 7\u00b0 from the fovea (all p &lt; 0.05) compared to those with exon 1\u201314 variants. Conclusions: Female RPGR carriers with severe retinal phenotypes had significantly decreased visual function and changes in retinal structure in comparison to both the controls and carriers with mild retinal disease. BCVA, LLVA, retinal sensitivity, and retinal thickness are biomarkers for detecting retinal disease in RPGR carriers. The genetic variant alone did not influence retinal phenotype; however, RPGR carriers with ORF15 variants exhibited reduced retinal and visual measurements compared to those with exon 1\u201314 variants.<\/jats:p>","DOI":"10.3390\/genes16020221","type":"journal-article","created":{"date-parts":[[2025,2,13]],"date-time":"2025-02-13T10:36:58Z","timestamp":1739443018000},"page":"221","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Retinal Disease Variability in Female Carriers of RPGR Variants Associated with Retinitis Pigmentosa: Clinical and Genetic Parameters"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0618-343X","authenticated-orcid":false,"given":"Sena A.","family":"Gocuk","sequence":"first","affiliation":[{"name":"Department of Optometry and Vision Sciences, University of Melbourne, Melbourne, VIC 3001, Australia"},{"name":"Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, VIC 3001, Australia"},{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, VIC 3002, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas L.","family":"Edwards","sequence":"additional","affiliation":[{"name":"Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, VIC 3001, Australia"},{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, VIC 3002, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jasleen K.","family":"Jolly","sequence":"additional","affiliation":[{"name":"Vision and Eye Research Institute, Anglia Ruskin University, Cambridge CB1 1PT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fred K.","family":"Chen","sequence":"additional","affiliation":[{"name":"Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, VIC 3001, Australia"},{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, VIC 3002, Australia"},{"name":"Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, WA 6009, Australia"},{"name":"Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Hospital Avenue, Nedlands, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7680-0325","authenticated-orcid":false,"given":"David C.","family":"Sousa","sequence":"additional","affiliation":[{"name":"Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, VIC 3001, Australia"},{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, VIC 3002, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5422-040X","authenticated-orcid":false,"given":"Myra B.","family":"McGuinness","sequence":"additional","affiliation":[{"name":"Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, VIC 3001, Australia"},{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, VIC 3002, Australia"},{"name":"Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC 3001, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3195-669X","authenticated-orcid":false,"given":"Terri L.","family":"McLaren","sequence":"additional","affiliation":[{"name":"Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, WA 6009, Australia"},{"name":"Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Hospital Avenue, Nedlands, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4608-4073","authenticated-orcid":false,"given":"Tina M.","family":"Lamey","sequence":"additional","affiliation":[{"name":"Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Hospital Avenue, Nedlands, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3553-6457","authenticated-orcid":false,"given":"Jennifer A.","family":"Thompson","sequence":"additional","affiliation":[{"name":"Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Hospital Avenue, Nedlands, WA 6009, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren N.","family":"Ayton","sequence":"additional","affiliation":[{"name":"Department of Optometry and Vision Sciences, University of Melbourne, Melbourne, VIC 3001, Australia"},{"name":"Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, VIC 3001, Australia"},{"name":"Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, VIC 3002, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,2,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Cehajic Kapetanovic, J., McClements, M.E., Martinez-Fernandez de la Camara, C., and MacLaren, R.E. 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